Abstract
Cardiomyopathy is characterized by structural and functional abnormalities in the heart muscle that are not influenced by coronary disease, hypertension, valve disease, or congenital heart defects. Genetic testing, which helps diagnose the molecular bases of cardiomyopathy, can affect prognostication and clinical decisions. Recent guidelines advocate classifying cardiomyopathies based on phenotypic categories, which encompass a range of clinical presentations, underlying causes, and outcomes. Beyond deepening our grasp of the disease, genetic testing can distinguish between diseases with similar presentations, known as genocopies, which can profoundly influence treatment decisions. Genetic testing is also essential for reproductive counseling and risk evaluation among family members. Combined with advanced imaging techniques such as magnetic resonance imaging, genetic investigation offers a comprehensive understanding of the disease. Thus, as the nature of cardiomyopathies continues to be unraveled, cardiologists must stay updated on advances in genetic testing and their practical applications.
Cardiomyopathies; Genetics; Genetic Testing
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Genetic implications of cardiomyopathies. Genes. PLN: phospholamban; LMNA: lamin A/C; FLNC: filamin C; TMEM43: transmembrane protein 43; DSP: desmoplakin; RBM20: RNA binding motif protein 20; TTR: transthyretin; PRKAG2: protein kinase AMP-activated non-catalytic subunit gamma 2; DCM: dilated cardiomyopathy; ACM: arrhythmogenic cardiomyopathy; HCM: hypertrophic cardiomyopathy; LVEF: left ventricular ejection fraction; P/LP: Pathogenic/likely pathogenic; ICD: implantable cardioverter defibrillator; AG10: acoramidis; MEK: MAPK-ERK kinase.
