Journal of the American Heart Association
Journal of the American Heart Association
5 years ago

Novel α-Actin Gene Mutation p.(Ala21Val) Causing Familial Hypertrophic Cardiomyopathy, Myocardial Noncompaction, and Transmural Crypts. Clinical-Pathologic Correlation.

Cristina Chimenti, Carlo Gaudio, Andrea Frustaci, Tommaso Mazza, Claudio Letizia, Nicola Galea, Matteo Antonio Russo, Valentina Guida, Tommaso Biagini, Alessandro De Luca
Mutations of α-actin gene (ACTC1) have been phenotypically related to various cardiac anomalies, including hypertrophic cardiomyopathy and dilated cardiomyopathy and left ventricular (LV) myocardial noncompaction. A novel ACTC mutation is reported as cosegregating for familial hypertrophic cardiomyopathy and LV myocardial noncompaction with transmural crypts.

Publisher URL: http://doi.org/10.1161/JAHA.117.008068

DOI: 10.1161/JAHA.117.008068

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