García-Díaz Lutgardo, Coserria Félix, Antiñolo Guillermo
Unidad de Gestión Clínica de Genética, Reproducción y Medicina Fetal, Instituto de Biomedicina de Sevilla (IBIS), Hospital Universitario Virgen del Rocío, CSIC, Universidad de Sevilla, 41013 Sevilla, Spain.
Case Rep Obstet Gynecol. 2013;2013:472356. doi: 10.1155/2013/472356. Epub 2013 Jan 3.
A case of prenatally diagnosed fetal hypertrophic cardiomyopathy is reported. The mother was referred to our department at 37 weeks' gestation because of suspected congenital heart disease. Prenatal echocardiography showed biventricular hypertrophy and pericardial effusion, without additional abnormalities. Postnatal echocardiography confirmed prenatal diagnosis. Neonatal EKG showed biventricular hypertrophy and Wolff-Parkinson-White syndrome. Skeletal muscle biopsy was consistent with mitochondrial oxidative phosphorylation defect involving a combined defect of respiratory complexes I and IV. Echocardiographic followup during the first year of life showed progressive regression of hypertrophy and evolution to left ventricular myocardial noncompaction.
报告了一例产前诊断的胎儿肥厚型心肌病病例。母亲因疑似先天性心脏病于妊娠37周时转诊至我科。产前超声心动图显示双心室肥厚和心包积液，无其他异常。产后超声心动图证实了产前诊断。新生儿心电图显示双心室肥厚和预激综合征。骨骼肌活检结果与线粒体氧化磷酸化缺陷相符，涉及呼吸链复合体I和IV的联合缺陷。出生后第一年的超声心动图随访显示肥厚逐渐消退，并演变为左心室心肌致密化不全。
