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[Genetic Causes of Heart Failure in Adults]
Insights
Hereditary cardiomyopathies are genetic heart muscle disorders causing heart failure. Genetic testing and family screening are crucial for diagnosis, prognosis, and personalized treatment strategies.
Area of Science:
- Cardiology
- Genetics
- Precision Medicine
Background:
- Genetic factors are key in personalized heart failure care.
- Hereditary cardiomyopathies are a major cause of heart failure.
- These disorders present diverse clinical phenotypes.
Purpose of the Study:
- To explore hereditary cardiomyopathies and their role in heart failure.
- To highlight the importance of genetic testing and counseling.
- To discuss genotype-specific strategies for precision medicine.
Main Methods:
- Multiparametric diagnosis including clinical evaluation, ECG, imaging, and genetic testing.
- Genetic counseling and testing for subtyping, prognosis, and therapy.
- Family cascade screening for early detection and risk stratification.
Main Results:
- Hereditary cardiomyopathies are classified into HCM, DCM, NDLVC, ARVC, and RCM.
- Genetic testing aids precise subtyping and guides therapy.
- Family screening identifies carriers and optimizes follow-up.
Conclusions:
- Genetic factors are pivotal in managing heart failure.
- Personalized, genotype-specific strategies are advancing precision cardiology.
- Early genetic diagnosis and family screening improve patient outcomes.
Abstract:
Genetic factors play a pivotal role in personalized care for heart failure. This article explores hereditary cardiomyopathies, a heterogeneous group of genetic heart muscle disorders, representing a major cause of heart failure. They are classified into distinct clinical phenotypes: hypertrophic (HCM), dilated (DCM), non-dilated left ventricular (NDLVC), arrhythmogenic right ventricular (ARVC), and restrictive cardiomyopathy (RCM). Diagnosis integrates a multiparametric approach, including clinical evaluation, electrocardiography, advanced imaging, and genetic testing. Genetic counselling and testing are recommended for precise subtyping, prognosis, and therapy guidance. Family cascade screening is critical due to variable penetrance and age-dependent clinical expression, identifying asymptomatic carriers and reducing follow-up burden in low-risk relatives. High-risk genotypes require individualized risk stratification, particularly for life-threatening arrhythmias and sudden cardiac death. Emerging genotype-specific strategies are advancing precision medicine.
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