Dolara A, Manetti A
G Ital Cardiol. 1977;7(1):24-32.
Nine families affected by the mid-systolic click syndrome were studied. Of the one hundred and forty-four first-degree relatives, 117 of whom were living, eighty-four were examined. Thirty-five were found to be affected by the syndrome. Twenty-six were females and nine were males. Auscultatory and phonocardiographic findings consisted either of isolated mis-systolic clicks or systolic murmurs or a combination of the two. Electrocardiograms revealed changes of various types, most commonly of the ST-T segment. About seventy per cent of the patients were symptomatic. Nine members, not examined by the authors, had died suddenly; all had a previous history of "cardiopathy". Progressivity of mitral valve disease with age is not confirmed by the present study. It is suggested that the mode of inheritance of the defect might be that of an autosomal dominant form of Mendelian type with delayed expression of the defect. An alternatove hypothesis of a multifactorial inheritance mechanism, which is more stimulating for future studies on the cause of the syndrome, is also taken into consideration.
对9个受收缩中期喀喇音综合征影响的家庭进行了研究。在144名一级亲属中,117人在世,其中84人接受了检查。发现35人患有该综合征。26人为女性,9人为男性。听诊和心音图检查结果包括孤立的收缩中期喀喇音或收缩期杂音,或两者兼有。心电图显示出各种类型的改变,最常见的是ST - T段改变。约70%的患者有症状。9名未接受作者检查的成员突然死亡;所有人都有“心脏病”病史。本研究未证实二尖瓣疾病随年龄的进展情况。提示该缺陷的遗传方式可能是孟德尔式常染色体显性遗传,缺陷表达延迟。还考虑了多因素遗传机制的另一种假设,这对该综合征病因的未来研究更具启发性。