无症状的心肌致密化不全与家族性部分染色体疾病

孤立性心室心肌致密化不全目前被认为是由于心内膜和心肌的正常胚胎发育停止所导致。此病的临床表现具有高度变异性,既可以无任何症状,又可能表现为充血性心力衰竭、心律失常及系统性血栓形成等。目前,此病的家族性及散发病例均有报道,且其发病被认为与基因突变有关,该疾病的部

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.