Left Ventricular Noncompaction: A Rare Disorder in Adults and Its Association With 1p36 Chromosomal Anomaly

被引：5

作者：

Dod, Harvinder S. ^{[1
]}

Bhardwaj, Ravindra ^{[1
]}

Hummel, Marybeth ^{[2
]}

Morise, Anthony P. ^{[1
]}

Batish, Satdev ^{[3
]}

Warden, Bradford E. ^{[1
]}

Beto, Robert J. ^{[1
]}

Jain, Abnash C. ^{[1
]}

机构：

[1] W Virginia Univ, Cardiol Sect, Dept Med, Morgantown, WV 26506 USA

[2] W Virginia Univ, Dept Pediat, Morgantown, WV 26506 USA

[3] Athena Diagnost Inc, Worcester, MA USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2010年 / 152A卷 / 01期

关键词：

deletion; 1p36; left ventricular noncompaction; unclassified cardiomyopathy; 2D-TTE (two-dimensional transthoracic echocardiography); TERMINAL DELETION; NON-COMPACTION; SEPTAL-DEFECTS; BARTH-SYNDROME; GENE LOCUS; CARDIOMYOPATHY; MYOCARDIUM; MUTATIONS; PHENOTYPE; CHILDREN;

D O I：

10.1002/ajmg.a.33155

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a case of a 25-year-old male with 1p36 deletion syndrome, who was diagnosed with left ventricular noncompaction (LVNC). The association of this rare chromosomal abnormality with LVNC is reported in the pediatric literature, but it has not previously been specifically reported in adults. It is important to diagnose this unclassified cardiomyopathy in the adult population with this chromosomal abnormality for appropriate management and treatment as highlighted in our case. (C) 2009 Wiley-Liss, Inc.

引用

页码：191 / 195

页数：5

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