Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
5.4
3.9
Journals
JCM
Special Issues
Current Challenges in the Diagnosis and Treatment of Hereditary and...
share announcement

Current Challenges in the Diagnosis and Treatment of Hereditary and Congenital Aortopathies

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Cardiology".

Deadline for manuscript submissions: closed (31 January 2020) | Viewed by 63201

Special Issue Editors

Prof. Dr. Evaldas Girdauskas

E-Mail Website
Guest Editor
Department of Cardiovascular Surgery, University Heart & Vascular Center Hamburg, 20251 Hamburg, Germany
Interests: aortic valve repair; endovascular surgery; aortic valve surgery; aortic surgery; bicuspid aortic valve; mitral valve repair; minimal- invasive valve surgery; minimally invasive cardiac surgery
Prof. Dr. Yskert von Kodolitsch

E-Mail Website
Guest Editor
Department of Cardiology, University Heart Center Hamburg, Hamburg, Germany
Interests: Marfan syndrome; acute aortic syndromes; cardiogenetics
Prof. Dr. Harald Kaemmerer

E-Mail Website
Guest Editor
Department of Congenital Heart Disease and Pediatric Cardiology German Heart Center Munich, Technical University Munich, Munich, Germany
Interests: clinical cardiology; cardiology; chronic heart failure; cardiomyopathies; heart; heart valve diseases; pulmonary hypertension; congenital heart disease; aortic aneurysm; adult congenital heart disease

Special Issue Information

Dear Colleagues,

Congenital heart defects (CHDs)—which represent the most common isolated organ anomaly, with a prevalence of about 8.0 per 1000 live births—cause a steadily growing global health problem, as more than 90% of the affected patients now reach adulthood, as a result of modern treatment options. Unfortunately, most of them are not cured, and develop a wide range of residua and sub-sequels.  CHD-associated aortic disease (so called aortopathy) is a very heterogeneous entity, and is prevalent in monogenetic aortic syndromes, congenital aortic valve disorders (i.e., unicuspid and bicuspid aortic valve), aortic coarctation, and cono-truncal anomalies (e.g., tetralogy of Fallot, transposition of great arteries), as well as in complex CHDs, such as hypoplastic left heart syndrome, and it is also seen after reparative cardiac surgery (e.g., after a Fontan operation). The pathogenesis of CHD-associated aortopathies is still incompletely understoodm and thus the best prevention and management strategy is currently unknown. From a clinical point of view, some specific aortopathies may be associated with an increased complication risk, especially an acute aortic syndrome. However, individualized risk stratification of adverse aortic events is only rudimentary, and therefore, CHD-associated aortopathies are currently under-diagnosed and not infrequently under- or over-treated. There is an urgent need for longitudinal data analyses of patients with CHD, particularly for those at risk of developing aortic complications. Furthermore, more integrative and translational research activities are indispensable for unravelling the mechanisms underlying the distinct forms of CHD-associated aortopathies, and to develop management strategies.

This Special Issue aims to address the knowledge gaps in the CHD-associated aortopathies, including review articles on the current state of the art in the diagnosis and treatment, as well as focused original contributions dealing with the distinct forms of hereditary and congenital aortopathies.

Prof. Dr. Evaldas Girdauskas
Prof. Dr. Yskert von Kodolitsch
Prof. Dr. Harald Kaemmerer
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Clinical Medicine is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • aortopathy
  • congenital heart disease
  • connective tissue disorders
  • bicuspid aortic valve
  • aortic coarctation
  • fontan-operation
  • aortic surgery

Published Papers (20 papers)

Download All Papers
Order results
Result details
Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:

Editorial

Jump to: Research, Review

6 pages, 202 KiB  
Editorial
Unravelling the Pathogenetic Mechanisms in Congenital Aortopathies: Need for an Integrative Translational Approach
by Evaldas Girdauskas, Harald Kaemmerer and Yskert von Kodolitsch
J. Clin. Med. 2020, 9(1), 204; https://doi.org/10.3390/jcm9010204 - 11 Jan 2020
Cited by 3 | Viewed by 1846
Abstract
Congenital heart disease (CHD)-associated aortopathy is a very heterogeneous entity with a wide spectrum of clinical presentations. The pathogenesis of aortopathy is still incompletely understood, and, therefore, the best prevention and management strategy is currently unknown. The most common entity of CHD-associated aortopathies [...] Read more.
Congenital heart disease (CHD)-associated aortopathy is a very heterogeneous entity with a wide spectrum of clinical presentations. The pathogenesis of aortopathy is still incompletely understood, and, therefore, the best prevention and management strategy is currently unknown. The most common entity of CHD-associated aortopathies is bicuspid aortic valve (BAV)-associated aortic disease (so called bicuspid aortopathy) that is found in 50%–60% of BAV individuals. BAV aortopathy has been reported in association with an increased risk of aortic events, especially aortic dissection and sudden cardiac death. Risk stratification of adverse aortic events is still very rudimentary and considers only the maximal aortic diameter, which makes it unsuitable for an individual risk prediction. This introductory Editorial highlights the unmet clinical need for more integrative and translational research to unravel pathogenetic pathways in the development of CHD-associated aortopathies, integrating recently identified genetic lesions and knowledge on circulating biomarkers and microstructural changes in the diseased aorta. Full article
(This article belongs to the Special Issue Current Challenges in the Diagnosis and Treatment of Hereditary and Congenital Aortopathies)

Research

Jump to: Editorial, Review

13 pages, 419 KiB  
Article
Severe Acute Kidney Injury in Cardiovascular Surgery: Thrombotic Microangiopathy as a Differential Diagnosis to Ischemia Reperfusion Injury. A Retrospective Study
by Melissa Grigorescu, Christine-Elena Kamla, Dietmar Wassilowsky, Dominik Joskowiak, Sven Peterss, Stephan Kemmner, Maximilian Pichlmaier, Christian Hagl, Michael Fischereder and Ulf Schönermarck
J. Clin. Med. 2020, 9(9), 2900; https://doi.org/10.3390/jcm9092900 - 08 Sep 2020
Cited by 3 | Viewed by 2292
Abstract
Background: Acute kidney injury (AKI) after cardiovascular surgery (CVS) infers high morbidity and mortality and may be caused by thrombotic microangiopathy (TMA). This study aimed to assess incidence, risk factors, kidney function, and mortality of patients with a postoperative TMA as possible cause [...] Read more.
Background: Acute kidney injury (AKI) after cardiovascular surgery (CVS) infers high morbidity and mortality and may be caused by thrombotic microangiopathy (TMA). This study aimed to assess incidence, risk factors, kidney function, and mortality of patients with a postoperative TMA as possible cause of severe AKI following cardiovascular surgery. Methods: We analyzed retrospectively all patients admitted to the ICU after a cardiovascular procedure between 01/2018 and 03/2019 with severe AKI and need for renal replacement therapy (RRT). TMA was defined as post-surgery-AKI including need for RRT, hemolytic anemia, and thrombocytopenia. TMA patients were compared to patients with AKI requiring RRT without TMA. Results: Out of 893 patients, 69 (7.7%) needed RRT within one week after surgery due to severe AKI. Among those, 15 (21.7%) fulfilled TMA criteria. Aortic surgery suggested an increased risk for TMA (9/15 (60.0%) vs. 7/54 (31.5%), OR 3.26, CI 1.0013-10.64). Ten TMA patients required plasmapheresis and/or eculizumab, and five recovered spontaneously. Preoperative kidney function was significantly better in TMA patients than in controls (eGFR 92 vs. 60.5 mL/min, p = 0.004). However, postoperative TMA resulted in a more pronounced GFR loss (ΔeGFR −54 vs. −17 mL/min, p = 0.062). There were no deaths in the TMA group. Conclusion: Our findings suggest TMA as an important differential diagnosis of severe AKI following cardiovascular surgery, which may be triggered by aortic surgery. Therefore, early diagnosis and timely treatment of TMA could reduce kidney damage and improve mortality of AKI following cardiovascular surgery, which should be further investigated. Full article
(This article belongs to the Special Issue Current Challenges in the Diagnosis and Treatment of Hereditary and Congenital Aortopathies)
►▼ Show Figures

Figure 1

13 pages, 860 KiB  
Article
Facts about the General Medical Care of Adults with Congenital Heart Defects: Experience of a Tertiary Care Center
by Lavinia Seidel, Kathrin Nebel, Stephan Achenbach, Ulrike Bauer, Peter Ewert, Sebastian Freilinger, Ulrike Gundlach, Harald Kaemmerer, Nicole Nagdyman, Renate Oberhoffer, Lars Pieper, Wibke Reinhard, Linda Sanftenberg, Jörg Schelling, Michael Weyand and Rhoia Neidenbach
J. Clin. Med. 2020, 9(6), 1943; https://doi.org/10.3390/jcm9061943 - 22 Jun 2020
Cited by 17 | Viewed by 2785
Abstract
Background: Due to the increase in survival rates for congenital heart disease (CHD) in the last decades, over 90% of patients today reach adulthood. Currently, there are more than 300,000 adults with CHD (ACHD) living in Germany. They have an increased need [...] Read more.
Background: Due to the increase in survival rates for congenital heart disease (CHD) in the last decades, over 90% of patients today reach adulthood. Currently, there are more than 300,000 adults with CHD (ACHD) living in Germany. They have an increased need for specialized medical care, since almost all ACHD have chronic heart disease and suffer from specific chronic symptoms, risks, and sequelae. Primary care physicians (PCPs) play a crucial role in referring patients to ACHD specialists or specialized institutions. This cross-sectional study is intended to clarify the real-world care of ACHD from the PCP’s perspective. Methods: This analysis, initiated by the German Heart Centre Munich, was based on a 27-item questionnaire on actual ACHD health care practice in Germany from the PCP’s perspective. Results: In total, 767 questionnaires were considered valid for inclusion. The majority of the PCPs were general practitioners (95.9%), and 84.1% had cared for ACHD during the past year. A majority (69.2%) of the PCPs had cared for patients with simple CHD, while 50.6% and 33.4% had cared for patients with moderate and severe CHD, respectively, in all age groups. PCPs treated almost all typical residual symptoms and sequelae, and advised patients regarding difficult questions, including exercise capacity, pregnancy, genetics, and insurance matters. However, 33.8% of the PCPs did not even know about the existence of certified ACHD specialists or centers. Only 23.9% involved an ACHD-specialized physician in their treatment. In cases of severe cardiac issues, 70.8% of the PCPs referred patients to ACHD-certified centers. Although 52.5% of the PCPs were not sufficiently informed about existing structures, 64.2% rated the current care situation as either “very good” or “good”. Only 26.3% (n = 190) of the responding physicians were aware of patient organizations for ACHD. Conclusions: The present study showed that the majority of PCPs are not informed about the ACHD care structures available in Germany. The need for specialized ACHD follow-up care is largely underestimated, with an urgent need for optimization to reduce morbidity and mortality. For the future, solutions must be developed to integrate PCPs more intensively into the ACHD care network. Full article
(This article belongs to the Special Issue Current Challenges in the Diagnosis and Treatment of Hereditary and Congenital Aortopathies)
►▼ Show Figures

Figure 1

21 pages, 2302 KiB  
Article
Pulmonary Hypertension in Adults with Congenital Heart Disease: Real-World Data from the International COMPERA-CHD Registry
by Harald Kaemmerer, Matthias Gorenflo, Dörte Huscher, David Pittrow, Christian Apitz, Helmut Baumgartner, Felix Berger, Leonhard Bruch, Eva Brunnemer, Werner Budts, Martin Claussen, Gerry Coghlan, Ingo Dähnert, Michele D’Alto, Marion Delcroix, Oliver Distler, Sven Dittrich, Daniel Dumitrescu, Ralf Ewert, Martin Faehling, Ingo Germund, Hossein Ardeschir Ghofrani, Christian Grohé, Karsten Grossekreymborg, Michael Halank, Georg Hansmann, Dominik Harzheim, Attila Nemes, Kalman Havasi, Matthias Held, Marius M. Hoeper, Michael Hofbeck, Wolfgang Hohenfrost-Schmidt, Elena Jurevičienė, Lina Gumbienè, Hans-Joachim Kabitz, Hans Klose, Thomas Köhler, Stavros Konstantinides, Martin Köestenberger, Rainer Kozlik-Feldmann, Hans-Heiner Kramer, Cornelia Kropf-Sanchen, Astrid Lammers, Tobias Lange, Philipp Meyn, Oliver Miera, Katrin Milger-Kneidinger, Rhoia Neidenbach, Claus Neurohr, Christian Opitz, Christian Perings, Bjoern Andrew Remppis, Gabriele Riemekasten, Laura Scelsi, Werner Scholtz, Iveta Simkova, Dirk Skowasch, Andris Skride, Gerd Stähler, Brigitte Stiller, Iraklis Tsangaris, Carmine Dario Vizza, Anton Vonk Noordegraaf, Heinrike Wilkens, Hubert Wirtz, Gerhard-Paul Diller, Ekkehard Grünig and Stephan Rosenkranzadd Show full author list remove Hide full author list
J. Clin. Med. 2020, 9(5), 1456; https://doi.org/10.3390/jcm9051456 - 13 May 2020
Cited by 26 | Viewed by 6409
Abstract
Introduction: Pulmonary hypertension (PH) is a common complication in patients with congenital heart disease (CHD), aggravating the natural, post-operative, or post-interventional course of the underlying anomaly. The various CHDs differ substantially in characteristics, functionality, and clinical outcomes among each other and compared with [...] Read more.
Introduction: Pulmonary hypertension (PH) is a common complication in patients with congenital heart disease (CHD), aggravating the natural, post-operative, or post-interventional course of the underlying anomaly. The various CHDs differ substantially in characteristics, functionality, and clinical outcomes among each other and compared with other diseases with pulmonary hypertension. Objective: To describe current management strategies and outcomes for adults with PH in relation to different types of CHD based on real-world data. Methods and results: COMPERA (Comparative, Prospective Registry of Newly Initiated Therapies for Pulmonary Hypertension) is a prospective, international PH registry comprising, at the time of data analysis, >8200 patients with various forms of PH. Here, we analyzed a subgroup of 680 patients with PH due to CHD, who were included between 2007 and 2018 in 49 specialized centers for PH and/or CHD located in 11 European countries. At enrollment, the patients’ median age was 44 years (67% female), and patients had either pre-tricuspid shunts, post-tricuspid shunts, complex CHD, congenital left heart or aortic disease, or miscellaneous other types of CHD. Upon inclusion, targeted therapies for pulmonary arterial hypertension (PAH) included endothelin receptor antagonists, PDE-5 inhibitors, prostacyclin analogues, and soluble guanylate cyclase stimulators. Eighty patients with Eisenmenger syndrome were treatment-naïve. While at inclusion the primary PAH treatment for the cohort was monotherapy (70% of patients), with 30% of the patients on combination therapy, after a median observation time of 45.3 months, the number of patients on combination therapy had increased significantly, to 50%. The use of oral anticoagulants or antiplatelets was dependent on the underlying diagnosis or comorbidities. In the entire COMPERA-CHD cohort, after follow-up and receiving targeted PAH therapy (n = 511), 91 patients died over the course of a 5-year follow up. The 5-year Kaplan–Meier survival estimate for CHD associated PH was significantly better than that for idiopathic PAH (76% vs. 54%; p < 0.001). Within the CHD associated PH group, survival estimates differed particularly depending on the underlying diagnosis and treatment status. Conclusions: In COMPERA-CHD, the overall survival of patients with CHD associated PH was dependent on the underlying diagnosis and treatment status, but was significantly better as than that for idiopathic PAH. Nevertheless, overall survival of patients with PAH due to CHD was still markedly reduced compared with survival of patients with other types of CHD, despite an increasing number of patients on PAH-targeted combination therapy. Full article
(This article belongs to the Special Issue Current Challenges in the Diagnosis and Treatment of Hereditary and Congenital Aortopathies)
►▼ Show Figures

Figure 1

12 pages, 766 KiB  
Article
Applications of a Specialty Bicuspid Aortic Valve Program: Clinical Continuity and Translational Collaboration
by Erin E. Crawford, Patrick M. McCarthy, S. Chris Malaisrie, Jyothy J. Puthumana, Joshua D. Robinson, Michael Markl, Menghan Liu, Adin-Cristian Andrei, David G. Guzzardi, Jane Kruse and Paul W. M. Fedak
J. Clin. Med. 2020, 9(5), 1354; https://doi.org/10.3390/jcm9051354 - 05 May 2020
Cited by 4 | Viewed by 3123
Abstract
Bicuspid aortic valve (BAV) is a common congenital heart diagnosis and is associated with aortopathy. Current guidelines for aortic resection have been validated but are based on aortic diameter, which is insufficient to predict acute aortic events. Clinical and translational collaboration is necessary [...] Read more.
Bicuspid aortic valve (BAV) is a common congenital heart diagnosis and is associated with aortopathy. Current guidelines for aortic resection have been validated but are based on aortic diameter, which is insufficient to predict acute aortic events. Clinical and translational collaboration is necessary to identify biomarkers that can individualize the timing of prophylactic surgery for BAV aortopathy. We describe our multidisciplinary BAV program, including research protocols aimed at biomarker discovery and results from our longitudinal clinical registry. From 2012–2018, 887 patients enrolled in our clinical BAV registry with the option to undergo four dimensional flow cardiovascular magnetic resonance imaging (4D flow CMR) and donate serum plasma or tissue samples. Of 887 patients, 388 (44%) had an elective BAV-related procedure after initial presentation, while 499 (56%) continued with medical management. Of medical patients, 44 (9%) had elective surgery after 2.3 ± 1.4 years. Surgery patients’ biobank donations include 198 (46%) aorta, 374 (86%) aortic valve, and 314 (73%) plasma samples. The 4D flow CMR was completed for 215 (50%) surgery patients and 243 (49%) medical patients. Patients with BAV aortopathy can be safely followed by a multidisciplinary team to detect indications for surgery. Paired tissue and hemodynamic analysis holds opportunity for biomarker development in BAV aortopathy. Full article
(This article belongs to the Special Issue Current Challenges in the Diagnosis and Treatment of Hereditary and Congenital Aortopathies)
►▼ Show Figures

Figure 1

9 pages, 616 KiB  
Article
Velocity Vector Imaging Assessment of Functional Change in the Right Ventricle during Transcatheter Closure of Atrial Septal Defect by Intracardiac Echocardiography
by Se Yong Jung, Jae Il Shin, Jae Young Choi, Su-Jin Park and Nam Kyun Kim
J. Clin. Med. 2020, 9(4), 1132; https://doi.org/10.3390/jcm9041132 - 15 Apr 2020
Viewed by 2267
Abstract
The functional change of the right ventricle (RV) after atrial septal defect (ASD) via transcatheter closure is well known. We assessed the immediate RV functional change using velocity vector imaging (VVI) with intracardiac echocardiography (ICE). Seventy-four patients who underwent transcatheter closure of an [...] Read more.
The functional change of the right ventricle (RV) after atrial septal defect (ASD) via transcatheter closure is well known. We assessed the immediate RV functional change using velocity vector imaging (VVI) with intracardiac echocardiography (ICE). Seventy-four patients who underwent transcatheter closure of an ASD were enrolled. VVI in the “home view” of ICE showing the RV was obtained before and after the procedure. Velocity, strain, strain rate (SR), and longitudinal displacement were analyzed from VVI data, and the changes of these parameters before and after the procedure were compared. The velocity of the RV decreased after ASD transcatheter closure (3.97 ± 1.48 to 3.56 ± 1.4, p = 0.024), especially in the RV inlet and outlet. The average strain decreased (−19.21 ± 5.79 to −16.87 ± 5.03, p = 0.002), as did the average SR (−2.28 ± 0.64 to −2.03 ± 0.61, p = 0.006). The average longitudinal displacement did not differ. With the VVI technique, we could clearly observe RV functional change immediately after transcatheter closure of the ASD. RV functional change with regional difference may reflect the heterogeneity of volume reduction and suggest subclinical RV dysfunction. These findings can enhance our understanding of the physiologic changes in the RV during reverse remodeling. Full article
(This article belongs to the Special Issue Current Challenges in the Diagnosis and Treatment of Hereditary and Congenital Aortopathies)
►▼ Show Figures

Figure 1

17 pages, 1721 KiB  
Article
Marfan Syndrome Versus Bicuspid Aortic Valve Disease: Comparative Analysis of Obstetric Outcome and Pregnancy-Associated Immediate and Long-Term Aortic Complications
by Betül Toprak, Katalin Szöcs, Elvin Zengin-Sahm, Christoph Sinning, Amra Hot, Peter Bannas, Kurt Hecher, Bernd Hüneke, Thomas S. Mir, Meike Rybczynski, Evaldas Girdauskas, Stefan Blankenberg and Yskert von Kodolitsch
J. Clin. Med. 2020, 9(4), 1124; https://doi.org/10.3390/jcm9041124 - 15 Apr 2020
Cited by 6 | Viewed by 2953
Abstract
Pregnancy poses a threat to women with aortopathy. Conclusive data on the obstetric and aortic outcome in this risk collective, especially when it comes to aortic complications in the long term, are still missing. This study offers a comparative analysis of pregnancy-associated outcome [...] Read more.
Pregnancy poses a threat to women with aortopathy. Conclusive data on the obstetric and aortic outcome in this risk collective, especially when it comes to aortic complications in the long term, are still missing. This study offers a comparative analysis of pregnancy-associated outcome in 113 consecutive women with Marfan syndrome or bicuspid aortic valve disease, including 46 ever-pregnant and 37 never-pregnant women with Marfan syndrome, and 23 ever-pregnant and 7 never-pregnant females with bicuspid aortic valve disease. The overall obstetric outcome was comparable between ever-pregnant women with Marfan syndrome and with bicuspid aortic valve disease (p = 0.112). Pregnancy-associated aortic dissection occurred in two women with Marfan syndrome (3%) during a total of 62 completed pregnancies, whereas no single case of aortic event occurred in women with bicuspid aortic valve disease during a total of 36 completed pregnancies (p = 0.530). In the long-term follow-up, aortic dissection occurred in 21% of ever-pregnant women with Marfan syndrome, but in none of the women with bicuspid aortic valve disease (p = 0.022). Proximal aortic surgery was performed with similar frequency in ever-pregnant women with Marfan syndrome and with bicuspid aortic valve disease in the long term (p = 0.252). However, ever-pregnant women with Marfan syndrome were younger when surgery was performed (44 ± 9 vs. 59 ± 7 years; p = 0.041). In Marfan syndrome, long-term growth of the aorta was comparable between ever-pregnant and never-pregnant women. Pregnancy thus exhibited an increased immediate aortic risk only in women with Marfan syndrome, but not in women with bicuspid aortic valve disease. Previous pregnancy did not relate to an increased long-term risk of adverse aortic events in women with Marfan syndrome or with bicuspid aortic valve disease. Full article
(This article belongs to the Special Issue Current Challenges in the Diagnosis and Treatment of Hereditary and Congenital Aortopathies)
►▼ Show Figures

Figure 1

10 pages, 220 KiB  
Article
Body Image in Patients with Marfan Syndrome
by Laura Birke Hansen, Yskert von Kodolitsch, Friedrich Schroeder and Dieter Benninghoven
J. Clin. Med. 2020, 9(4), 1015; https://doi.org/10.3390/jcm9041015 - 03 Apr 2020
Cited by 5 | Viewed by 2495
Abstract
This study aimed to assess body image impairments of individuals with Marfan syndrome and to determine to what extent psychological, physical, and sociodemographic factors influence body image. We assessed the physical fitness and psychosocial health of 42 patients with Marfan syndrome at the [...] Read more.
This study aimed to assess body image impairments of individuals with Marfan syndrome and to determine to what extent psychological, physical, and sociodemographic factors influence body image. We assessed the physical fitness and psychosocial health of 42 patients with Marfan syndrome at the beginning of an inpatient rehabilitation program. All participants filled out a body image questionnaire consisting of two scales: (1) Negative Body Evaluation and (2) Vital Body Dynamics. We compared body image data of the study sample with the German representative norming sample and carried out two separate regression analyses in order to determine which variables were associated with the two dimensions of patients’ body image. Body image of individuals with Marfan syndrome appeared to be significantly impaired, with high percentile ranks for Negative Body Evaluation (women = 88, men = 91) and low percentile ranks for Vital Body Dynamics (women = 11, men = 4). Vital Body Dynamics was predicted by age (p = 0.016) and by depression (p < 0.001), and Negative Body Evaluation was predicted by anxiety (p = 0.001). Body image in individuals with Marfan syndrome is not primarily determined by objective measures of fitness or by objective cardiac impairment but by psychological variables like depression and anxiety and by age. This finding can inform treatment and rehabilitation concepts. Accepting Marfan syndrome, including the acceptance of being visually different, may not only demand medical treatment and physical rehabilitation but also psychological treatment for depression and anxiety. Full article
(This article belongs to the Special Issue Current Challenges in the Diagnosis and Treatment of Hereditary and Congenital Aortopathies)
19 pages, 4281 KiB  
Article
The Development of the Ascending Aortic Wall in Tricuspid and Bicuspid Aortic Valve: A Process from Maturation to Degeneration
by Nimrat Grewal, Adriana C. Gittenberger-de Groot, Jan von der Thusen, Lambertus J. Wisse, Margot M. Bartelings, Marco C. DeRuiter, Robert J.M. Klautz and Robert E. Poelmann
J. Clin. Med. 2020, 9(4), 908; https://doi.org/10.3390/jcm9040908 - 26 Mar 2020
Cited by 15 | Viewed by 2369
Abstract
Background: Patients with a bicuspid aortic valve (BAV) have an increased risk for aortic dilation and dissection. In this study, we provide a histological stratification of the developing aorta in the tricuspid aortic valve (TAV) and the BAV populations as a reference for [...] Read more.
Background: Patients with a bicuspid aortic valve (BAV) have an increased risk for aortic dilation and dissection. In this study, we provide a histological stratification of the developing aorta in the tricuspid aortic valve (TAV) and the BAV populations as a reference for future studies on aortopathy and related syndromes. Methods: Non-dilated TAV and BAV ascending aortic wall samples were collected, including 60 TAV (embryonic–70 years) and 32 BAV specimens (fetal–72 years, categorized in eight age groups. Results: In TAV, intimal development starts in the neonatal phase. After birth, the thickness of the medial layer increases significantly by increase of elastic lamellae up to and including the “young child” phase stabilizing afterwards. The BAV shows already prenatal intimal thickening becoming significantly thinner after birth subsequently stabilizing. In BAV, increase in elastic lamellae is seen between the young child and the adolescent phases, stabilizing afterwards. Conclusions: Vascular development in TAV is described in three phases: maturation, stabilization, and degeneration. For BAV, the development can be described in two phases: maturation (already prenatally) and degeneration. After birth, the development of the aorta is characterized by degeneration, leading to weakening of the ascending aortic wall and increasing the risk of aortopathy. Full article
(This article belongs to the Special Issue Current Challenges in the Diagnosis and Treatment of Hereditary and Congenital Aortopathies)
►▼ Show Figures

Figure 1

15 pages, 838 KiB  
Article
Assessment of the Psychological Situation in Adults with Congenital Heart Disease
by Caroline Andonian, Jürgen Beckmann, Peter Ewert, Sebastian Freilinger, Harald Kaemmerer, Renate Oberhoffer-Fritz, Martin Sack and Rhoia Neidenbach
J. Clin. Med. 2020, 9(3), 779; https://doi.org/10.3390/jcm9030779 - 13 Mar 2020
Cited by 21 | Viewed by 2952
Abstract
Background: Due to advances in the diagnosis and treatment of congenital heart disease (CHD), the number of adults who are surviving with congenital heart disease (ACHD) is constantly growing. Until recently, the psychological effects of CHD had been widely neglected. Current research provides [...] Read more.
Background: Due to advances in the diagnosis and treatment of congenital heart disease (CHD), the number of adults who are surviving with congenital heart disease (ACHD) is constantly growing. Until recently, the psychological effects of CHD had been widely neglected. Current research provides evidence for an increased risk of emotional distress in ACHD. The concept of illness identity attempts to explain how patients experience and integrate their CHD into their identities. The present study investigated illness identity in relation to clinical parameters and psychological functioning. Psychometric properties of the German version of the Illness Identity Questionnaire (IIQD) were examined. Methods: Self-reported measures on illness identity and psychological functioning (HADS-D) were assessed in a representative sample of 229 ACHD (38 ± 12.5 (18−73) years; 45% female) at the German Heart Center Munich. Descriptive analyses and multiple regression models were conducted. Confirmatory factor analysis was performed to validate the IIQD. Results: The IIQD demonstrated good reliability. The originally-postulated four-factor structure could not be replicated. Anatomic disease complexity and functional status significantly influenced illness identity. Illness identity accounted for unique variances in depression and anxiety: Maladaptive illness identity states (i.e., , engulfment and rejection) were associated with higher emotional distress, whereas adaptive illness (i.e., , acceptance and enrichment) identity states were linked to lower emotional distress. Conclusions: Illness Identity emerged as a predictor of emotional distress in ACHD. Findings raise the possibility that interventions designed to target a patient’s illness identity may improve psychological well-being and cardiac outcomes in ACHD. Full article
(This article belongs to the Special Issue Current Challenges in the Diagnosis and Treatment of Hereditary and Congenital Aortopathies)
►▼ Show Figures

Figure 1

12 pages, 470 KiB  
Article
Objective Assessment of Counselling for Fetal Heart Defects: An Interdisciplinary Multicenter Study
by Alexander Kovacevic, Stefan Bär, Sebastian Starystach, Andreas Simmelbauer, Michael Elsässer, Andreas Müller, Aida Mohammadi Motlagh, Renate Oberhoffer-Fritz, Eva Ostermayer, Peter Ewert, Matthias Gorenflo and Annette Wacker-Gussmann
J. Clin. Med. 2020, 9(2), 467; https://doi.org/10.3390/jcm9020467 - 08 Feb 2020
Cited by 8 | Viewed by 2702
Abstract
The objective of this study was to analyze parental counselling for fetal heart disease in an interdisciplinary and multicenter setting using a validated questionnaire covering medical, sociodemographic, and psychological aspects. n = 168 individuals were recruited from two pediatric heart centers and two [...] Read more.
The objective of this study was to analyze parental counselling for fetal heart disease in an interdisciplinary and multicenter setting using a validated questionnaire covering medical, sociodemographic, and psychological aspects. n = 168 individuals were recruited from two pediatric heart centers and two obstetrics units. Overall, counselling was combined successful and satisfying in >99%; only 0.7% of parents were dissatisfied. “Perceived situational control” was impaired in 22.6%. Adequate duration of counselling leads to more overall counselling success (r = 0.368 ***), as well as providing written or online information (57.7% vs. 41.5%), which is also correlated to more “Transfer of Medical Knowledge” (r = 0.261 ***). Interruptions of consultation are negatively correlated to overall counselling success (r = −0.247 **) and to “Transparency regarding the Treatment Process” (r = −0.227 **). Lacking a separate counselling room is associated with lower counselling success for “Transfer of Medical Knowledge” (r = 0.210 ***). High-risk congenital heart disease (CHD) is correlated to lower counselling success (42.7% vs. 71.4% in low-risk CHD). A lack of parental language skills leads to less overall counselling success. There is a trend towards more counselling success for “Transfer of Medical Knowledge” after being counselled solely by cardiologists in one center (r = 0.208). Our results indicate that a structured approach may lead to more counselling success in selected dimensions. For complex cardiac malformations, counselling by cardiologists is essential. Parental “Perceived Situational Control” is often impaired, highlighting the need for further support throughout the pregnancy. Full article
(This article belongs to the Special Issue Current Challenges in the Diagnosis and Treatment of Hereditary and Congenital Aortopathies)
►▼ Show Figures

Figure 1

9 pages, 459 KiB  
Article
Left Atrial Volumetric and Deformation Analysis in Adult Patients with Dextro-Transposition of the Great Arteries (Insights from the CSONGRAD Registry and MAGYAR-Path Study)
by Attila Nemes, Gergely Rácz, Árpád Kormányos, Péter Domsik, Anita Kalapos, Nándor Gyenes, Nóra Ambrus, Gábor Bogáts, István Hartyánszky and Kálmán Havasi
J. Clin. Med. 2020, 9(2), 463; https://doi.org/10.3390/jcm9020463 - 07 Feb 2020
Cited by 4 | Viewed by 1843
Abstract
Background: In complete or dextro-transposition of the great arteries (dTGA), the aorta and the pulmonary artery are transposed. The present study was designed to examine dTGA-associated left atrial (LA) volumetric and functional abnormalities in adult patients late after repair and to compare their [...] Read more.
Background: In complete or dextro-transposition of the great arteries (dTGA), the aorta and the pulmonary artery are transposed. The present study was designed to examine dTGA-associated left atrial (LA) volumetric and functional abnormalities in adult patients late after repair and to compare their results to those of healthy controls. Methods: The present study consisted of 15 dTGA patients (30.3 ± 8.1 years, 9 males), the patients had Mustard (n = 8) or Senning (n = 7) procedure performed. Their results were compared to those of 36 age- and gender-matched healthy subjects (28.7 ± 1.5 years, 24 males). Results: Increased maximum LA volume and reduced LA emptying fractions respecting the cardiac cycle could be demonstrated in our dTGA patients. LA stroke volumes representing all LA functions were significantly reduced. Peak LA circumferential, longitudinal, and area strains and LA circumferential, longitudinal, and area strains measured at atrial contraction were reduced in our dTGA patients. Most LA strains were reduced in patients having Mustard surgery compared to controls and patients undergoing Senning operation. Conclusions: Significant LA volumetric and functional abnormalities could be demonstrated in adult patients with dTGA late after repair. Senning procedure seems to have more beneficial long-term effects on LA volumetric and functional features as compared to the Mustard procedure. Full article
(This article belongs to the Special Issue Current Challenges in the Diagnosis and Treatment of Hereditary and Congenital Aortopathies)
►▼ Show Figures

Figure 1

9 pages, 1220 KiB  
Article
Differences in Aortopathy in Patients with a Bicuspid Aortic Valve with or without Aortic Coarctation
by Anthonie Duijnhouwer, Allard van den Hoven, Remy Merkx, Michiel Schokking, Roland van Kimmenade, Marlies Kempers, Arie van Dijk, Menko-Jan de Boer and Jolien Roos-Hesselink
J. Clin. Med. 2020, 9(2), 290; https://doi.org/10.3390/jcm9020290 - 21 Jan 2020
Cited by 8 | Viewed by 2745
Abstract
Objective: The combination of aortic coarctation (CoA) and bicuspid aortic valve (BAV) is assumed to be associated with a higher risk of ascending aortic dilatation and type A dissection, and current European Society of Cardiology (ESC) guidelines advise therefore to operate at a [...] Read more.
Objective: The combination of aortic coarctation (CoA) and bicuspid aortic valve (BAV) is assumed to be associated with a higher risk of ascending aortic dilatation and type A dissection, and current European Society of Cardiology (ESC) guidelines advise therefore to operate at a lower threshold in the presence of CoA. The aim of our study is to evaluate whether the coexistence of CoA in BAV patients is indeed associated with a higher risk of ascending aortic events (AAE). Methods: In a retrospective study, all adult BAV patients visiting the outpatient clinic of our tertiary care center between February 2003 and February 2019 were included. The primary end point was an ascending aortic event (AAE) defined as ascending aortic dissection/rupture or preventive surgery. The secondary end points were aortic dilatation and aortic growth. Results: In total, 499 BAV patients (43.7% female, age 40.3 ± 15.7 years) were included, of which 121 (24%) had a history of CoA (cBAV). An aortic event occurred in 38 (7.6%) patients at a mean age of 49.0 ± 13.6 years. In the isolated BAV group (iBAV), significantly more AAE occurred, but this was mainly driven by aortic valve dysfunction as indication for aortic surgery. There was no significant difference in the occurrence of dissection or severely dilated ascending aorta (>50 mm) between the iBAV and cBAV patients (p = 0.56). The aortic diameter was significantly smaller in the cBAV group (30.3 ± 6.9 mm versus 35.7 ± 7.6 mm; p < 0.001). The median aortic diameter increase was 0.23 (interquartile range (IQR): 0.0–0.67) mm/year and was not significantly different between both groups (p = 0.74). Conclusion: Coexistence of CoA in BAV patients was not associated with a higher risk of aortic dissection, preventive aortic surgery, aortic dilatation, or more rapid aorta growth. This study suggests that CoA is not a risk factor in BAV patients, and the advice to operate at lower diameter should be reevaluated. Full article
(This article belongs to the Special Issue Current Challenges in the Diagnosis and Treatment of Hereditary and Congenital Aortopathies)
►▼ Show Figures

Figure 1

10 pages, 565 KiB  
Article
Expression Patterns of Circulating MicroRNAs in the Risk Stratification of Bicuspid Aortopathy
by Evaldas Girdauskas, Niklas Neumann, Johannes Petersen, Tatiana Sequeira-Gross, Shiho Naito, Maria von Stumm, Yskert von Kodolitsch, Hermann Reichenspurner and Tanja Zeller
J. Clin. Med. 2020, 9(1), 276; https://doi.org/10.3390/jcm9010276 - 19 Jan 2020
Cited by 11 | Viewed by 2379
Abstract
Objective: Aortic size-based criteria are of limited value in the prediction of aortic events, while most aortic events occur in patients with proximal aortic diameters < 50 mm. Serological biomarkers and especially circulating microRNAs (miRNAs) have been proposed as an elegant tool to [...] Read more.
Objective: Aortic size-based criteria are of limited value in the prediction of aortic events, while most aortic events occur in patients with proximal aortic diameters < 50 mm. Serological biomarkers and especially circulating microRNAs (miRNAs) have been proposed as an elegant tool to improve risk stratification in patients with different aortopathies. Therefore, we aimed to evaluate the levels of circulating miRNAs in a surgical cohort of patients presenting with bicuspid aortic valve disease and distinct valvulo-aortic phenotypes. Methods: We prospectively examined a consecutive cohort of 145 patients referred for aortic valve surgery: (1) Sixty three patients (mean age 47 ± 11 years, 92% male) with bicuspid aortic valve regurgitation and root dilatation (BAV-AR), (2) thirty two patients (mean age 59 ± 11 years, 73% male) with bicuspid aortic valve stenosis (BAV-AS), and (3) fifty patients (mean age 56 ± 14 years, 55% male) with tricuspid aortic valve stenosis and normal aortic root diameters (TAV-AS) who underwent aortic valve+/-proximal aortic surgery at a single institution. MicroRNAs analysis included 11 miRNAs, all published previously in association with aortopathies. Endpoints of our study were (1) correlation between circulating miRNAs and aortic diameter and (2) comparison of circulating miRNAs in distinct valvulo-aortic phenotypes. Results: We found a significant inverse linear correlation between circulating miRNAs levels and proximal aortic diameter in the whole study cohort. The strongest correlation was found for miR-17 (r = −0.42, p < 0.001), miR-20a (r = −0.37, p < 0.001), and miR-106a (r = −0.32, p < 0.001). All miRNAs were significantly downregulated in BAV vs. TAV with normal aortic root dimensions Conclusions: Our data demonstrate a significant inverse correlation between circulating miRNAs levels and the maximal aortic diameter in BAV aortopathy. When comparing miRNAs expression patterns in BAV vs. TAV patients with normal aortic root dimensions, BAV patients showed significant downregulation of analyzed miRNAs as compared to their TAV counterparts. Further multicenter studies in larger cohorts are needed to further validate these results. Full article
(This article belongs to the Special Issue Current Challenges in the Diagnosis and Treatment of Hereditary and Congenital Aortopathies)
►▼ Show Figures

Figure 1

18 pages, 1792 KiB  
Article
Case-matched Comparison of Cardiovascular Outcome in Loeys-Dietz Syndrome versus Marfan Syndrome
by Kristina Mühlstädt, Julie De Backer, Yskert von Kodolitsch, Kerstin Kutsche, Laura Muiño Mosquera, Jens Brickwedel, Evaldas Girdauskas, Thomas S. Mir, Adrian Mahlmann, Nikolaos Tsilimparis, Axel Staebler, Lauritz Schoof, Heide Seidel, Jürgen Berger, Alexander M. Bernhardt, Stefan Blankenberg, Tilo Kölbel, Christian Detter, Katalin Szöcs and Harald Kaemmerer
J. Clin. Med. 2019, 8(12), 2079; https://doi.org/10.3390/jcm8122079 - 29 Nov 2019
Cited by 21 | Viewed by 5445
Abstract
Background: Pathogenic variants in TGFBR1, TGFBR2 and SMAD3 genes cause Loeys-Dietz syndrome, and pathogenic variants in FBN1 cause Marfan syndrome. Despite their similar phenotypes, both syndromes may have different cardiovascular outcomes. Methods: Three expert centers performed a case-matched comparison of cardiovascular outcomes. [...] Read more.
Background: Pathogenic variants in TGFBR1, TGFBR2 and SMAD3 genes cause Loeys-Dietz syndrome, and pathogenic variants in FBN1 cause Marfan syndrome. Despite their similar phenotypes, both syndromes may have different cardiovascular outcomes. Methods: Three expert centers performed a case-matched comparison of cardiovascular outcomes. The Loeys-Dietz group comprised 43 men and 40 women with a mean age of 34 ± 18 years. Twenty-six individuals had pathogenic variants in TGFBR1, 40 in TGFBR2, and 17 in SMAD3. For case-matched comparison we used 83 age and sex-frequency matched individuals with Marfan syndrome. Results: In Loeys-Dietz compared to Marfan syndrome, a patent ductus arteriosus (p = 0.014) was more prevalent, the craniofacial score was higher (p < 0.001), the systemic score lower (p < 0.001), and mitral valve prolapse less frequent (p = 0.003). Mean survival for Loeys-Dietz and Marfan syndrome was similar (75 ± 3 versus 73 ± 2 years; p = 0.811). Cardiovascular outcome was comparable between Loeys-Dietz and Marfan syndrome, including mean freedom from proximal aortic surgery (53 ± 4 versus 48 ± 3 years; p = 0.589), distal aortic repair (72 ± 3 versus 67 ± 2 years; p = 0.777), mitral valve surgery (75 ± 4 versus 65 ± 3 years; p = 0.108), and reintervention (20 ± 3 versus 14 ± 2 years; p = 0.112). In Loeys-Dietz syndrome, lower age at initial presentation predicted proximal aortic surgery (HR = 0.748; p < 0.001), where receiver operating characteristic analysis identified ≤33.5 years with increased risk. In addition, increased aortic sinus diameters (HR = 6.502; p = 0.001), and higher systemic score points at least marginally (HR = 1.175; p = 0.065) related to proximal aortic surgery in Loeys-Dietz syndrome. Conclusions: Cardiovascular outcome of Loeys-Dietz syndrome was comparable to Marfan syndrome, but the severity of systemic manifestations was a predictor of proximal aortic surgery. Full article
(This article belongs to the Special Issue Current Challenges in the Diagnosis and Treatment of Hereditary and Congenital Aortopathies)
►▼ Show Figures

Figure 1

9 pages, 824 KiB  
Article
Progressive Pulmonary Artery Dilatation is Associated with Type B Aortic Dissection in Patients with Marfan Syndrome
by Christel Brouwer, Haldun Bulut, Willemijn van Gemert, Alexander HJ Staal, Kim Cortenbach, Miranda Snoeren, Robin Nijveldt, Anthonie Duijnhouwer, Bart L Loeys, Niels van Royen, Janneke Timmermans and Roland RJ van Kimmenade
J. Clin. Med. 2019, 8(11), 1848; https://doi.org/10.3390/jcm8111848 - 02 Nov 2019
Cited by 4 | Viewed by 3173
Abstract
Objective: Marfan syndrome (MFS) is a connective tissue disorder associated with severe cardiovascular morbidity and mortality. It is unknown if aorta complications in MFS are associated with progressive pulmonary artery (PA) dilatation. Methods: We measured the PA diameter on routine magnetic resonance imaging [...] Read more.
Objective: Marfan syndrome (MFS) is a connective tissue disorder associated with severe cardiovascular morbidity and mortality. It is unknown if aorta complications in MFS are associated with progressive pulmonary artery (PA) dilatation. Methods: We measured the PA diameter on routine magnetic resonance imaging in a population of MFS patients seen in our specialised centre with follow up of diameters as well as the outcome. Results: PA dilatation was defined as an increase in diameter of 2 mm or more, and 71 patients (44%) of our total cohort (n = 162) met this criterion; mean follow up between two scans was 8.6 years (standard deviation (SD) ± 2.7 years). Furthermore, 28 patients suffered from dissections, of which 14 had a type A dissection, 10 had a type B dissection, and 4 patients suffered from both. Of those who suffered from dissection, 64% (18 out of 28) had a dilatation of the PA, versus 39% (53 out of 134) in the patient group without a dissection (p < 0.05). There was a significant association between type B dissection and descending aorta diameter (OR 1.14; 95% CI 1.05–1.24 p < 0.01) and PA dilatation (OR 1.69; 95% CI 1.03–2.77 p = 0.04). In the multivariable analysis the final model for type B dissection, only systolic blood pressure (OR 1.06; 95% CI 1.01–1.11 p = 0.02) and PA dilatation were statistically significant (OR 1.85; 95% CI 1.10–3.12 p = 0.02) while descending aorta diameter was not. Conclusions: We report an association between progressive PA dilatation and type B dissection. Our findings encourage a renewed interest in PA dimensions in MFS. Full article
(This article belongs to the Special Issue Current Challenges in the Diagnosis and Treatment of Hereditary and Congenital Aortopathies)
►▼ Show Figures

Figure 1

15 pages, 15281 KiB  
Article
Predicting Disease Progression in Patients with Bicuspid Aortic Stenosis Using Mathematical Modeling
by Darae Kim, Dongwoo Chae, Chi Young Shim, In-Jeong Cho, Geu-Ru Hong, Kyungsoo Park and Jong-Won Ha
J. Clin. Med. 2019, 8(9), 1302; https://doi.org/10.3390/jcm8091302 - 24 Aug 2019
Cited by 6 | Viewed by 3193
Abstract
We aimed to develop a mathematical model to predict the progression of aortic stenosis (AS) and aortic dilatation (AD) in bicuspid aortic valve patients. Bicuspid AS patients who underwent at least two serial echocardiograms from 2005 to 2017 were enrolled. Mathematical modeling was [...] Read more.
We aimed to develop a mathematical model to predict the progression of aortic stenosis (AS) and aortic dilatation (AD) in bicuspid aortic valve patients. Bicuspid AS patients who underwent at least two serial echocardiograms from 2005 to 2017 were enrolled. Mathematical modeling was undertaken to assess (1) the non-linearity associated with the disease progression and (2) the importance of first visit echocardiogram in predicting the overall prognosis. Models were trained in 126 patients and validated in an additional cohort of 43 patients. AS was best described by a logistic function of time. Patients who showed an increase in mean pressure gradient (MPG) at their first visit relative to baseline (denoted as rapid progressors) showed a significantly faster disease progression overall. The core model parameter reflecting the rate of disease progression, α, was 0.012/month in the rapid progressors and 0.0032/month in the slow progressors (p < 0.0001). AD progression was best described by a simple linear function, with an increment rate of 0.019 mm/month. Validation of models in a separate prospective cohort yielded comparable R squared statistics for predicted outcomes. Our novel disease progression model for bicuspid AS significantly increased prediction power by including subsequent follow-up visit information rather than baseline information alone. Full article
(This article belongs to the Special Issue Current Challenges in the Diagnosis and Treatment of Hereditary and Congenital Aortopathies)
►▼ Show Figures

Figure 1

12 pages, 266 KiB  
Article
Oral Health in Adults with Congenital Heart Disease
by Matthias Folwaczny, Saskia Wilberg, Caspar Bumm, Stefan Hollatz, Renate Oberhoffer, Rhoia Clara Neidenbach, Harald Kaemmerer and Iris Frasheri
J. Clin. Med. 2019, 8(8), 1255; https://doi.org/10.3390/jcm8081255 - 19 Aug 2019
Cited by 6 | Viewed by 3705
Abstract
Oral bacteria and odontogenic oral infections are responsible for a high portion of cases with infective endocarditis. Hence, oral health in patients with congenital heart disease (CHD) gains particular importance. This case-control study compared the oral health status in 112 adults with CHD [...] Read more.
Oral bacteria and odontogenic oral infections are responsible for a high portion of cases with infective endocarditis. Hence, oral health in patients with congenital heart disease (CHD) gains particular importance. This case-control study compared the oral health status in 112 adults with CHD and 168 healthy control subjects. In addition, the patient group was stratified according to the complexity of the heart defect and the recommendation for antibiotic prophylaxis during invasive dental procedures. Considering caries experience, a significantly lower mean DMFT (decayed missing filled teeth) score (7.91 ± 6.63 vs. 13.6 ± 8.15; p < 0.0001) was found in patients with CHD compared to healthy controls. Healthy controls had a higher average number of decayed teeth (0.33 ± 0.76 vs. 1.76 ± 2.61; p < 0.0001). In female subjects a significant lower relative amount of teeth with apical periodontitis was found among CHD patients (3.4% ± 0.9%) as compared to healthy controls (5.6% ± 1.9%) (p = 0.053). Regarding periodontal health, patients with CHD had lower rate of sulcus bleeding (0.32 ± 0.65 vs. 0.71 ± 0.60; p < 0.0001) and less alveolar bone loss than heart healthy individuals (% root length: multi rooted teeth: 8.97 ± 10.64 vs. 23.22 ± 20.70; p < 0.0001; single rooted teeth: 5.59 ± 6.25 vs. 17.30 ± 17.17; p = 0.003). On the contrary, CHD patients presented with higher amount of plaque in comparison to healthy controls (Quigley & Hein index: 2.22 ± 0.67 vs. 1.25 ± 0.72; p < 0.0001). Based on the current results, it can be concluded that adults with CHD have better oral health than heart healthy individuals. Full article
(This article belongs to the Special Issue Current Challenges in the Diagnosis and Treatment of Hereditary and Congenital Aortopathies)
►▼ Show Figures

Figure 1

Review

Jump to: Editorial, Research

14 pages, 1145 KiB  
Review
Non-Vitamin K Oral Anticoagulants in Adults with Congenital Heart Disease: A Systematic Review
by Nikolaos Stalikas, Ioannis Doundoulakis, Efstratios Karagiannidis, Emmanouil Bouras, Anastasios Kartas, Alexandra Frogoudaki, Haralambos Karvounis, Konstantinos Dimopoulos and George Giannakoulas
J. Clin. Med. 2020, 9(6), 1794; https://doi.org/10.3390/jcm9061794 - 09 Jun 2020
Cited by 17 | Viewed by 4644
Abstract
Adults with congenital heart disease (ACHD) experience more thromboembolic complications than the general population. We systematically searched and critically appraised all studies on the safety and efficacy of non-vitamin-K oral anticoagulants (NOACs) in adult patients with various forms of congenital heart disease. PubMed [...] Read more.
Adults with congenital heart disease (ACHD) experience more thromboembolic complications than the general population. We systematically searched and critically appraised all studies on the safety and efficacy of non-vitamin-K oral anticoagulants (NOACs) in adult patients with various forms of congenital heart disease. PubMed and the Cochrane Central Register of Controlled Trials (CENTRAL) were used, with duplicate extraction of data and risk of bias assessment. The Newcastle-Ottawa quality assessment scale was used to assess study quality. Three studies fulfilled the inclusion criteria and were analyzed. The total number of participants was 766, with a total follow-up of 923 patient-years. The majority of patients (77%) received a NOAC for atrial arrhythmias, while the remainder were prescribed NOACs for secondary (19%) or primary (4%) thromboprophylaxis. The annual rate of thromboembolic and major bleeding events was low: 0.98% (95% CI: 0.51–1.86) and 1.74% (95% CI: 0.86–3.49) respectively. In Fontan patients, the annual rate of thromboembolic and major bleeding events was 3.13% (95% CI: 1.18–8.03) and 3.17% (95% CI: 0.15–41.39) respectively. NOACs appear safe and effective in ACHD without mechanical prostheses. Additional studies are, however, needed to confirm their efficacy in complex ACHD, especially those with a Fontan-type circulation. Full article
(This article belongs to the Special Issue Current Challenges in the Diagnosis and Treatment of Hereditary and Congenital Aortopathies)
►▼ Show Figures

Figure 1

13 pages, 1261 KiB  
Review
Current and Future Aspects of Multimodal Imaging, Diagnostic, and Treatment Strategies in Bicuspid Aortic Valve and Associated Aortopathies
by Shazia Afzal, Kerstin Piayda, Oliver Maier, Shouheng Goh, Katharina Hellhammer, Mareike Cramer, Florian Bönner, Amin Polzin, Niels Nijhof, Malte Kelm, Tobias Zeus and Verena Veulemans
J. Clin. Med. 2020, 9(3), 662; https://doi.org/10.3390/jcm9030662 - 01 Mar 2020
Cited by 2 | Viewed by 2877
Abstract
Bicuspid aortic valve (BAV) is the most frequent congenital cardiac abnormality leading to premature aortic valve apparatus dysfunction and is often associated with aortopathy. Therefore, current guidelines recommend a surgical aortic valve replacement (SAVR), even if many patients are deemed inoperable owing to [...] Read more.
Bicuspid aortic valve (BAV) is the most frequent congenital cardiac abnormality leading to premature aortic valve apparatus dysfunction and is often associated with aortopathy. Therefore, current guidelines recommend a surgical aortic valve replacement (SAVR), even if many patients are deemed inoperable owing to their comorbidities and require alternatives such as transcatheter aortic valve replacement (TAVR). However, BAV variations remain challenging for procedural success. Therefore, the latest development in different imaging modalities (echocardiography, multislice-computertomographie, cardiovascular magnetic resonance) allows in-depth analysis for preprocedural risk stratification, follow up, and patient selection. Furthermore, we shed light on the latest developments in pre- and periprocedural fusion imaging as well as on current and future treatment options. Full article
(This article belongs to the Special Issue Current Challenges in the Diagnosis and Treatment of Hereditary and Congenital Aortopathies)
►▼ Show Figures

Figure 1

Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:
 
Displaying articles 1-20
Back to TopTop