Population
15 probands with apical hypertrophy (nonobstructive hypertrophy localized to the cardiac apex)
Design
Case_series
Key result
Sarcomere gene mutations were identified in 7 of 15 probands with apical hypertrophic cardiomyopathy, with the cardiac actin Glu101Lys mutation consistently producing apical morphology.
Authors
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Apical HCM genetic testing may refine family counseling; leaves open distinct variant-phenotype drivers versus typical HCM.
Observational (n=15)
Only a limited number of sarcomere gene defects, such as the cardiac actin Glu101Lys mutation, consistently produce the apical variant of hypertrophic cardiomyopathy.
Arad et al. (2005) conducted an observational in Apical hypertrophic cardiomyopathy (n=15). Sarcomere protein gene mutations was evaluated on Identification of genetic mutations. Sarcomere gene mutations were identified in 7 of 15 probands with apical hypertrophic cardiomyopathy, with the cardiac actin Glu101Lys mutation consistently producing apical morphology.