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伴有房室传导缺陷的家族性房间隔缺损

Familial atrial septal defect with atrioventricular conduction defects.

作者信息

Mandorla S, Martino C

机构信息

R. Silvestrini General Hospital, Division of Cardiology, Perugia.

出版信息

G Ital Cardiol. 1998 Mar;28(3):294-6.

PMID:9561886
Abstract

Atrial septal defect of the ostium secundum type is almost always sporadic, with multifactorial inheritance. We report a case of a family in which atrial septal defects of the ostium secundum type with atrioventricular conduction defects were observed in four generations: five proven cases and two probable cases. Ten families have been reported as showing atrial septal defect of the ostium secundum type and atrioventricular conduction defects with dominant inheritance. Moreover, in our family the transmission model can also confirm autosomal dominant inheritance. We believe that cardiologists should take a familial approach to atrial septal defect of the ostium secundum type for both research and genetic counseling purposes. In a patient with ASD II, the AV conduction defects should prompt a detailed family history and clinical evaluation of first-degree relatives.

摘要

继发孔型房间隔缺损几乎总是散发的,具有多因素遗传。我们报告了一个家族病例,其中四代人观察到继发孔型房间隔缺损合并房室传导缺陷:5例确诊病例和2例可能病例。已有10个家族被报道显示继发孔型房间隔缺损合并房室传导缺陷呈显性遗传。此外,在我们的家族中,遗传模式也可证实常染色体显性遗传。我们认为,心脏病专家应从家族角度对继发孔型房间隔缺损进行研究并提供遗传咨询。对于继发孔型房间隔缺损患者,房室传导缺陷应促使医生详细了解其家族史并对一级亲属进行临床评估。

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