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肥厚型心肌病与完全性房室通道缺损及唐氏综合征的罕见关联。

Unusual association of hypertrophic cardiomyopathy with complete atrioventricular canal defect and Down syndrome.

作者信息

Eidem B W, Jones C, Cetta F

机构信息

Department of Pediatrics, Loyola University Medical Center, Maywood, Illinois 60153, USA.

出版信息

Tex Heart Inst J. 2000;27(3):289-91.

Abstract

Hypertrophic cardiomyopathy typically presents as an isolated cardiac lesion. Transient hypertrophic cardiomyopathy in infancy has been described as a result of exposure to maternal metabolic disorders or to corticosteroids. In addition, hypertrophic cardiomyopathy has been described in association with genetic syndromes and, in rare cases, as a primary lesion associated with other congenital heart defects. We describe the unusual association of hypertrophic cardiomyopathy and complete atrioventricular canal defect in an infant with trisomy 21.

摘要

肥厚型心肌病通常表现为孤立性心脏病变。婴儿期的短暂性肥厚型心肌病已被描述为母体代谢紊乱或接触皮质类固醇的结果。此外,肥厚型心肌病已被描述与遗传综合征相关,在罕见情况下,作为与其他先天性心脏缺陷相关的原发性病变。我们描述了一名患有21三体综合征的婴儿中肥厚型心肌病与完全性房室通道缺损的不寻常关联。

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本文引用的文献

1
Simultaneous hypertrophic cardiomyopathy and ventricular septal defect in children.
Am J Cardiol. 1999 Aug 15;84(4):485-6. doi: 10.1016/s0002-9149(99)00343-4.
4
Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy.
N Engl J Med. 1995 Apr 20;332(16):1058-64. doi: 10.1056/NEJM199504203321603.
6
Hypertrophic cardiomyopathy in infants: clinical features and natural history.
Circulation. 1982 Jan;65(1):7-17. doi: 10.1161/01.cir.65.1.7.
7
Cardiac septal hypertrophy in hyperinsulinemic infants.
J Pediatr. 1980 Mar;96(3 Pt 2):535-9. doi: 10.1016/s0022-3476(80)80862-6.
8
Cardiovascular disease in Down syndrome.
Pediatr Clin North Am. 1984 Dec;31(6):1331-43. doi: 10.1016/s0031-3955(16)34725-3.
9
Congenital anomalies in the heart with hypertrophic cardiomyopathy.
Br Heart J. 1968 Sep;30(5):713-22. doi: 10.1136/hrt.30.5.713.

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