Asymptomatic noncompaction myocardium and familial probable partial penetrant disease.
Isolated noncompaction of the ventricular myocardium is thought to be caused by arrest of normal embryogenesis of the endocardium and myocardium. Clinical manifestations are highly variable, from no symptoms to congestive heart failure, arrhythmias, and systemic thromboemboli. Both familial and sporadic forms have been described, and mutations of certain genes have been related with this entity. Partial penetration of the disease is reported. We report an asymptomatic infant accomplishing the echocardiographic criteria, and his mother, showing prominent trabeculations and recesses, but not fulfilling all the diagnosis criteria.
Betrián Blasco
Pedro
P
Lopez Ayerbe
Jorge
J
D009202:Cardiomyopathies / Q000000981:diagnostic imaging / Q000196:embryology / Q000235:genetics* / Q000473:pathology*; D002675:Child, Preschool; D004727:Endothelium / Q000473:pathology; D006352:Heart Ventricles / Q000196:embryology / Q000473:pathology; D006801:Humans; D008297:Male; D009206:Myocardium / Q000473:pathology; D014463:Ultrasonography