论文部分内容阅读
Sengers等首次于1975年从荷兰3个无关的家族7例患者中描述了本病,其特征是:先天性白内障、肥厚型心肌病(HC)、线粒体肌病和与运动有关的乳酸性酸中毒。本文报道冰岛3个家族的6例患儿。本文6例患者先后发现先天性白内障和HC。HC 6例中有4例经临床、心电图和超声心动图证实,2例通过临床表现、家族史和尸检作回顾性诊断。本文6例,男1例,女5例,年龄4～108个月,其中4例死亡(年龄8个月至3.5年)。心脏重量74～171 g,心肌呈弥漫性、对称性肥厚,室间隔厚度与左室后壁厚度相比,并无明显增加。心电图:5例中有4例显示左室肥厚伴劳损,仅1例出现短暂、反复发
Sengers et al first described the disease in seven unrelated patients in the Netherlands in 1975 from seven unrelated patients characterized by congenital cataracts, hypertrophic cardiomyopathy (HC), mitochondrial myopathy and exercise-related lactic acidosis . This article reports 6 children in 3 families in Iceland. Six patients in this paper have found that congenital cataracts and HC. Four of six HC cases were confirmed by clinical, electrocardiographic and echocardiographic findings and two were retrospectively diagnosed by clinical presentation, family history, and autopsy. This article 6 cases, 1 males and 5 females, aged 4 to 108 months, of which 4 were killed (age 8 months to 3.5 years). Heart weight 74 ~ 171 g, myocardial diffuse symmetry hypertrophy, ventricular septal thickness and left ventricular posterior wall thickness, no significant increase. ECG: 4 of 5 cases showed left ventricular hypertrophy with strain, only 1 case of transient, anti-recurrent