Genetic Basis and Clinical Determinants of Inherited Heart Disease

A special issue of Journal of Personalized Medicine (ISSN 2075-4426). This special issue belongs to the section "Mechanisms of Diseases".

Deadline for manuscript submissions: closed (20 October 2021) | Viewed by 8083

Special Issue Editor


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Guest Editor
Department of Cardiology, Heart Center, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
Interests: cardiac arrest; congenital heart disease; cardiogenetics; genetics

Special Issue Information

Individuals with inherited heart disease may exhibit strongly varying disease severity, even within the same family, ranging from being asymptomatic and difficult to recognize carriers to suffering sudden death and/or heart failure at a young age. This variability may stem from genetic factors (modifier genes) and/or clinical factors (comorbidities, lifestyle risk factors, drug use), and it poses a challenge to designing personalized disease management, including risk stratification and personalized treatment.

The aim of this Special Issue of the Journal of Personalized Medicine is to outline recent trends, updates, and progress on how genetic factors and/or clinical factors may impact disease severity in individuals with inherited heart disease.

After the discovery of the various types of inherited heart disease, a monogenic disease model was initially adopted. However, it was soon recognized that such a model could not account for the great variability in disease severity. Additional models were developed, including polygenic risk models and risk scores composed of both genetic and clinical factors. The development of these models has been boosted by the creation of large datasets in international consortia and the increasing availability of affordable methods for large-scale genetic studies.

Multidimensional research is needed and being conducted to resolve the complexity of inherited heart diseases, including genetic, molecular, and clinical studies.

We are inviting the submission of original articles and review articles to this Special Issue that cover the whole spectrum of management of inherited heart disease, covering genetic, molecular, and clinical studies.

Dr. Hanno L. Tan
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. Journal of Personalized Medicine 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

  • Inherited heart disease
  • Cardiogenetics
  • Inherited arrhythmia syndrome
  • Long QT syndrome
  • Brugada syndrome
  • Cardiomyopathy
  • Genetics
  • Polygenic risk score
  • Risk prediction
  • Risk score

Published Papers (3 papers)

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Research

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10 pages, 669 KiB  
Article
Aetiology and 30-Year Long-Term Outcome of Children with Cardiomyopathy Necessitating Heart Transplantation
by Martin Zschirnt, Josef Thul, Hakan Akintürk, Klaus Valeske, Dietmar Schranz, Susanne Skrzypek, Matthias Müller, Christian Jux, Andreas Hahn and Stefan Rupp
J. Pers. Med. 2020, 10(4), 251; https://doi.org/10.3390/jpm10040251 - 27 Nov 2020
Cited by 5 | Viewed by 1822
Abstract
Studies assessing the long-term outcome after heart transplantation HTX in patients with cardiomyopathy (CM) in the paediatric age range are rare. The aim of this study was to determine the survival rate of children with CM undergoing HTX and to analyse how aetiology [...] Read more.
Studies assessing the long-term outcome after heart transplantation HTX in patients with cardiomyopathy (CM) in the paediatric age range are rare. The aim of this study was to determine the survival rate of children with CM undergoing HTX and to analyse how aetiology of cardiomyopathy influenced morbidity and mortality. We retrospectively analysed the medical records of children; who were transplanted in our centre between June 1988 and October 2019. 236 heart transplantations were performed since 1988 (9 re-transplants). 98 of 227 patients (43.2%) were transplanted because of CM. Survival rates were 93% after 1; 84% after 10 and 75% after 30 years. Overall; the aetiology of CM could be clearly identified in 37 subjects (37.7%). This rate increased up to 66.6% (12/19) by applying a comprehensive diagnostic workup since 2016. The survival rate was lower (p < 0.05) and neurocognitive deficits were more frequent (p = 0.001) in subjects with systemic diseases than in individuals with cardiac-specific conditions. These data indicate that the long-term survival rate of children with CM after HTX in experienced centers is high. A comprehensive diagnostic workup allows unraveling the basic defect in the majority of patients with CM undergoing HTX. Aetiology of CM affects morbidity and mortality in subjects necessitating HTX. Full article
(This article belongs to the Special Issue Genetic Basis and Clinical Determinants of Inherited Heart Disease)
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Review

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17 pages, 743 KiB  
Review
Malignant Arrhythmogenic Role Associated with RBM20: A Comprehensive Interpretation Focused on a Personalized Approach
by Paloma Jordà, Rocío Toro, Carles Diez, Joel Salazar-Mendiguchía, Anna Fernandez-Falgueras, Alexandra Perez-Serra, Monica Coll, Marta Puigmulé, Elena Arbelo, Ana García-Álvarez, Georgia Sarquella-Brugada, Sergi Cesar, Coloma Tiron, Anna Iglesias, Josep Brugada, Ramon Brugada and Oscar Campuzano
J. Pers. Med. 2021, 11(2), 130; https://doi.org/10.3390/jpm11020130 - 15 Feb 2021
Cited by 4 | Viewed by 3209
Abstract
The RBM20 gene encodes the muscle-specific splicing factor RNA-binding motif 20, a regulator of heart-specific alternative splicing. Nearly 40 potentially deleterious variants in RBM20 have been reported in the last ten years, being found to be associated with highly arrhythmogenic events in familial [...] Read more.
The RBM20 gene encodes the muscle-specific splicing factor RNA-binding motif 20, a regulator of heart-specific alternative splicing. Nearly 40 potentially deleterious variants in RBM20 have been reported in the last ten years, being found to be associated with highly arrhythmogenic events in familial dilated cardiomyopathy. Frequently, malignant arrhythmias can be a primary manifestation of disease. The early recognition of arrhythmic genotypes is crucial in avoiding lethal episodes, as it may have an impact on the adoption of personalized preventive measures. Our study performs a comprehensive update of data concerning rare variants in RBM20 that are associated with malignant arrhythmogenic phenotypes with a focus on personalized medicine. Full article
(This article belongs to the Special Issue Genetic Basis and Clinical Determinants of Inherited Heart Disease)
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18 pages, 288 KiB  
Review
Genetic Risk Score for Coronary Heart Disease: Review
by Sergey Semaev and Elena Shakhtshneider
J. Pers. Med. 2020, 10(4), 239; https://doi.org/10.3390/jpm10040239 - 20 Nov 2020
Cited by 6 | Viewed by 2553
Abstract
The present review deals with the stages of creation, methods of calculation, and the use of a genetic risk score for coronary heart disease in various populations. The concept of risk factors is generally recognized on the basis of the results of epidemiological [...] Read more.
The present review deals with the stages of creation, methods of calculation, and the use of a genetic risk score for coronary heart disease in various populations. The concept of risk factors is generally recognized on the basis of the results of epidemiological studies in the 20th century; according to this concept, the high prevalence of diseases of the circulatory system is due to lifestyle characteristics and associated risk factors. An important and relevant task for the healthcare system is to identify the population segments most susceptible to cardiovascular diseases (CVDs). The level of individual risk of an unfavorable cardiovascular prognosis is determined by genetic factors in addition to lifestyle factors. Full article
(This article belongs to the Special Issue Genetic Basis and Clinical Determinants of Inherited Heart Disease)
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