Marfan症候群家族の心エコー図所見—心エコー図検診の意義

Echocardiographic study of families with Marfan's syndrome: The clinical significance of echocardiographic study in the presence of normal electrocardiograms

　Marfan症候群は結合織の先天性代謝失調を基にする系統的疾患であり，優性遺伝形式をとるため，同一家系内に多発する傾向がある^1）。そしてこの疾患の予後は心血管系合併症の程度により規定されることが多く，心血管系病変の正確な把握が重要と思われる^2）。著者らはBentall手術を施行したMarfan症候群2例の家族に心エコー図検査を行い，胸部レ線，心電図で異常の認められない時期にすでに心エコー図で認め得る心血管系異常を呈している症例を経験したので報告する。

The families of two patients with Marfan's syndrome treated by Bentall's operation were surveyed echocardiographically. Although the ECG and chest X-ray films in those with the characteristic physical features of Marfan's syndrome were normal, echocardiograms enabled the diagnosis of cardio-vascular disorders such as annulo-aortic ectasia and mitt-al valve prolapses. People with Marfan's syndrome are often expected to be activity involved in sports on account of their hight : however, sports trainning and participation need to be restricted if they have cardiovascular abnomalities such as these three patients had. In all cases, patients showing the physical characteristics of Marfan's syndrome should be evaluated by echocardiography even if ECG are normal. This will be of direct benefit both in making an early diagnosis of any cardiovascular abnomalities and in assessing the prognosis.