<i>ALPK3</i> gene mutation in a patient with congenital cardiomyopathy and dysmorphic features.

ABSTRACT: Primary cardiomyopathy is one of the most common inherited cardiac diseases and harbors significant phenotypic and genetic heterogeneity. Because of this, genetic testing has become standard in treatment of this disease group. Indeed, in recent years, next-generation DNA sequencing has found broad applications in medicine, both as a routine diagnostic tool for genetic disorders and as a high-throughput discovery tool for identifying novel disease-causing genes. We describe a male infant with primary dilated cardiomyopathy who was diagnosed using intrauterine echocardiography and found to progress to hypertrophic cardiomyopathy after birth. This proband was born to a nonconsanguineous family with a past history of a male fetus that died because of cardiac abnormalities at 30 wk of gestation

SUBMITTER: Caglayan AO 

PROVIDER: S-EPMC5593152 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature