Cardiomyopathies: Classification, Genetic Basis, and Contemporary Management

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This chapter delivers a comprehensive review of the cardiomyopathies — including hypertrophic, dilated, arrhythmogenic, restrictive, and infiltrative forms — with emphasis on their genetic architecture, pathophysiological heterogeneity, and clinical phenotypic spectrum. It reviews advances in genetic testing and cascade family screening strategies, the diagnostic role of cardiac MRI and endomyocardial biopsy, and the expanding therapeutic armamentarium including mavacamten for hypertrophic cardiomyopathy and tafamidis for transthyretin amyloid cardiomyopathy. The chapter also addresses the growing recognition of overlap syndromes and the implications of genotype-phenotype correlations for clinical management.

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