October 4, 2007Journal of Cardiovascular Electrophysiology
Genetic Basis of Hypertrophic Cardiomyopathy: From Bench to the Clinics
Key result
More than 450 different mutations within 13 myofilament-related genes have been identified as causative for hypertrophic cardiomyopathy, an autosomal dominant inherited cardiac disorder.
Population
Patients with hypertrophic cardiomyopathy (HCM)
Design
Review
Authors
Discussion
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Implication
Broadens targets for HCM genetic testing; leaves open variant-specific risk stratification and management.
Key Points
- To review the genetic etiology of hypertrophic cardiomyopathy, the molecular mechanisms linking sarcomeric mutations to myocardial hypertrophy and arrhythmia, and their clinical translation.
- Synthesized molecular and clinical literature regarding causative and modifier genes in inherited hypertrophic cardiomyopathy.
- Evaluated pathological pathways linking sarcomere protein alterations to left ventricular remodeling, heart failure, and sudden cardiac death.
- Cataloged more than 450 distinct autosomal dominant mutations identified across 13 myofilament-related genes encoding sarcomeric proteins.
- Established sarcomeric mutations as primary drivers of left ventricular wall thickening, heart failure, and sudden cardiac death in individuals under 35 years of age.
Structured PICO
P
Population
Patients with hypertrophic cardiomyopathy (HCM)
This review summarizes the genetic basis of hypertrophic cardiomyopathy, including the discovery of causative genes, mechanisms of hypertrophy and arrhythmia, and clinical implications.
Cite This Study
Alcalai et al. (2007) conducted a review in Hypertrophic cardiomyopathy (HCM). More than 450 different mutations within 13 myofilament-related genes have been identified as causative for hypertrophic cardiomyopathy, an autosomal dominant inherited cardiac disorder.