Busacca P, Pozzolini A, Minutiello L
Ospedale Civile, Urbino.
G Ital Cardiol. 1998 Oct;28(10):1144-8.
The trisomy 21 form of Down's syndrome is the most common human chromosomal aberration. Congenital heart disease is found in as many as 50 per cent of patients with this disorder. The two most common cardiac lesions in Down's syndrome are septal ventricular defect and endocardial cushion defect. Secundum atrial septal defect, tetralogy of Fallot and isolated patent ductus arteriosus are also observed in these Down's patients. Transposition of great arteries and coarctation of the aorta are rarely seen. Most patients having Down's syndrome with congenital heart disease have a single lesion. However, as many as 30 per cent may have multiple cardiac defects. Parachute mitral valve is a rare congenital mitral defect: a single papillary muscle in the left ventricle is the hallmark of this lesion. A parachute mitral valve is frequently associated with other left heart disorders such as supravalvular mitral ring, abnormal and stenosed mitral valve, subaortic stenosis and coarctation of the aorta, thus constituting either a complete form of Shone's complex (when all 4 components are present) or an incomplete form when there are fewer. The aim of the present report is to describe the connection between Down's syndrome and isolated, non-stenosed parachute mitral valve, which has never been reported before.
唐氏综合征的21三体形式是最常见的人类染色体畸变。在患有这种疾病的患者中,高达50%的人患有先天性心脏病。唐氏综合征中最常见的两种心脏病变是室间隔缺损和心内膜垫缺损。继发孔房间隔缺损、法洛四联症和孤立性动脉导管未闭在这些唐氏患者中也有观察到。大动脉转位和主动脉缩窄很少见。大多数患有先天性心脏病的唐氏综合征患者有单一病变。然而,多达30%的患者可能有多个心脏缺陷。降落伞样二尖瓣是一种罕见的先天性二尖瓣缺陷:左心室单个乳头肌是该病变的标志。降落伞样二尖瓣常与其他左心疾病相关,如二尖瓣瓣上环、二尖瓣异常和狭窄、主动脉瓣下狭窄和主动脉缩窄,从而构成完整形式的肖恩综合征(当所有4个成分都存在时)或成分较少时的不完整形式。本报告的目的是描述唐氏综合征与孤立的、无狭窄的降落伞样二尖瓣之间的联系,这在此之前从未有过报道。