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家族性肥厚型心肌病合并主动脉缩窄和冠状动脉疾病。家族筛查的重要性。简要报告。

Familiar hypertrophic cardiomyopathy in association with coarctation of the aorta and coronary artery disease. Importance of family screening. A brief report.

作者信息

Hountis P, Argyriou M, Hatziveis K, Roumpeas C, Antonopoulos N

机构信息

Department of Thoracic and Vascular Surgery, Athens Naval and Veterans Hospital, Athens, Greece.

出版信息

Minerva Cardioangiol. 2007 Aug;55(4):517-9.

Abstract

Hypertrophic cardiomyopathy (HCM) is a condition of unknown etiology with thickening of the interventricular septum. It is better defined as a genetic disorder of autosomal dominant inheritance with variable left ventricular hypertrophy and symptoms. HCM has been rarely reported in association with other causes of hypertrophy such as hypertension and aortic stenosis. The combination of aortic stenosis or other arterial stenosis such as coronary artery disease with HCM is unusual. We present a case of a middle aged male with an unusual combination of cardiac diseases. Mild coarctation of aorta, mild aortic stenosis in association with familial HCM and the difficulty in diagnosis are the salient features. The acute change on ECG underscores the presence of coronary artery disease coexistent with the above mentioned diagnosis. The importance of family screening in this situation is highlighted. On the other hand, combined forms of left ventricular outflow obstruction are being recognized with increasing frequency. The importance of recognizing multiple levels of obstruction in such patients is emphasized.

摘要

肥厚型心肌病(HCM)是一种病因不明的疾病,伴有室间隔增厚。它更确切地定义为一种常染色体显性遗传的基因紊乱,伴有可变的左心室肥厚和症状。HCM很少与其他导致肥厚的原因如高血压和主动脉狭窄相关联报道。主动脉狭窄或其他动脉狭窄如冠状动脉疾病与HCM的合并情况并不常见。我们报告一例患有不寻常心脏疾病组合的中年男性病例。轻度主动脉缩窄、与家族性HCM相关的轻度主动脉狭窄以及诊断困难是其显著特征。心电图上的急性变化突出了与上述诊断并存的冠状动脉疾病的存在。强调了在这种情况下进行家族筛查的重要性。另一方面,左心室流出道梗阻的联合形式正越来越频繁地被认识到。强调了识别此类患者多个梗阻层面的重要性。

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