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孤立性右心室发育不全的家族性发生情况。

Familial occurrence of isolated right ventricular hypoplasia.

作者信息

Chessa M, Redaelli S, Masszi G, Iascone M, Carminati M

机构信息

Department of Paediatric Cardiology, Institute of Clinical Physiology of the CNR, G. Pasquinucci Hospital, Massa, Italy.

出版信息

Am J Med Genet. 2000 Feb 28;90(5):356-7. doi: 10.1002/(sici)1096-8628(20000228)90:5<356::aid-ajmg2>3.0.co;2-c.

Abstract

Isolated right ventricular hypoplasia is a rare congenital anomaly. This condition is usually associated with a communication between the atria in the form of a patent foramen ovale or secondum atrial septal defect. We describe a familial occurrence of this rare disease. A 1-day-old male child and his 34-year-old father were found to have isolated right ventricular hypoplasia with atrial septal defect. An autosomal dominant mode of inheritance is likely for this rare congenital anomaly.

摘要

孤立性右心室发育不全是一种罕见的先天性异常。这种情况通常与卵圆孔未闭或继发孔型房间隔缺损形式的心房之间的交通有关。我们描述了这种罕见疾病的家族性发病情况。一名1日龄男婴及其34岁的父亲被发现患有孤立性右心室发育不全伴房间隔缺损。这种罕见的先天性异常可能呈常染色体显性遗传模式。

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