Advances in Heart Disease

A special issue of Life (ISSN 2075-1729). This special issue belongs to the section "Medical Research".

Deadline for manuscript submissions: closed (30 August 2023) | Viewed by 30392

Special Issue Editor


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Guest Editor
1. Central University Hospital of Asturias (HUCA), Molecular Genetics Department, 33011 Oviedo, Spain
2. Institute of Health Research of the Principality of Asturias (ISPA), 33011 Oviedo, Spain
3. Renal Research Network (REDINREN), 28041 Madrid, Spain
Interests: next-generation sequencing; familial cardiomyopathies; hypertrphic cardiomyopathy; familial canalopathies; Marfan syndrome; familial thoracic aortic aneurysm and dissection; COVID-19; SARS-CoV-2; renal disease

Special Issue Information

Dear Colleagues,

It is our pleasure to invite you to submit an article to this Special Issue on heart diseases, which will incorporate manuscripts on the multiple diseases that affect the cardiovascular system—a topic of great significance for life on Earth and the evolution of the species. The present Special Issue, edited by Dr. Juan Gómez, will focus mainly on heart diseases which follow a heritage pattern, such as familial cardiomyopathies and channelopathies. Heart diseases are often incapacitating and some of the most frequent causes of death and co-morbidities. The recent proliferation of genetic studies on heart diseases’ emergence and dissemination and the cost–benefit tradeoff have allowed a better understanding of these diseases, especially since the development of next-generation sequencing techniques, turning this issue into a hot topic in the field of life science. This Special Issue is now open for submissions. Prospective authors should first send a short abstract or tentative title to the Editorial Office. If the editors deem the topic to be appropriate for inclusion in the Special Issue, the author will be encouraged to submit a full manuscript.

Dr. Juan Gómez
Guest Editor

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. Life is an international peer-reviewed open access monthly 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

  • heart diseases
  • familial cardiomyopathies
  • next-generation sequencing
  • familial canalopathies
  • DNA
  • RNA
  • cardiological events

Published Papers (14 papers)

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Research

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15 pages, 49394 KiB  
Article
What Links Chronic Kidney Disease and Ischemic Cardiomyopathy? A Comprehensive Bioinformatic Analysis Utilizing Bulk and Single-Cell RNA Sequencing Data with Machine Learning
by Lingzhi Yang, Yunwei Chen and Wei Huang
Life 2023, 13(11), 2215; https://doi.org/10.3390/life13112215 - 16 Nov 2023
Viewed by 1069
Abstract
Chronic kidney disease (CKD) emerges as a substantial contributor to various cardiovascular disorders, including ischemic cardiomyopathy (ICM). However, the underlying molecular mechanisms linking CKD and ICM remain elusive. Our study aims to unravel these connections by integrating publicly available bulk and single-cell RNA [...] Read more.
Chronic kidney disease (CKD) emerges as a substantial contributor to various cardiovascular disorders, including ischemic cardiomyopathy (ICM). However, the underlying molecular mechanisms linking CKD and ICM remain elusive. Our study aims to unravel these connections by integrating publicly available bulk and single-cell RNA sequencing (scRNA-seq) data. Expression profiles from two ICM datasets obtained from heart tissue and one CKD with Peripheral Blood Mononuclear Cell (CKD-PBMC) dataset were collected. We initiated by identifying shared differentially expressed genes (DEGs) between ICM and CKD. Subsequent functional enrichment analysis shed light on the mechanisms connecting CKD to ICM. Machine learning algorithms enabled the identification of 13 candidate genes, including AGRN, COL16A1, COL1A2, FAP, FRZB, GPX3, ITIH5, NFASC, PTN, SLC38A1, STARD7, THBS2, and VPS35. Their expression patterns in ICM were investigated via scRNA-seq data analysis. Notably, most of them were enriched in fibroblasts. COL16A1, COL1A2, PTN, and FAP were enriched in scar-formation fibroblasts, while GPX3 and THBS2 showed enrichment in angiogenesis fibroblasts. A Gaussian naïve Bayes model was developed for diagnosing CKD-related ICM, bolstered by SHapley Additive exPlanations interpretability and validated internally and externally. In conclusion, our investigation unveils the extracellular matrix’s role in CKD and ICM interplay, identifies 13 candidate genes, and showcases their expression patterns in ICM. We also constructed a diagnostic model using 13 gene features and presented an innovative approach for managing CKD-related ICM through serum-based diagnostic strategies. Full article
(This article belongs to the Special Issue Advances in Heart Disease)
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12 pages, 954 KiB  
Article
Aerobic Capacity in Adults with Congenital Heart Disease: More than VO2peak, a Follow-Up Study
by Kelly Ferri, Ignasi Gich, Myriam Guerra-Balic, Guillermo R. Oviedo, Maite Doñate, Mireia Parra, Bàrbara Carbonell-Prat, Laura Dos-Subirá and Ricard Serra-Grima
Life 2022, 12(12), 2118; https://doi.org/10.3390/life12122118 - 15 Dec 2022
Cited by 1 | Viewed by 913
Abstract
To control the development of people with congenital heart disease (CHD), it is important to follow their aerobic capacity (AC), especially when they exercise. This research aimed to study the progress of AC during a follow-up of adults with CHD. This is a [...] Read more.
To control the development of people with congenital heart disease (CHD), it is important to follow their aerobic capacity (AC), especially when they exercise. This research aimed to study the progress of AC during a follow-up of adults with CHD. This is a longitudinal study which involved 127 adults with a mean age of 33.8 (11.1) years (57.5% female; 75 moderate CHD and 52 complex CHD) who had undergone two cardiopulmonary exercise tests (CEPT) in at least one year between the first and the second test. The AC and exercise performance (EP) (duration of exercise time, velocity and percentage of grade) were assessed using a ramp protocol over a treadmill. In a mean of 4.5 (2.0) years of follow-up, there was a significant decrease in AC. The VO2peak at baseline was 27.8 (27.7) mL/kg/min (82.9% (20.3%) predicted) versus 26.6 (7.8) mL/kg/min (79.3% (20.8%) predicted) at the end of follow-up. This decline was independent of the body weight increase. There was no significant difference in HRpeak and EP among periods. These results suggest a sign of favorable evolution of adults with CHD. More research is needed to study different factors that could contribute to AC reduction. Full article
(This article belongs to the Special Issue Advances in Heart Disease)
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13 pages, 929 KiB  
Article
Impact of Pre-Existing History of Heart Failure on Patient Profile, Therapeutic Management, and Prognosis in Cardiogenic Shock: Insights from the FRENSHOCK Registry
by Guillaume Schurtz, Clément Delmas, Margaux Fenouillet, François Roubille, Etienne Puymirat, Laurent Bonello, Guillaume Leurent, Basile Verdier, Bruno Levy, Julien Ternacle, Brahim Harbaoui, Gerald Vanzetto, Nicolas Combaret, Benoît Lattuca, Cedric Bruel, Jeremy Bourenne, Vincent Labbé, Patrick Henry, Éric Bonnefoy-Cudraz, Nicolas Lamblin and Gilles Lemesleadd Show full author list remove Hide full author list
Life 2022, 12(11), 1844; https://doi.org/10.3390/life12111844 - 11 Nov 2022
Viewed by 1389
Abstract
There is a large heterogeneity among patients presenting with cardiogenic shock (CS). It is crucial to better apprehend this heterogeneity in order to adapt treatments and improve prognoses in these severe patients. Notably, the presence (or absence) of a pre-existing history of chronic [...] Read more.
There is a large heterogeneity among patients presenting with cardiogenic shock (CS). It is crucial to better apprehend this heterogeneity in order to adapt treatments and improve prognoses in these severe patients. Notably, the presence (or absence) of a pre-existing history of chronic heart failure (CHF) at time of CS onset may be a significant part of this heterogeneity, and data focusing on this aspect are lacking. We aimed to compare CS patients with new-onset HF to those with worsening CHF in the multicenter FRENSHOCK registry. Altogether, 772 CS patients were prospectively included: 433 with a previous history of CHF and 339 without. Worsening CHF patients were older (68 +/− 13.4 vs. 62.7 +/− 16.2, p < 0.001) and had a greater burden of extra-cardiac comorbidities. At admission, acute myocardial infarction was predominantly observed in the new-onset HF group (49.9% vs. 25.6%, p < 0.001). When focusing on hemodynamic parameters, worsening CHF patients showed more congestion and higher ventricular filling pressures. Worsening CHF patients experienced higher in-hospital all-cause mortality (31.3% vs. 24.2%, p = 0.029). Our results emphasize the great heterogeneity of the patients presenting with CS. Worsening CHF patients had higher risk profiles, and this translated to a 30% increase in in-hospital all-cause mortality. The heterogeneity of this population prompts us to better determine the phenotype of CS patients to adapt their management. Full article
(This article belongs to the Special Issue Advances in Heart Disease)
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10 pages, 678 KiB  
Article
Prognostic Factors of In-Hospital Mortality in Patients with Acute Myocardial Infarction Complicated by Cardiogenic Shock
by Takanori Sato, Yuichi Saito, Sakuramaru Suzuki, Tadahiro Matsumoto, Daichi Yamashita, Kan Saito, Shinichi Wakabayashi, Hideki Kitahara, Koichi Sano and Yoshio Kobayashi
Life 2022, 12(10), 1672; https://doi.org/10.3390/life12101672 - 21 Oct 2022
Cited by 5 | Viewed by 1491
Abstract
Among patients with acute myocardial infarction (MI) complicated by cardiogenic shock (CS), in-hospital mortality remains high. In the present study, we aimed to identify factors associated with clinical outcomes of acute MI patients with CS in a contemporary setting. A total of 1102 [...] Read more.
Among patients with acute myocardial infarction (MI) complicated by cardiogenic shock (CS), in-hospital mortality remains high. In the present study, we aimed to identify factors associated with clinical outcomes of acute MI patients with CS in a contemporary setting. A total of 1102 patients with acute MI undergoing primary percutaneous coronary intervention were included, among whom 196 (17.8%) were complicated by CS. The primary outcome was all-cause death during hospitalization, and factors associated with in-hospital mortality were explored in patients with acute MI and CS. Of the 196 patients with acute MI complicated by CS, 77 (39.3%) died during hospitalization. The rates of non-ST-segment elevation MI (NSTEMI) (33.8% vs. 19.3%, p = 0.02) and culprit lesion in the left main or left anterior descending coronary artery (68.8% vs. 47.9%, p = 0.004) were higher, while left ventricular ejection fraction (LVEF) was lower (24.4 ± 11.7% vs. 39.7 ± 13.8%, p < 0.001) in non-survivors than in survivors. Multivariable analysis identified NSTEMI presentation and lower LVEF as independent predictors of in-hospital death. In conclusion, NSTEMI and low LVEF were identified as factors associated with higher in-hospital mortality. The identification of even higher-risk subsets and targeted therapeutic strategies may be warranted to improve survival of patients with acute MI and CS. Full article
(This article belongs to the Special Issue Advances in Heart Disease)
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9 pages, 1064 KiB  
Article
Different Phenotypes in Monozygotic Twins, Carriers of the Same Pathogenic Variant for Hypertrophic Cardiomyopathy
by Manuel Rodríguez Junquera, María Salgado, Francisco González-Urbistondo, Alberto Alén, José Julián Rodríguez-Reguero, Iria Silva, Eliecer Coto, Pablo Avanzas, César Morís, Juan Gómez and Rebeca Lorca
Life 2022, 12(9), 1346; https://doi.org/10.3390/life12091346 - 30 Aug 2022
Cited by 2 | Viewed by 1789
Abstract
Hypertrophic cardiomyopathy (HCM) is a monogenic disease with autosomal dominant inheritance. Genotype–phenotype relationships are complex, with variable penetrance even within the same family. The involvement of other modulating genetic and environmental factors is unknown. We aimed to analyze the HCM in monozygotic twins, [...] Read more.
Hypertrophic cardiomyopathy (HCM) is a monogenic disease with autosomal dominant inheritance. Genotype–phenotype relationships are complex, with variable penetrance even within the same family. The involvement of other modulating genetic and environmental factors is unknown. We aimed to analyze the HCM in monozygotic twins, carriers of the same founder pathogenic variant MYBPC3 p.G263*. The relationship was verified using the PowerPlex 16 HS System kit. Phenotypic differences and environmental differences (overloading conditions, coexistence and location, lifestyle, sport, and intensity) were analyzed. Three pairs of twins genetically identical for all markers and carriers of MYBPC3 G263* were identified. No environmental differences were identified. One of the 89-year-old twins had symptomatic severe obstructive HCM that required septal ablation, while her twin has remained asymptomatic with mild phenotype >80 years. A 49-year-old twin had a severe phenotype of obstructive HCM and pending myectomy, while his twin had a mild asymptomatic phenotype. In the last pair of twins, one presented a much larger left ventricular hypertrophy than his identical twin. In summary, we present three pairs of HCM twin patients sharing not only the genetic cause of the inherited disease but the entire genetic background. Despite identical genetic information and the absence of other known clinical, environmental, or lifestyle differences, the severity of the HCM phenotype is strikingly different. These unexplained differences should prompt the study of other unknown modulating factors, either epigenetic or environmental. Full article
(This article belongs to the Special Issue Advances in Heart Disease)
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11 pages, 387 KiB  
Article
Outcome after Prenatal Diagnosis of Trisomy 13, 18, and 21 in Fetuses with Congenital Heart Disease
by Stephanie Springer, Eva Karner, Christof Worda, Maria Magdalena Grabner, Elisabeth Seidl-Mlczoch, Franco Laccone, Jürgen Neesen, Anke Scharrer and Barbara Ulm
Life 2022, 12(8), 1223; https://doi.org/10.3390/life12081223 - 12 Aug 2022
Cited by 2 | Viewed by 2107
Abstract
Fetal congenital heart disease (CHD) is often associated with chromosomal abnormalities. Our primary aim was to assess stillbirth and neonatal mortality rates for pregnancies complicated by trisomies 13, 18, and 21 in the presence of CHD, from a single tertiary referral center during [...] Read more.
Fetal congenital heart disease (CHD) is often associated with chromosomal abnormalities. Our primary aim was to assess stillbirth and neonatal mortality rates for pregnancies complicated by trisomies 13, 18, and 21 in the presence of CHD, from a single tertiary referral center during 2000–2020 in a retrospective cohort study. The secondary aims were to investigate maternal morbidity in these pregnancies, and to study the gestational or neonatal age when mortality occurred. Inclusion criteria were the prenatal diagnosis of at least one structural CHD, together with prenatally diagnosed fetal trisomy 13, 18, or 21. One-hundred and sixty patients with fetal trisomy 13 (14.4%), fetal trisomy 18 (28.8%), and fetal trisomy 21 (56.9%) were evaluated. In total, 98 (61.3%) families opted for the termination of pregnancy (TOP). Of the remaining 62 (38.8%) pregnancies, 16 (25.8%) resulted in intrauterine fetal death/death during delivery. Ten out of twenty-one (47.6%) infants with trisomy 13 or 18 were born alive. The livebirth rate was 87.8% (36/41) for infants with trisomy 21. Early neonatal death was observed in nine (19.6%) infants. Thirty-one (86.1%) infants with trisomy 21 survived the first year of life. These data may be helpful for counseling affected parents when the decision to terminate or continue the pregnancy should be considered. Full article
(This article belongs to the Special Issue Advances in Heart Disease)
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10 pages, 603 KiB  
Article
Association of the Genetic Variation in the Long Non-Coding RNA FENDRR with the Risk of Developing Hypertrophic Cardiomyopathy
by Elías Cuesta-Llavona, Rebeca Lorca, Valeria Rolle, Belén Alonso, Sara Iglesias, Julian Rodríguez-Reguero, Israel David Duarte-Herrera, Sergio Pérez-Oliveira, Alejandro Junco-Vicente, Claudia García Lago, Eliecer Coto and Juan Gómez
Life 2022, 12(6), 818; https://doi.org/10.3390/life12060818 - 30 May 2022
Cited by 4 | Viewed by 1522
Abstract
Background: In around 40–60% of Hypertrophic Cardiomyopathy (HCM) cases pathogenic variants are not identified. Our aim was to evaluate the possible association of lncRNAs with the risk of developing HCM. Methods: We sequenced 10 lncRNAs coding genes that have been associated with cardiovascular [...] Read more.
Background: In around 40–60% of Hypertrophic Cardiomyopathy (HCM) cases pathogenic variants are not identified. Our aim was to evaluate the possible association of lncRNAs with the risk of developing HCM. Methods: We sequenced 10 lncRNAs coding genes that have been associated with cardiovascular disease in a discovery cohort (238 HCM patients and 212 controls) by NGS, and genotyped rs74035787 G>A and rs1424019 A>G polymorphism in a validation cohort (962 HCM patients and 923 controls). Finally, we sequenced the FENDRR promoter by Sanger sequencing. Results: We observed by NGS that FENDRR rs39527, rs39529 and rs40384 polymorphisms were significantly associated with HCM in our cohort (p = 0.0284; OR: 0.24, 95%CI: 0.07–0.86). NGS results were confirmed by genotyping rs74035787 polymorphism (p = 0.001; OR:0.38, 95%CI: 0.21–0.66). Moreover, it is also associated when stratification by sex (p = 0.003; OR:0.20, 95%CI: 0.06–0.53), and age (≥50 years old p = 0.001, OR:0.33, 95%CI: 0.16–0.63) Moreover, the risk of HCM in the carriers of the GG genotype of the rs1424019 polymorphism was significantly higher than that of the AA/AG genotypes carriers in the elderly subjects (p = 0.045, OR:1.24, 95%CI: 1.01–1.53). On the other hand, we observed significant differences in the rs74035787 A/rs1424019 G haplotype frequency (p = 0.0035; OR: 0.20, 95%CI: 0.07–0.59). Conclusions: Our study suggested a significant association between FENDRR gene variants and HCM. Full article
(This article belongs to the Special Issue Advances in Heart Disease)
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11 pages, 1487 KiB  
Article
KCNH2 p.Gly262AlafsTer98: A New Threatening Variant Associated with Long QT Syndrome in a Spanish Cohort
by Rebeca Lorca, Alejandro Junco-Vicente, Alicia Pérez-Pérez, Isaac Pascual, Yvan Rafael Persia-Paulino, Francisco González-Urbistondo, Elías Cuesta-Llavona, Bárbara C. Fernández-Barrio, César Morís, José Manuel Rubín, Eliecer Coto, Juan Gómez and José Julián Rodríguez Reguero
Life 2022, 12(4), 556; https://doi.org/10.3390/life12040556 - 08 Apr 2022
Cited by 7 | Viewed by 1821
Abstract
Long QT syndrome (LQTS) is an inherited (autosomal dominant) channelopathy associated with susceptibility to ventricular arrhythmias due to malfunction of ion channels in cardiomyocytes, that could lead to sudden death (SD). Most pathogenic variants are in the main 3 genes: KCNQ1 (LQT1), [...] Read more.
Long QT syndrome (LQTS) is an inherited (autosomal dominant) channelopathy associated with susceptibility to ventricular arrhythmias due to malfunction of ion channels in cardiomyocytes, that could lead to sudden death (SD). Most pathogenic variants are in the main 3 genes: KCNQ1 (LQT1), KCNH2 (LQT2) and SCN5A (LQT3). Efforts to improve the understanding of the genotype-phenotype relationship are essential to improve the medical clinical practice. In this study, we identified all index patients referred for NGS genetic sequencing due to LQTS, in a Spanish cohort, who were carriers of a new pathogenic variant (KCNH2 p.Gly262AlafsTer98). Genetic and clinical family screening was performed in order to describe its phenotypic characteristics. We identified 22 relatives of Romani ethnicity, who were carriers of the variant. Penetrance reached a 100% and adherence to medical treatment was low. There was a high rate of clinical events, particularly arrhythmic events and SD (1 in every 4 patients presented syncope, 1 presented an aborted SD, 2 obligated carriers suffered SD before the age of 40 and 4 out of 6 carriers of an implantable cardioverter-defibrillator (ICD) had appropriate ICD therapies. Correct adherence to medical treatment in all carriers should be specially encouraged in this population. ICD implantation decision in non-compliant patients, and refusing left cardiac sympathetic denervation, should be carefully outweighed. Full article
(This article belongs to the Special Issue Advances in Heart Disease)
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Review

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25 pages, 2235 KiB  
Review
Keep the Right in Mind—A Focused Approach to Right Ventricle-Predominant Cardiogenic Shock
by Viana Jacquline Copeland, Alexander Fardman and Ariel Furer
Life 2023, 13(2), 379; https://doi.org/10.3390/life13020379 - 30 Jan 2023
Viewed by 6445
Abstract
Cardiogenic shock (CS) remains a highly lethal condition despite many efforts and new interventions. Patients presenting with a rapid onset of hemodynamic instability and subsequent collapse require prompt and appropriate multimodality treatment. Multiple etiologies can lead to heart failure and subsequent shock. As [...] Read more.
Cardiogenic shock (CS) remains a highly lethal condition despite many efforts and new interventions. Patients presenting with a rapid onset of hemodynamic instability and subsequent collapse require prompt and appropriate multimodality treatment. Multiple etiologies can lead to heart failure and subsequent shock. As the case prevalence of heart failure increases worldwide, it is of great importance to explore all manners and protocols of presentation and treatment present. With research primarily focusing on CS due to cardiac left-sided pathology, few assessments of right-sided pathology and the subsequent clinical state and treatment have been conducted. This review aims to present an in-depth assessment of the currently available literature, assessing the pathophysiology, presentation and management of CS patients due to right heart failure. Full article
(This article belongs to the Special Issue Advances in Heart Disease)
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10 pages, 3310 KiB  
Review
Intrafamilial Phenotypical Variability Linked to PRKAG2 Mutation—Family Case Report and Review of the Literature
by Andreea Sorina Marcu, Radu Vătăşescu, Sebastian Onciul, Viorica Rădoi and Ruxandra Jurcuţ
Life 2022, 12(12), 2136; https://doi.org/10.3390/life12122136 - 18 Dec 2022
Viewed by 2063
Abstract
PRKAG2 syndrome (PS) is a rare, early-onset autosomal dominant phenocopy of sarcomeric hypertrophic cardiomyopathy (HCM), that mainly presents with ventricular pre-excitation, cardiac hypertrophy and progressive conduction system degeneration. Its natural course, treatment and prognosis are significantly different from sarcomeric HCM. The clinical phenotypes [...] Read more.
PRKAG2 syndrome (PS) is a rare, early-onset autosomal dominant phenocopy of sarcomeric hypertrophic cardiomyopathy (HCM), that mainly presents with ventricular pre-excitation, cardiac hypertrophy and progressive conduction system degeneration. Its natural course, treatment and prognosis are significantly different from sarcomeric HCM. The clinical phenotypes of PRKAG2 syndrome often overlap with HCM due to sarcomere protein mutations, causing this condition to be frequently misdiagnosed. The syndrome is caused by mutations in the gene encoding for the γ2 regulatory subunit (PRKAG2) of 5′ Adenosine Monophosphate-Activated Protein Kinase (AMPK), an enzyme that modulates glucose uptake and glycolysis. PRKAG2 mutations (OMIM#602743) are responsible for structural changes of AMPK, leading to an impaired myocyte glucidic uptake, and finally causing storage cardiomyopathy. We describe the clinical and investigative findings in a family with several affected members (NM_016203.4:c.905G>A or p.(Arg302Gln), heterozygous), highlighting the various phenotypes even in the same family, and the utility of genetic testing in diagnosing PS. The particularity of this family case is represented by the fact that the index patient was diagnosed at age 16 with cardiac hypertrophy and ventricular pre-excitation while his mother, by age 42, only had Wolff–Parkinson–White syndrome, without left ventricle hypertrophy. Both the grandmother and the great-grandmother underwent pacemaker implantation at a young age because of conduction abnormalities. Making the distinction between PS and sarcomeric HCM is actionable, given the early-onset of the disease, the numerous life-threatening consequences and the high rate of conduction disorders. In patients who exhibit cardiac hypertrophy coexisting with ventricular pre-excitation, genetic screening for PRKAG2 mutations should be considered. Full article
(This article belongs to the Special Issue Advances in Heart Disease)
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19 pages, 3222 KiB  
Review
A Holistic View of Advanced Heart Failure
by Filippos Triposkiadis, Grigorios Giamouzis, Takeshi Kitai, John Skoularigis, Randall C. Starling and Andrew Xanthopoulos
Life 2022, 12(9), 1298; https://doi.org/10.3390/life12091298 - 24 Aug 2022
Cited by 3 | Viewed by 1940
Abstract
Advanced heart failure (HF) may occur at any level of left ventricular (LV) ejection fraction (LVEF). The latter, which is widely utilized for the evaluation of LV systolic performance and treatment guidance of HF patients, is heavily influenced by LV size and geometry. [...] Read more.
Advanced heart failure (HF) may occur at any level of left ventricular (LV) ejection fraction (LVEF). The latter, which is widely utilized for the evaluation of LV systolic performance and treatment guidance of HF patients, is heavily influenced by LV size and geometry. As the accurate evaluation of ventricular systolic function and size is crucial in patients with advanced HF, the LVEF should be supplemented or even replaced by more specific indices of LV function such as the systolic strain and cardiac power output and size such as the LV diastolic diameters and volumes. Conventional treatment (cause eradication, medications, devices) is often poorly tolerated and fails and advanced treatment (mechanical circulatory support [MCS], heart transplantation [HTx]) is required. The effectiveness of MCS is heavily dependent on heart size, whereas HTx which is effective in the vast majority of the cases is limited by the small donor pool. Expanding the MCS indications to include patients with small ventricles as well as the HTx donor pool are major challenges in the management of advanced HF. Full article
(This article belongs to the Special Issue Advances in Heart Disease)
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12 pages, 272 KiB  
Review
Home Cardiorespiratory Monitoring in Infants at Risk for Sudden Infant Death Syndrome (SIDS), Apparent Life-Threatening Event (ALTE) or Brief Resolved Unexplained Event (BRUE)
by Chiara Sodini, Letizia Paglialonga, Giulia Antoniol, Serafina Perrone, Nicola Principi and Susanna Esposito
Life 2022, 12(6), 883; https://doi.org/10.3390/life12060883 - 13 Jun 2022
Cited by 3 | Viewed by 2798
Abstract
Sudden infant death syndrome (SIDS) is defined as the sudden death of an infant younger than one year of age which remains unexplained after a thorough case investigation, including performance of a complete autopsy, examination of the death scene, and review of the [...] Read more.
Sudden infant death syndrome (SIDS) is defined as the sudden death of an infant younger than one year of age which remains unexplained after a thorough case investigation, including performance of a complete autopsy, examination of the death scene, and review of the clinical history. About 90% of SIDS occur before six months of age, the peak incidence is between two and four months, and the median age for death is elven weeks. The clinical, social, and economic relevance of SIDS, together with the evidence that prevention of this syndrome was possible, has significantly stimulated research into risk factors for the development of SIDS in the hope of being able to introduce new effective preventive measures. This narrative review discusses the potential relationships between apparent life-threatening events (ALTE) or brief resolved unexplained events (BRUE) and SIDS development, and when a home cardiorespiratory monitor is useful for prevention of these conditions. A literature analysis showed that home cardiorespiratory monitoring has been considered a potential method to identify not only ALTE and BRUE but SIDS also. ALTE and BRUE are generally due to underlying conditions that are not detectable in SIDS infants. A true relationship between these conditions has never been demonstrated. Use of home cardiorespiratory monitor is not recommended for SIDS, whereas it could be suggested for children with previous ALTE or severe BRUE or who are at risk of the development of these conditions. However, use of home cardiorespiratory monitors assumes that family members know the advantages and limitations of these devices after adequate education and instruction in their use. Full article
(This article belongs to the Special Issue Advances in Heart Disease)

Other

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16 pages, 2026 KiB  
Systematic Review
Microaxial Left Ventricular Assist Device in Cardiogenic Shock: A Systematic Review and Meta-Analysis
by Shien Ru Tan, Christopher Jer Wei Low, Wei Lin Ng, Ryan Ruiyang Ling, Chuen Seng Tan, Shir Lynn Lim, Robin Cherian, Weiqin Lin, Kiran Shekar, Saikat Mitra, Graeme MacLaren and Kollengode Ramanathan
Life 2022, 12(10), 1629; https://doi.org/10.3390/life12101629 - 18 Oct 2022
Cited by 2 | Viewed by 2677
Abstract
Microaxial left ventricular assist devices (LVAD) are increasingly used to support patients with cardiogenic shock; however, outcome results are limited to single-center studies, registry data and select reviews. We conducted a systematic review and meta-analysis, searching three databases for relevant studies reporting on [...] Read more.
Microaxial left ventricular assist devices (LVAD) are increasingly used to support patients with cardiogenic shock; however, outcome results are limited to single-center studies, registry data and select reviews. We conducted a systematic review and meta-analysis, searching three databases for relevant studies reporting on microaxial LVAD use in adults with cardiogenic shock. We conducted a random-effects meta-analysis (DerSimonian and Laird) based on short-term mortality (primary outcome), long-term mortality and device complications (secondary outcomes). We assessed the risk of bias and certainty of evidence using the Joanna Briggs Institute and the GRADE approaches, respectively. A total of 63 observational studies (3896 patients), 6 propensity-score matched (PSM) studies and 2 randomized controlled trials (RCTs) were included (384 patients). The pooled short-term mortality from observational studies was 46.5% (95%-CI: 42.7–50.3%); this was 48.9% (95%-CI: 43.8–54.1%) amongst PSM studies and RCTs. The pooled mortality at 90 days, 6 months and 1 year was 41.8%, 51.1% and 54.3%, respectively. Hemolysis and access-site bleeding were the most common complications, each with a pooled incidence of around 20%. The reported mortality rate of microaxial LVADs was not significantly lower than extracorporeal membrane oxygenation (ECMO) or intra-aortic balloon pumps (IABP). Current evidence does not suggest any mortality benefit when compared to ECMO or IABP. Full article
(This article belongs to the Special Issue Advances in Heart Disease)
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12 pages, 3407 KiB  
Case Report
Homozygous Pro1066Arg MYBPC3 Pathogenic Variant in a 26Mb Region of Homozygosity Associated with Severe Hypertrophic Cardiomyopathy in a Patient of an Apparent Non-Consanguineous Family
by Raquel Rodríguez-López, Javier García-Planells, Marina Martínez-Matilla, Cristian Pérez-García, Amor García Banacloy, Carola Guzmán Luján, Otilia Zomeño Alcalá, Joaquina Belchi Navarro, Juan Martínez-León and Rafael Salguero-Bodes
Life 2022, 12(7), 1035; https://doi.org/10.3390/life12071035 - 12 Jul 2022
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Abstract
MYPBC3 and MYH7 are the most frequently mutated genes in patients with hereditary HCM. Homozygous and compound heterozygous genotypes generate the most severe phenotypes. A 35-year-old woman who was a homozygous carrier of the p.(Pro1066Arg) variant in the MYBPC3 gene, developed HCM phenocopy [...] Read more.
MYPBC3 and MYH7 are the most frequently mutated genes in patients with hereditary HCM. Homozygous and compound heterozygous genotypes generate the most severe phenotypes. A 35-year-old woman who was a homozygous carrier of the p.(Pro1066Arg) variant in the MYBPC3 gene, developed HCM phenocopy associated with left ventricular noncompaction and various degrees of conduction disease. Her father, a double heterozygote for this variant in MYBPC3 combined with the variant p.(Gly1931Cys) in the MYH7 gene, was affected by HCM. The variant in MYBPC3 in the heterozygosis-produced phenotype was neither in the mother nor in her only sister. Familial segregation analysis showed that the homozygous genotype p.(Pro1066Arg) was located in a region of 26 Mb loss of heterozygosity due to some consanguinity in the parents. These findings describe the pathogenicity of this variant, supporting the hypothesis of cumulative variants in cardiomyopathies, as well as the modulatory effect of the phenotype by other genes such as MYH7. Advancing HPO phenotyping promoted by the Human Phenotype Ontology, the gene–disease correlation, and vice versa, is evidence for the phenotypic heterogeneity of familial heart disease. The progressive establishment of phenotypic characteristics over time also complicates the clinical description. Full article
(This article belongs to the Special Issue Advances in Heart Disease)
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