© Kamla-Raj 2004                                                                        Int J Hum Genet, 4(1): 71-73 (2004)

An Uncommon Congenital Cardiovascular Malformation with

Turner Syndrome – A Case Report

C. Emmanuel¹, K.M. Cherian¹, P.M. Gopinath², Snehal Kulkarni¹, 

N. Chandra² and A. Ramesh²

1. Institute  of   Cardio Vascular  Diseases,  Madras  Medical  Mission, 4A,

Mogappair,  Chennai  600 037, Tamil Nadu,   India
2. Department of Genetics, University of Madras, Taramani Campus,

Chennai  600 113, Tamil Nadu,  India

KEY WORDS Congenital cardiovascular malformations; Chromosome abnormality; Transposition of great arteries; Turner syndrome

ABSTRACT The association of Turner syndrome (TS) with congenital cardio vascular malformations is well established. Bicuspid aortic valve and coarctation of aorta have been associated most commonly with Turner syndrome. There are also rare reports of atrial septal defect and aortic aneurysm with Turner syndrome. We report a uncommon case of transposition of great arteries (TGA) associated with turner syndrome (45, X, 16qh+).

Home                  Back