Key result
Genetic testing in unexplained LVH yields pathogenic sarcomere mutations in ~30-50% of patients.
Why the study?
The role of genetic findings in predicting development of disease, outcomes, and guiding management in HCM is evolving with larger data sets, highlighting emerging themes in genetic testing and familial evaluation.
Design
Review
Authors
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Supports genetic evaluation in unexplained LVH; leaves open standardization of panels and outcome impact.
Genetic testing in HCM is increasingly important for definitive diagnosis, risk stratification for sudden death, and guiding management strategies including the use of myosin inhibitors and future gene therapies.
García-Hernández et al. (2024) conducted a review in Hypertrophic cardiomyopathy (HCM). Genetic testing was evaluated. Genetic testing in patients with unexplained left ventricular hypertrophy yields a definite or likely pathogenetic mutation in a sarcomere (30%-50%), regulatory (10%-15%), or metabolic (<5%) gene.
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