Subvalvular aortic stenosis associated with 8p23 delection

被引：1

作者：

Aguiar, Patricio ^{[1
]}

Cruz, Diogo ^{[1
]}

Rodrigues, Rita Ferro ^{[2
]}

Araujo, Francisco ^{[3
]}

Ducla Soares, Jose Luis ^{[1
]}

机构：

[1] EPE, Ctr Hosp Lisboa Norte, Hosp Santa Maria, Serv Med 1, Lisbon, Portugal

[2] EPE, Ctr Hosp Lisboa Norte, Hosp Santa Maria, Serv Doencas Infecciosas, Lisbon, Portugal

[3] Hosp Beatriz Angelo, Med Serv, Loures, Portugal

来源：

REVISTA PORTUGUESA DE CARDIOLOGIA | 2013年 / 32卷 / 02期

关键词：

Chromosomal abnormality; Congenital heart disease; 8p23; deletion; Subvalvular aortic stenosis; CONGENITAL HEART-DEFECTS; DIAPHRAGMATIC-HERNIA; SUBAORTIC STENOSIS; DELETION; FEATURES; REGION;

D O I：

10.1016/j.repc.2012.05.025

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We report the case of a 35-year-old man admitted due to heart failure, who had had moderate cognitive deficit, craniofacial dysmorphism, epilepsy, panic attacks and congenital heart disease (subvalvular aortic stenosis) associated with chronic atrial fibrillation since childhood. In view of his facial dysmorphism and clinical presentation, karyotype analysis was performed and revealed a de novo interstitial deletion in chromosome 8 in the region p23.1-p23.2. This is a rare chromosomal anomaly (about 50 descriptions in the literature), whose most common manifestations include heart defects, cognitive retardation and behavioral disturbances. In this paper we present the first case with associated subvalvular aortic stenosis and review the literature on this chromosomal abnormality. (C) 2012 Sociedade Portuguesa de Cardiologia. Published by Elsevier Espana, S.L. All rights reserved.

引用

页码：153 / 157

页数：5

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