Neonatal dilated cardiomyopathy and cardiospondylocarpofacial syndrome linked to a novel MAP3K7 gene mutation.

Abstract

Cardiospondylocarpofacial syndrome (CSCF) is a rare congenital disorder characterized by growth impairment, polyvalvular heart diseases, and skeletal anomalies caused by a mutation in the mitogen-activated protein three kinase seven (MAP3K7) gene. It encodes transforming growth factor-β activated kinase1 (TAK1), a member of the mitogen-activated protein kinase (MAPK) family, and is responsible for abnormal skeletal and cardiac morphogenesis. We report a case of CSCF syndrome with a novel variant of the MAP3K7 gene c.710 C>T (p.F237s) in a newborn who has severe dilated cardiomyopathy (DCM) and congenital heart disease (CHD) and presented with acute heart failure (HF). DCM has not been reported before with CSCF. This case emphasizes the role of genetic testing in diagnosing the syndromic neonate with DCM.