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Cardiac Genetics and Epigenetics
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Cardiac Genetics and Epigenetics

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: closed (25 April 2022) | Viewed by 14527

Special Issue Editors

Dr. Damián Heine Súñer

E-Mail Website
Guest Editor
Section of Genetics, Hospital Son Espases, Palma, Spain
Interests: CHDs; 22q11DS; CVD epigenetics; CVD genetics; animal models of CVDs; genomics of complex diseases; NGS for diagnostics of CVDs
Dr. Tomás Ripoll-Vera

E-Mail Website
Guest Editor
Cardiology Service, Hospital Universitario Son Llàtzer, Palma, Spain
Interests: cardiomyopathies; channelopathies; sudden death; amyloidosis; genotype; phenotype; genetic testing; heart failure

Special Issue Information

Dear Colleagues,

Cardiovascular disease (CVD) refers to conditions ranging from myocardial infarction to congenital heart disease (CHD) and from cardiomyopathies to arrhythmias. The aetiopathogenesis of CVDs has been suggested to be multifactorial, including low-penetrance susceptibility variants frequent in the population (polymorphisms) and rare variants with intermediate/high penetrance (mutations) together with environmental exposures and epigenetic modifications (epimutations).

Congenital heart defects (CHDs) are structural heart abnormalities that arise during fetal life, with an impact in Europe of about 1/100 births. Patients with CHDs develop heart failure (HF) 10 times more frequently than the general population; this trend cannot be explained by only considering hemodynamic perturbations, thereby pointing toward CHDs as a model for studying HF.

Cardiomyopathies represent an important cause of heart failure, often affecting young individuals and with important implications for relatives. Genetic testing of cardiomyopathies is an established care pathway in contemporary cardiology practice and aids in the diagnosis, prognosis, and ability to screen relatives.

Inherited arrhythmia syndromes are a group of disorders characterised by an increased risk of sudden cardiac death, abnormal cardiac electrical function and, typically, a structurally normal heart. They share an underlying genetic aetiology, where disease-causing genetic variants may lead to absence or dysfunction of proteins involved in the generation and propagation of the cardiac action potential.

This Special Issue will put its focus on reviews and original research on the genetics and epigenetics of CVDs (CHDs, cardiomyopathies, and arrythmias) with a special emphasis on HF in the context of CHDs, amyloid cardiomyopathies, clinical cases of relevance in cardiogenetics, and epigenetic factors contributing to CVD.

Dr. Damián Heine Súñer
Dr. Tomás Ripoll-Vera
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. Genes 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

  • CHDs
  • 22q11DS
  • CVD epigenetics
  • CVD genetics
  • animal models for CVD
  • genomics of complex diseases
  • NGS for diagnostics of CVDs
  • cardiomyopathies
  • channelopathies
  • sudden death
  • amyloidosis
  • genetic testing
  • heart failure

Published Papers (6 papers)

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Research

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10 pages, 6123 KiB  
Article
New Variant in Placophilin-2 Gene Causing Arrhythmogenic Myocardiopathy
by Fiama Caimi-Martinez, Guido Antoniutti, Rocio Blanco, Bernardo García de la Villa, Nelson Alvarenga, Nancy Govea-Callizo, Laura Torres-Juan, Damián Heine-Suñer, Jordi Rosell-Andreo, David Crémer Luengos, Jorge Alvarez-Rubio and Tomás Ripoll-Vera
Genes 2022, 13(5), 782; https://doi.org/10.3390/genes13050782 - 27 Apr 2022
Cited by 1 | Viewed by 2063
Abstract
Introduction: Arrhythmogenic cardiomyopathy (ACM) is an inherited disease characterized by progressive fibroadipose replacement of cardiomyocytes. Its diagnosis is based on imaging, electrocardiographic, histological and genetic/familial criteria. The development of the disease is based mainly on desmosomal genes. Knowledge of the phenotypic expression of [...] Read more.
Introduction: Arrhythmogenic cardiomyopathy (ACM) is an inherited disease characterized by progressive fibroadipose replacement of cardiomyocytes. Its diagnosis is based on imaging, electrocardiographic, histological and genetic/familial criteria. The development of the disease is based mainly on desmosomal genes. Knowledge of the phenotypic expression of each of these genes will help in both diagnosis and prognosis. The objective of this study is to describe the genotype–phenotype association of an unknown PKP2 gene variant in a family diagnosed with ACM. Methods: Clinical and genetic study of a big family carrying the p.Tyr168* variant in the PKP2 gene, in order to demonstrate pathogenicity of this variant, causing ACM. Results: Twenty-two patients (proband and relatives) were evaluated. This variant presented with high arrhythmic load at an early age, but without evidence of structural heart disease after 20 years of follow-up, with low risk in predictive scores. We demonstrate evidence of its pathogenicity. Conclusions: The p.Tyr168* variant in the PKP2 gene causes ACM with a high arrhythmic load and with an absence of structural heart disease. This fact emphasizes the value of knowing the phenotypic expression of each variant. Full article
(This article belongs to the Special Issue Cardiac Genetics and Epigenetics)
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13 pages, 927 KiB  
Article
Genotype-Phenotype Correlation in Hypertrophic Cardiomyopathy: New Variant p.Arg652Lys in MYH7
by Guido Antoniutti, Fiama Giuliana Caimi-Martinez, Jorge Álvarez-Rubio, Paula Morlanes-Gracia, Jaume Pons-Llinares, Blanca Rodríguez-Picón, Elena Fortuny-Frau, Laura Torres-Juan, Damian Heine-Suner and Tomas Ripoll-Vera
Genes 2022, 13(2), 320; https://doi.org/10.3390/genes13020320 - 9 Feb 2022
Cited by 2 | Viewed by 2182
Abstract
Hypertrophic cardiomyopathy (HCM) is a genetic disease characterised by increased left ventricle (LV) wall thickness caused by mutations in sarcomeric genes. Finding a causal mutation can help to better assess the proband’s risk, as it allows the presence of the mutation to be [...] Read more.
Hypertrophic cardiomyopathy (HCM) is a genetic disease characterised by increased left ventricle (LV) wall thickness caused by mutations in sarcomeric genes. Finding a causal mutation can help to better assess the proband’s risk, as it allows the presence of the mutation to be evaluated in relatives and the follow-up to be focused on carriers. We performed an observational study of patients with HCM due to the novel p.Arg652Lys variant in the MYH7 gene. Eight families and 59 patients are described in the follow-up for a median of 63 months, among whom 39 (66%) carry the variant. Twenty-five (64%) of carriers developed HCM. A median maximum LV wall thickness of 16.5 mm was described. The LV hypertrophy was asymmetric septal in 75% of cases, with LV outflow tract obstruction in 28%. The incidence of a composite of serious adverse cardiovascular events (sudden death, aborted sudden death, appropriate implantable cardiac defibrillator discharge, an embolic event, or admission for heart failure) was observed in five (20%) patients. Given the finding of the p.Arg652Lys variant in patients with HCM, but not in controls, with evident segregation in patients with HCM from eight families and the location in an active site of the protein, we can define this variant as likely pathogenic and associated with the development of HCM. Full article
(This article belongs to the Special Issue Cardiac Genetics and Epigenetics)
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7 pages, 738 KiB  
Article
Familial Dilated Cardiomyopathy and Sudden Cardiac Arrest: New Association with a SCN5A Mutation
by Yolanda Rico, Maria Francisca Ramis, Montse Massot, Laura Torres-Juan, Jaume Pons, Elena Fortuny, Tomas Ripoll-Vera, Rosa González, Vicente Peral, Xavier Rossello and Damià Heine Suñer
Genes 2021, 12(12), 1889; https://doi.org/10.3390/genes12121889 - 25 Nov 2021
Cited by 4 | Viewed by 2074
Abstract
Dilated cardiomyopathy (DCM) has significant morbidity and mortality. Familial transmission is reported in 20–35% of cases, highlighting the role of genetics in this disorder. We present an interesting family in which the index case is a 64-year-old woman who survived a sudden cardiac [...] Read more.
Dilated cardiomyopathy (DCM) has significant morbidity and mortality. Familial transmission is reported in 20–35% of cases, highlighting the role of genetics in this disorder. We present an interesting family in which the index case is a 64-year-old woman who survived a sudden cardiac arrest. She presented left ventricular dilatation and dysfunction, which indicated the presence of DCM, as well as a history of DCM and sudden arrest in her family (mother and sister). Genetic testing identified a heterozygous mutation c.74A > G missense change that causes an amino acid, p.Glu25Gly, change in the N-terminal domain of the SCN5A protein. After performing an exhaustive family medical history, we found that this previously not described mutation segregated within the family. All relatives with the DCM phenotype were carriers, whereas none of the noncarriers showed signs of heart disease, so this mutation is the most likely cause of the disease. This is the first time that a variant in the N-terminal domain of SCN5A has been associated with DCM. Full article
(This article belongs to the Special Issue Cardiac Genetics and Epigenetics)
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Review

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9 pages, 240 KiB  
Review
Consanguinity and Congenital Heart Disease Susceptibility: Insights into Rare Genetic Variations in Saudi Arabia
by Nour Albesher, Salam Massadeh, Sabah M. Hassan and Manal Alaamery
Genes 2022, 13(2), 354; https://doi.org/10.3390/genes13020354 - 16 Feb 2022
Cited by 7 | Viewed by 2955
Abstract
Congenital heart disease (CHD) encompasses a wide range of structural defects of the heart and, in many cases, the factors that predispose an individual to disease are not well understood, highlighting the remarkable complexity of CHD etiology. Evidence of familial aggregation of CHD [...] Read more.
Congenital heart disease (CHD) encompasses a wide range of structural defects of the heart and, in many cases, the factors that predispose an individual to disease are not well understood, highlighting the remarkable complexity of CHD etiology. Evidence of familial aggregation of CHD has been demonstrated in different communities and for different cardiac lesions. Consanguinity, particularly among first cousins, is an added risk factor for these families, particularly in societies where it is considered a common cultural practice, as confirmed in previous studies conducted in Saudi Arabia and other countries. Through comprehensive genetic testing of affected families, we have been able to better understand the genetic basis of the various cardiac lesions and to delineate the molecular mechanisms involved in cardiac morphogenesis. In this review, we discuss the epidemiology and genetics of CHD in consanguineous populations focusing on Saudi Arabia as an extensive study model to address current advances and challenges in the clinical genetic diagnosis and prevention of CHD. Full article
(This article belongs to the Special Issue Cardiac Genetics and Epigenetics)

Other

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11 pages, 3742 KiB  
Case Report
LMNA Mutation in a Family with a Strong History of Sudden Cardiac Death
by Laura Keil, Filip Berisha, Dorit Knappe, Christian Kubisch, Moneef Shoukier, Paulus Kirchhof, Larissa Fabritz, Yorck Hellenbroich, Rixa Woitschach and Christina Magnussen
Genes 2022, 13(2), 169; https://doi.org/10.3390/genes13020169 - 19 Jan 2022
Cited by 2 | Viewed by 2829
Abstract
We report a family with heterozygous deletion of exons 3–6 of the LMNA gene. The main presentation of affected family members was characterized by ventricular and supraventricular arrhythmias, atrioventricular (AV) block and sudden cardiac death (SCD) but also by severe dilative cardiomyopathy (DCM). [...] Read more.
We report a family with heterozygous deletion of exons 3–6 of the LMNA gene. The main presentation of affected family members was characterized by ventricular and supraventricular arrhythmias, atrioventricular (AV) block and sudden cardiac death (SCD) but also by severe dilative cardiomyopathy (DCM). We report on two siblings, a 36-year-old female and her 40-year-old brother, who suffer from heart failure with mildly reduced ejection fraction, AV conduction delays and premature ventricular complexes. Their 65-year-old mother underwent heart transplantation at the age of 55 due to advanced heart failure. Originally, the LMNA mutation was detected in one of the uncles. This index patient and three of his brothers died of SCD as well as their father and aunt. The two siblings were treated with implanted defibrillators in our specialized tertiary heart failure center. This case report places this specific genetic variant in the context of LMNA-associated familial DCM. Full article
(This article belongs to the Special Issue Cardiac Genetics and Epigenetics)
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5 pages, 2823 KiB  
Case Report
SARS-CoV-2 and Pre-Tamponade Pericardial Effusion. Could Sotos Syndrome Be a Major Risk Factor?
by Barbara Citoni, Maria Cristina Digilio, Rossella Capolino, Maria Giulia Gagliardi, Andrea Campana, Fabrizio Drago and Giulio Calcagni
Genes 2021, 12(11), 1782; https://doi.org/10.3390/genes12111782 - 10 Nov 2021
Cited by 3 | Viewed by 1449
Abstract
Pericarditis with pericardial effusion in SARS CoV-2 infection is a well-known entity in adults. In children and adolescents, only a few cases have been reported. Here, we present here a case of a 15-year-old girl affected by Sotos syndrome with pre-tamponed pericardial effusion [...] Read more.
Pericarditis with pericardial effusion in SARS CoV-2 infection is a well-known entity in adults. In children and adolescents, only a few cases have been reported. Here, we present here a case of a 15-year-old girl affected by Sotos syndrome with pre-tamponed pericardial effusion occurred during SARS-CoV-2 infection. A possible relation between SARS-CoV-2 pericarditis and genetic syndromes, as a major risk factor for the development of severe inflammation, has been speculated. We emphasize the importance of active surveillance by echocardiograms when SARS-CoV-2 infection occurs in combination with a genetic condition. Full article
(This article belongs to the Special Issue Cardiac Genetics and Epigenetics)
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