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Diagnostics
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Diagnosis and Management of Congenital Heart Disease
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Diagnosis and Management of Congenital Heart Disease

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: 30 November 2024 | Viewed by 15479

Special Issue Editors

Dr. Georgios Samanidis

E-Mail Website
Guest Editor
Department of Adult Cardiac Surgery, Onassis Cardiac Surgery Center, 356 Leoforos Syggrou, 17674 Athens, Greece
Interests: evidence based medicine; cardiac surgery; thoracic aorta diseases; heart valve diseases; minimal invasive cardiac surgery; outcomes; cardiovascular disease pathologies; cardiovascular disease treatments; biomarkers in cardiovascular disease; critical care patients
Special Issues, Collections and Topics in MDPI journals
Dr. Meletios Kanakis

E-Mail Website
Co-Guest Editor
Department of Pediatric and Congenital Heart Surgery, Onassis Cardiac Surgery Center, 356 Leoforos Syggrou, Athens 17674, Greece
Interests: pediatric cardiac surgery; pediatric cardiology; congenital heart surgery; pediatric cardiology intensive care; pediatric cardiac surgery intensive care; critical care patients with congenital heart disease; outcomes after pediatric cardiac surgery; complex congenital heart disease; diagnosis; treatment; outcomes; long-term follow-up
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues, 

In patients with congenital heart disease, diagnostic approaches remain the first stage in the appropriate treatment of these patients, which promotes successful outcomes. The detailed preoperative assessment of complex congenital heart disease contributes to the application of appropriate treatments. Novel diagnostic approaches such as 3D echocardiography, cardiac computed tomography, 4D magnetic resonance imaging and 3D reconstruction images offer additional information about complex congenital heart defects.

On the other hand, the outcomes after treating patients with congenital heart diseases depend on many factors. Cardiac intensive care units play crucial roles in the management of critically ill newborns, neonates and children after invasive procedures or cardiac surgery operations, as well as in the management of adults with congenital heart disease. Complex cardiac invasive procedures and complex cardiac surgery require advanced knowledge. In addition to the use of imaging diagnostic approaches in patients with congenital heart disease, many biomarkers have been proposed for the monitoring and prediction of adverse events before, during and after treatment.

The scope of this Special Issue is present current knowledge concerning the diagnosis and management of patients with congenital heart defects from the neonatal period to adulthood.

We invite you to submit your research articles, which could be original research or reviews.

Dr. Georgios Samanidis
Dr. Meletios Kanakis
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. Diagnostics 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

  • congenital heart disease
  • new diagnostic approach in congenital heart disease
  • complex congenital heart disease
  • diagnosis for neonatal congenital heart diseases
  • management of neonates with congenital heart disease
  • pediatric cardiac surgery
  • pediatric cardiology
  • advanced pediatric cardiac surgery
  • cardiac intensive care unit
  • cardiac surgery intensive care unit

Published Papers (6 papers)

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Research

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12 pages, 262 KiB  
Article
Investigation of the Role of BMP2 and -4 in ASD, VSD and Complex Congenital Heart Disease
by Dimitrios Bobos, Giannoula Soufla, Dimitrios C. Angouras, Ioannis Lekakis, Sotirios Georgopoulos and Euthemia Melissari
Diagnostics 2023, 13(16), 2717; https://doi.org/10.3390/diagnostics13162717 - 21 Aug 2023
Viewed by 817
Abstract
Congenital heart malformations (CHMs) make up between 2 and 3% of annual human births. Bone morphogenetic proteins (BMPs) signalling is required for chamber myocardium development. We examined for possible molecular defects in the bone morphogenetic protein 2 and 4 (BMP2, -4) genes [...] Read more.
Congenital heart malformations (CHMs) make up between 2 and 3% of annual human births. Bone morphogenetic proteins (BMPs) signalling is required for chamber myocardium development. We examined for possible molecular defects in the bone morphogenetic protein 2 and 4 (BMP2, -4) genes by sequencing analysis of all coding exons, as well as possible transcription or protein expression deregulation by real-time PCR and ELISA, respectively, in 52 heart biopsies with congenital malformations (atrial septal defect (ASD), ventricular septal defect (VSD), tetralogy ofFallot (ToF) and complex cases) compared to 10 non-congenital heart disease (CHD) hearts. No loss of function mutations was found; only synonymous single nucleotide polymorphisms (SNPs) in the BMP2 and BMP4 genes were found. Deregulation of the mRNA expression and co-expression profile of the two genes (BMP2/BMP4) was observed in the affected compared to the normal hearts. BMP2 and -4 protein expression levels were similar in normal and affected hearts. This is the first study assessing the role of BMP-2 and 4 in congenital heart malformations. Our analysis did not reveal molecular defects in the BMP2 and -4 genes that could support a causal relationship with the congenital defects present in our patients. Importantly, sustained mRNA and protein expression of BMP2 and -4 in CHD cases compared to controls indicates possible temporal epigenetic, microRNA or post-transcriptional regulation mechanisms governing the initial stages of cardiac malformation. Full article
(This article belongs to the Special Issue Diagnosis and Management of Congenital Heart Disease)
12 pages, 1192 KiB  
Article
Left Atrioventricular Transvalvular Pressure Gradients Derived from Intraoperative and Postoperative Echocardiograms following Atrioventricular Septal Defect Repair
by Maximilian Bamberg, Mark Simon, Andrea Bandini, Julia Kelley Hahn, Christian Schlensak, Vanya Icheva, Michael Hofbeck, Peter Rosenberger, Harry Magunia and Marius Keller
Diagnostics 2023, 13(5), 957; https://doi.org/10.3390/diagnostics13050957 - 02 Mar 2023
Viewed by 1664
Abstract
Background: Left atrioventricular valve (LAVV) stenosis following an atrioventricular septal defect (AVSD) repair is a rare but potentially life-threatening complication. While echocardiographic quantification of diastolic transvalvular pressure gradients is paramount in the evaluation of a newly corrected valve function, it is hypothesized that [...] Read more.
Background: Left atrioventricular valve (LAVV) stenosis following an atrioventricular septal defect (AVSD) repair is a rare but potentially life-threatening complication. While echocardiographic quantification of diastolic transvalvular pressure gradients is paramount in the evaluation of a newly corrected valve function, it is hypothesized that these measured gradients are overestimated immediately following a cardiopulmonary bypass (CPB) due to the altered hemodynamics when compared to postoperative valve assessments using awake transthoracic echocardiography (TTE) upon recovery after surgery. Methods: Out of the 72 patients screened for inclusion at a tertiary center, 39 patients undergoing an AVSD repair with both intraoperative transesophageal echocardiograms (TEE, performed immediately after a CPB) and an awake TTE (performed prior to hospital discharge) were retrospectively selected. The mean (MPGs) and peak pressure gradients (PPGs) were quantified using a Doppler echocardiography and other measures of interest were recorded (e.g., a non-invasive surrogate of the cardiac output and index (CI), left ventricular ejection fraction, blood pressures and airway pressures). The variables were analyzed using the paired Student’s t-tests and Spearman’s correlation coefficients. Results: The MPGs were significantly higher in the intraoperative measurements when compared to the awake TTE (3.0 ± 1.2 vs. 2.3 ± 1.1 mmHg; p < 0.01); however, the PPGs did not significantly differ (6.6 ± 2.7 vs. 5.7 ± 2.8 mmHg; p = 0.06). Although the assessed intraoperative heart rates (HRs) were also higher (132 ± 17 vs. 114 ± 21 bpm; p < 0.001), there was no correlation found between the MPG and the HR, or any other parameter of interest, at either time-point. In a further analysis, a moderate to strong correlation was observed in the linear relationship between the CI and the MPG (r = 0.60; p < 0.001). During the in-hospital follow-up period, no patients died or required an intervention due to LAVV stenosis. Conclusions: The Doppler-based quantification of diastolic transvalvular LAVV mean pressure gradients using intraoperative transesophageal echocardiography seems to be prone to overestimation due to altered hemodynamics immediately after an AVSD repair. Thus, the current hemodynamic state should be taken into consideration during the intraoperative interpretation of these gradients. Full article
(This article belongs to the Special Issue Diagnosis and Management of Congenital Heart Disease)
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10 pages, 1979 KiB  
Article
Quantification of Pulmonary Artery Configuration after the Arterial Switch Operation: A Pilot Study
by Thomas Martens, Gillian Claeys, Joachim De Groote, Meletios Kanakis, Martin Kostolny, Victor Tsang and Marina Hughes
Diagnostics 2022, 12(11), 2629; https://doi.org/10.3390/diagnostics12112629 - 30 Oct 2022
Viewed by 1223
Abstract
Background: The arterial switch operation (ASO) is the preferred treatment for d-transposition of the great arteries (TGA). Freedom from reintervention is mainly determined by the performance of the arterial outflow tracts, with variable incidence of pulmonary artery stenosis (PAS), possibly related to aspects [...] Read more.
Background: The arterial switch operation (ASO) is the preferred treatment for d-transposition of the great arteries (TGA). Freedom from reintervention is mainly determined by the performance of the arterial outflow tracts, with variable incidence of pulmonary artery stenosis (PAS), possibly related to aspects of surgical technique. This pilot study attempts to describe pulmonary artery (PA) configuration through several measurements using three-dimensional data from cardiac magnetic resonance (CMR) imaging and assesses whether PA configuration is associated with PAS. Methods: A retrospective, single-centre analysis of paediatric patients undergoing CMR after ASO. The geometry of the pulmonary arteries was compared between patients with and without PAS as judged by the CMR report. Results: Among all patients (n = 612) after ASO, 45 patients underwent CMR at a median age of 10 years (3.5–13). Twenty-two (57.9%) had PAS, categorized as mild (n = 1), moderate (n = 19) or severe (n = 2). Eighteen had stenosis on PA branches. Four had MPA stenosis. Comparison between groups with and without PAS revealed no significant differences in neo-aortic to pulmonary angle, MPA to LPA/RPA angle, or bifurcation angle. There was a significant difference in cranial displacement, with more cranial displacement in the group without PAS. However, this group was older, 10.8 (7.3–14.3) years compared to those with PAS, 6.8 (1.5–12.1). Conclusions: The spectrum of PAS after ASO is heterogenous. This study shows the feasibility of measuring PA configuration in three planes on CMR. There is no correlation between PA configuration and PAS. Therefore, other mechanisms are probably responsible for the occurrence of PAS, rather than the configuration on itself. Further multicentric studies are warranted to confirm the suggested measuring method and assessing the associations with PAS, to eventually advise surgical methodology. Full article
(This article belongs to the Special Issue Diagnosis and Management of Congenital Heart Disease)
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15 pages, 1240 KiB  
Article
Acute Kidney Injury Predictors and Outcomes after Cardiac Surgery in Children with Congenital Heart Disease: An Observational Cohort Study
by Georgios Kourelis, Meletios Kanakis, George Samanidis, Kimon Tzannis, Dimitrios Bobos, Theofili Kousi, Sotiria Apostolopoulou, Felicia Kakava, Konstantinos Kyriakoulis, Stavroula Bounta, Spyridon Rammos, John Papagiannis, Nickolas Giannopoulos, Stylianos E. Orfanos and George Dimopoulos
Diagnostics 2022, 12(10), 2397; https://doi.org/10.3390/diagnostics12102397 - 02 Oct 2022
Cited by 4 | Viewed by 1965
Abstract
Acute Kidney Injury (AKI) commonly complicates cardiac surgery in children with congenital heart disease (CHD). In this study we assessed incidence, risk factors, and outcomes of postoperative AKI, while testing the hypothesis that, depending on the underlying diagnosis, there would be significant differences [...] Read more.
Acute Kidney Injury (AKI) commonly complicates cardiac surgery in children with congenital heart disease (CHD). In this study we assessed incidence, risk factors, and outcomes of postoperative AKI, while testing the hypothesis that, depending on the underlying diagnosis, there would be significant differences in AKI incidence among different diagnostic groups. We conducted an observational cohort study of children with CHD undergoing cardiac surgery in a single tertiary center between January 2019 and August 2021 (n = 362). Kidney Disease Improving Global Outcome (KDIGO) criteria were used to determine the incidence of postoperative AKI. Diagnosis was incorporated into multivariate models using an anatomic-based CHD classification system. Overall survival was estimated using Kaplan–Meier curves. Log-rank test and adjusted Cox proportional hazard modelling were used to test for differences in survival distributions and determine AKI effect on survival function, respectively. AKI occurred in 70 (19.3%), with 21.4% in-hospital mortality for AKI group. Younger age, lower weight, longer cardiopulmonary bypass time, preoperative mechanical ventilation and diagnostic category were associated with postoperative AKI. Resolution rate was 92.7% prior to hospital discharge for survivors. AKI was associated with longer duration of mechanical ventilation, ICU and hospital length of stay. AKI patients had significantly higher probability of all-cause mortality postoperatively when compared to the non-AKI group (log-rank test, p < 0.001). Adjusted hazard ratio for AKI versus non-AKI group was 11.08 (95% CI 2.45–50.01; p = 0.002). Diagnostic category was associated with cardiac surgery-related AKI in children with CHD, a finding supporting the development of lesion specific models for risk stratification. Postoperative AKI had detrimental impact on clinical outcomes and was associated with decreased survival to hospital discharge. Full article
(This article belongs to the Special Issue Diagnosis and Management of Congenital Heart Disease)
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Review

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17 pages, 456 KiB  
Review
Omphalocele and Cardiac Abnormalities—The Importance of the Association
by Elena Țarcă, Dina Al Namat, Alina Costina Luca, Vasile Valeriu Lupu, Razan Al Namat, Ancuța Lupu, Laura Bălănescu, Jana Bernic, Lăcrămioara Ionela Butnariu, Mihaela Moscalu and Marius Valeriu Hînganu
Diagnostics 2023, 13(8), 1413; https://doi.org/10.3390/diagnostics13081413 - 14 Apr 2023
Cited by 1 | Viewed by 1764
Abstract
Omphalocele is the most common ventral abdominal wall defect. Omphalocele is associated with other significant anomalies in up to 80% of cases, among which the cardiac ones are the most frequent. The aim of our paper is to highlight, through a review of [...] Read more.
Omphalocele is the most common ventral abdominal wall defect. Omphalocele is associated with other significant anomalies in up to 80% of cases, among which the cardiac ones are the most frequent. The aim of our paper is to highlight, through a review of the literature, the importance and frequency of association between the two malformations and what impact this association has on the management and evolution of patients with these pathologies. We reviewed the titles, the available abstracts, and the full texts of 244 papers from the last 23 years, from three medical databases, to extract data for our review. Due to the frequent association of the two malformations and the unfavorable effect of the major cardiac anomaly on the prognosis of the newborn, the electrocardiogram and echocardiography must be included in the first postnatal investigations. The timing of surgery for abdominal wall defect closure is mostly dictated by the cardiac defect severity, and usually the cardiac defect takes priority. After the cardiac defect is medically stabilized or surgically repaired, the omphalocele reduction and closure of the abdominal defect are performed in a more controlled setting, with improved outcomes. Compared to omphalocele patients without cardiac defects, children with this association are more likely to experience prolonged hospitalizations, neurologic, and cognitive impairments. Major cardiac abnormalities such as structural defects that require surgical treatment or result in developmental delay will significantly increase the death rate of patients with omphalocele. In conclusion, the prenatal diagnosis of omphalocele and early detection of other associated structural or chromosomal anomalies are of overwhelming importance, contributing to the establishment of antenatal and postnatal prognosis. Full article
(This article belongs to the Special Issue Diagnosis and Management of Congenital Heart Disease)
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37 pages, 73340 KiB  
Review
Role of Echocardiography in the Diagnosis and Interventional Management of Atrial Septal Defects
by P. Syamasundar Rao
Diagnostics 2022, 12(6), 1494; https://doi.org/10.3390/diagnostics12061494 - 18 Jun 2022
Cited by 5 | Viewed by 7156
Abstract
This review centers on the usefulness of echo-Doppler studies in the diagnosis of ostium secundum atrial septal defects (ASDs) and in their management, both in children and adults. Transthoracic echocardiography can easily identify the secundum ASDs and also differentiate secundum ASDs from other [...] Read more.
This review centers on the usefulness of echo-Doppler studies in the diagnosis of ostium secundum atrial septal defects (ASDs) and in their management, both in children and adults. Transthoracic echocardiography can easily identify the secundum ASDs and also differentiate secundum ASDs from other kinds of ASDs, such as ostium primum ASD, sinus venosus ASD and coronary sinus ASD, as well as patent foramen ovale. Preliminary selection of patients for device occlusion can be made by transthoracic echocardiograms while final selection is based on transesophageal (TEE) or intracardiac (ICE) echocardiographic studies with optional balloon sizing of ASDs. TEE and ICE are extremely valuable in guiding device implantation and in evaluating the position of the device following its implantation. Echo-Doppler evaluation during follow-up is also useful in documenting improvements in ventricular size and function, in assessing the device position, in detecting residual shunts, and in identifying rare device-related complications. Examples of echo images under each section are presented. The reasons why echo-Doppler is very valuable in diagnosing and managing ASDs are extensively discussed. Full article
(This article belongs to the Special Issue Diagnosis and Management of Congenital Heart Disease)
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