Novel ?-Actin Gene Mutation p.(Ala21Val) Causing Familial Hypertrophic Cardiomyopathy, Myocardial Noncompaction, and Transmural Crypts. Clinical-Pathologic Correlation
01 Pubblicazione su rivista
Frustaci Andrea, De Luca, Alessandro, Guida, Valentina, Biagini, Tommaso, Mazza, Tommaso, Gaudio Carlo, Letizia Claudio, Russo, Matteo Antonio, Galea Nicola, Chimenti Cristina
ISSN: 2047-9980
Mutations of ?-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.