Related Experiment Video
Updated: May 9, 2026
07:15
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Genetic testing for inherited cardiac disease
Arthur A M Wilde1, Elijah R Behr
1Department of Clinical and Experimental Cardiology, Academic Medical Center, University of Amsterdam, PO Box 22700, 1100DE Amsterdam, Netherlands.
Nature Reviews. Cardiology
|August 1, 2013
Summary
Genetic research has advanced the understanding of inherited cardiac diseases like channelopathies and cardiomyopathies. Accurate interpretation of genetic testing results, especially with new sequencing technologies, remains a key challenge for diagnosis and patient management.
Area of Science:
- Cardiovascular Genetics
- Molecular Cardiology
- Genetics of Sudden Cardiac Death
Background:
- Inherited cardiac diseases (ICDs) predispose individuals to sudden cardiac death.
- Significant progress has been made in understanding the pathophysiology of ICDs over the last two decades.
- Key areas of focus include cardiac channelopathies and cardiomyopathies.
Purpose of the Study:
- To review the current state of gene discovery in inherited cardiac diseases.
- To examine genotype-phenotype correlations in cardiac channelopathies and cardiomyopathies.
- To assess the clinical utility of genetic testing for diagnosis, management, and prognosis.
Main Methods:
- Review of current literature on gene discovery in inherited cardiac diseases.
- Analysis of genotype-phenotype associations in cardiac channelopathies and cardiomyopathies.
- Evaluation of indications and clinical utility of genetic testing.
Main Results:
- Gene discovery has elucidated the genetic basis of many inherited cardiac diseases.
- Genetic testing aids in diagnosis, cascade testing, guiding management, and prognosis.
- Challenges include variable penetrance, expressivity, and interpreting novel mutations.
Conclusions:
- Interpreting genetic test results accurately is crucial, especially with advancing next-generation sequencing technologies.
- Understanding genotype-phenotype relationships is key to managing inherited cardiac diseases.
- Future efforts must address challenges in variant interpretation for improved clinical application.
Related Concept Videos
01:29Cardiomyopathy III: Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
01:30Dysrhythmias V: Evaluating Dysrhythmias
Dysrhythmias, also known as arrhythmias, are disturbances in the heart's rhythm that range from benign to life-threatening. A thorough evaluation is crucial for appropriate management and involves a comprehensive medical history, physical examination, and various diagnostic tests.Medical HistorySymptoms: Collect detailed information on palpitations, dizziness, syncope, chest pain, and fatigue. Note their onset, frequency, and triggers.Previous Cardiac Issues: Document any history of heart...
01:28Cardiac Catheterization I: Pre-Procedure Overview
Cardiac catheterization is an invasive diagnostic technique used to identify and evaluate structural and functional diseases of the heart and major blood vessels. This technique diagnoses congenital heart disease, coronary artery disease, valvular heart disease, and coronary spasms and assesses ventricular function. It helps guide treatment decisions, including the need for revascularization procedures like percutaneous coronary intervention (PCI) or coronary artery bypass grafting (CABG) and...
01:22Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies
The key clinical manifestations of Rheumatic heart disease (RHD) include several distinct cardiac symptoms.Carditis, a hallmark of acute rheumatic fever, involves inflammation of the heart's endocardium, myocardium, and pericardium. Chronic RHD often results from recurrent episodes of carditis. Its symptoms include the following:Murmurs are caused by valvular damage, especially to the mitral and aortic valves. Mitral stenosis or regurgitation is common, with characteristic heart murmurs...
02:46Genetic Screens
Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
01:25Cardiomyopathy I: Introduction and Classification
Cardiomyopathy, or CMP, is a group of diseases affecting the myocardial structure, impairing its ability to pump blood effectively. This condition can lead to arrhythmias, heart failure, or sudden cardiac death.Cardiomyopathies are classified into primary and secondary categories:Primary Cardiomyopathy refers to conditions involving only the heart muscle that are often idiopathic (of unknown cause) or genetic. They primarily affect the myocardium without the involvement of other systemic...