Bruno L, Tredici S, Mangiavacchi M, Colombo V, Mazzotta G F, Sirtori C R
Br Heart J. 1984 Feb;51(2):220-30. doi: 10.1136/hrt.51.2.220.
Polygraphic (including apexcardiograms and carotid pulse tracings) and M mode echocardiographic examinations were carried out in 34 symptomatic patients with Marfan's syndrome; similar studies were performed in 32 relatives and in 34 young patients with kyphoscoliotic disease. The purpose of these investigations was to determine the association between cardiac and oculoskeletal abnormalities and to identify specific patterns of disease with a poor prognosis. Polygraphic tests showed significant changes in all patients with Marfan's syndrome: 74% showed the apical systolic click and murmur of mitral valve prolapse; 48% had the diastolic murmur of aortic regurgitation; isolated mitral valve prolapse was found in 52%, 26% had isolated aortic regurgitation, and 22% had a combination of the two. Echocardiographic changes were also found in all patients: 79% had aortic root dilatation; 48% fluttering of the anterior mitral leaflet; 79% mitral valve prolapse, mostly pansystolic; 34% both mitral prolapse and aortic root dilatation; and 34% left ventricular dilatation. The severities of the cardiac and oculoskeletal abnormalities were not correlated. The high prevalence of mitral valve prolapse found in these patients, which did not vary with age or sex, was also present in their relatives: mitral prolapse was present in 38% and aortic dilatation, with or without regurgitation, in 14%. Four of the relatives had clearcut Marfan's syndrome, and at least four others a forme fruste. The metacarpal index was abnormal in 41% of the relatives; ocular abnormalities were rare. In kyphoscoliotic patients only an increase in the prevalence of mitral prolapse (18.2% in women, none in men) was found. These findings underline a complex pattern of association between cardiac, ocular, and skeletal abnormalities in patients with Marfan's syndrome and confirm an appreciable inheritability of several of the markers of the disease.
对34例有症状的马方综合征患者进行了多导记录检查（包括心尖搏动图和颈动脉脉搏描记）及M型超声心动图检查；对32名亲属和34例脊柱后侧凸疾病的年轻患者进行了类似研究。这些研究的目的是确定心脏和骨骼异常之间的关联，并识别预后不良的特定疾病模式。多导记录检查显示，所有马方综合征患者均有显著变化：74%出现二尖瓣脱垂的心尖收缩期喀喇音和杂音；48%有主动脉瓣关闭不全的舒张期杂音；52%发现孤立性二尖瓣脱垂，26%有孤立性主动脉瓣关闭不全，22%两者兼有。超声心动图检查也发现所有患者均有变化：79%有主动脉根部扩张；48%二尖瓣前叶扑动；79%二尖瓣脱垂，多为全收缩期；34%既有二尖瓣脱垂又有主动脉根部扩张；34%有左心室扩张。心脏和骨骼异常的严重程度无相关性。这些患者中二尖瓣脱垂的高患病率与年龄和性别无关，在其亲属中也存在：38%有二尖瓣脱垂，14%有主动脉扩张，伴或不伴有反流。4名亲属有明确的马方综合征，至少4名其他亲属有顿挫型。41%的亲属掌骨指数异常；眼部异常罕见。在脊柱后侧凸患者中，仅发现二尖瓣脱垂的患病率增加（女性为18.2%，男性无）。这些发现强调了马方综合征患者心脏、眼部和骨骼异常之间复杂的关联模式，并证实了该疾病的几种标志物具有明显的遗传性。
