CARDIAC ABNORMALITIES IN THE BARDET-BIEDL-SYNDROME - ECHOCARDIOGRAPHIC STUDIES OF 22 PATIENTS
CARDIAC ABNORMALITIES IN THE BARDET-BIEDL-SYNDROME - ECHOCARDIOGRAPHIC STUDIES OF 22 PATIENTS
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DOI：
10.1002/ajmg.1320520208
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发表时间：
1994-08-15
期刊：
影响因子：
--
通讯作者：
CARMI, R
中科院分区：
文献类型：
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作者：
ELBEDOUR, K;ZUCKER, N;CARMI, R
Bardet-Biedl综合征是一种常染色体隐性遗传性疾病，包括多指、肥胖、带状视网膜变性、智力低下、生殖器发育不良和肾脏受累。据报道，先天性和获得性心脏病在以前的“劳伦斯-穆恩-比德尔-巴德综合征”中发病率很高。然而，自从Bardet-Biedl综合征作为一个独立的临床实体建立以来，心脏受累还没有在这种疾病中得到评估。我们对来自三个高度近亲繁殖的贝都因家族的22名Bardet-Biedl综合征患者进行了超声心动图研究。除了先前报道的先天性心脏缺陷外，我们还观察到室间隔肥厚和扩张型心肌病。我们在50%的病例中发现心脏受累，提示超声心动图检查应包括在Bardet-Biedl综合征患者的临床评估和随访中。(C)1994年Wiley-Liss，Inc.
The Bardet-Biedl syndrome is an autosomal recessive disorder of polydactyly, obesity, tapetoretinal degeneration, mental retardation, hypogenitalism, and renal involvement. A high incidence of congenital and acquired heart disease was reported in the former ''Laurence-Moon-Biedl-Bardet'' syndrome. However, since the establishment of the Bardet-Biedl syndrome as a separate clinical entity, cardiac involvement has not been evaluated in this disorder. We have performed echocardiographic studies on 22 patients with the Bardet-Biedl syndrome from three extended, highly inbred Bedouin families. In addition to previously reported congenital heart defects we have observed hypertrophy of the interventricular septum and dilated cardiomyopathy. Our findings of cardiac involvement in 50% of the cases suggest that echocardiographic examination should be included in the clinical evaluation and follow-up of patients with Bardet-Biedl syndrome. (C) 1994 Wiley-Liss, Inc.