心肌致密化不全合并心脏外畸形2例

Case report:noncompaction of the ventricular myocardium associated with polycystic kidney disease or hemivertebra

心肌致密化不全是一种新的少见心肌病,病因及发病机制尚不十分清楚,多认为可能是胚胎心脏发育过程中,基因突变引起病变区心肌致密化过程停滞。心肌致密化不全常合并心脏畸形,如室间隔缺损、二叶式主动脉瓣,但合并心脏外畸形报道不多。本文对我院诊断心肌致密化不全患者48例进行筛查,发现2例合并心脏以外畸形,现予以报道。1病例资料例1,男,26岁,胸闷、气短、呼吸困难1周。患者于2012-11-13感冒后感胸闷、气短、呼吸困难。

This report describesd two cases with the presentations of other anomalities.First case was a 26-years old man who had been admitted to our hospital because of chest tightness,dyspnea after the cold.There was high blood pressure of 160/110mmHg,with kidney failure of serum creatinine 234μmol/L.Ultrasound showed polycystic kidney,echocardiography revealed with unique features of prominent trabeculations of the myocardium and deep endocardial recesses.The trabeculation thickness was more than twice the thickness of the underlying. The diagnosis of isolated noncompaction of ventricular myocardium with polycystic kidney disease can be made. The second case was a 23-year old man who had been admitted to our hospital because of shortness of breath.His mother suffered from jaundice hepatitis during pregnancy.Eechocardiography revealed severely reduced left ventricular contraction,mild mitral regurgitation,thickened myocardium with prominent trabeculations and deep intertrabecular recesses.Lumbar magnetic resonance imaging（MRI）revealed congenital malformation of hemivertebra in L1L3.This was a case of NCM coupled with hemivertebra.