ArticleJournal of cardiovascular medicine (Hagerstown, Md.)2018
Contemporary genetic testing in inherited cardiac disease: tools, ethical issues, and clinical applications.
Article in Journal of cardiovascular medicine (Hagerstown, Md.), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 59 citations in OpenAlex.
- Family Leaders Navigate Burden to Communicate Risk during Cascade Screening after Sudden Cardiac Death in the Young.Public health genomics · 2026Article
- Evolution of the management of ultrarare inherited arrhythmias and cardiomyopathies.Future cardiology · 2025Article
- The Genetic Basis of Sudden Cardiac Death: From Diagnosis to Emerging Genetic Therapies.Annual review of medicine · 2025Review
- Pharmacogenomics revolutionizing cardiovascular therapeutics: A narrative review.Health science reports · 2024Article
- Diagnostic yield from cardiac gene testing for inherited cardiac conditions and re-evaluation of pre-ACMG variants of uncertain significance.Irish journal of medical science · 2024Article
- A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship.Genetics in medicine open · 2024Article
- The Australian Genetic Heart Disease Registry: Protocol for a Data Linkage Study.JMIR research protocols · 2023Article
- Article
- Genetic Testing and Counselling in Hypertrophic Cardiomyopathy: Frequently Asked Questions.Journal of clinical medicine · 2023Article
- Article
- Genomic findings of hypertrophic and dilated cardiomyopathy characterized in a Thai clinical genetics service.PloS one · 2022Article
- Molecular Genetic Techniques in Biomarker Analysis Relevant for Drugs Centrally Approved in Europe.Molecular diagnosis & therapy · 2022Review
- Multidisciplinary In-Depth Investigation in a Young Athlete Suffering from Syncope Caused by Myocardial Bridge.Diagnostics (Basel, Switzerland) · 2021Article
- "The ultimate risk:" How clinicians assess the value and meaning of genetic data in cardiology.Clinical ethics · 2021Article
- Molecular Epidemiology of Mitochondrial Cardiomyopathy: A Search Among Mitochondrial and Nuclear Genes.International journal of molecular sciences · 2021Review
- Novel Imaging and Genetic Risk Markers in Takotsubo Syndrome.Frontiers in cardiovascular medicine · 2021Review
- Dietary Thiols: A Potential Supporting Strategy against Oxidative Stress in Heart Failure and Muscular Damage during Sports Activity.International journal of environmental research and public health · 2020Review
- Shock to the Heart: Psychosocial Implications and Applications of Sudden Cardiac Death in the Young.Current cardiology reports · 2020Review
- Protein Thermodynamic Destabilization in the Assessment of Pathogenicity of a Variant of Uncertain Significance in Cardiac Myosin Binding Protein C.Journal of cardiovascular translational research · 2020Article
- The Hidden Fragility in the Heart of the Athletes: A Review of Genetic Biomarkers.International journal of molecular sciences · 2020Review
Corrections and comments
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Authors and funding
13 authors at 8 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
: Inherited cardiac diseases comprise a wide and heterogeneous spectrum of diseases of the heart, including the cardiomyopathies and the arrhythmic diseases in structurally normal hearts, that is, channelopathies. With a combined estimated prevalence of 3% in the general population, these conditions represent a relevant epidemiological entity worldwide, and are a major cause of cardiac morbidity and mortality in the young. The extraordinary progress achieved in molecular genetics over the last three decades has unveiled the complex molecular basis of many familial cardiac conditions, paving the way for routine use of gene testing in clinical practice. In current practice, genetic testing can be used in a clinically affected patient to confirm diagnosis, or to formulate a differential diagnosis among overlapping phenotypes or between hereditary and acquired (nongenetic) forms of disease. Although genotype-phenotype correlations are generally unpredictable, a precise molecular diagnosis can help predict prognosis in specific patient subsets and may guide management. In clinically unaffected relatives, genetic cascade testing is recommended, after the initial identification of a pathogenic variation, with the aim of identifying asymptomatic relatives who might be at risk of disease-related complications, including unexpected sudden cardiac death. Future implications include the identification of novel therapeutic targets and development of tailored treatments including gene therapy. This document reflects the multidisciplinary, 'real-world' experience required when implementing genetic testing in cardiomyopathies and arrhythmic syndromes, along the recommendations of various guidelines.
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Registered trials
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