Complex congenital cardiac disease in a patient with partial trisomy for the long arms of chromosomes 11 and 22

Authors: Chetcuti-Ganado, Claudia; Grech, Victor

Source: Cardiology in the Young, Volume 13, Number 5, October 2003 , pp. 481-483(3)

Publisher: Greenwich Medical Media

Key:

- Free Content

- New Content

- Subscribed Content

- Free Trial Content

Abstract:

Abnormalities of chromosomes 11 and 22 are associated with congenital cardiac disease and/or various syndromes. We present a patient with partial trisomy for the long arms of chromosomes 11 and 22, the result of a maternal balanced reciprocal translocation between these two chromosomes. Our patient was dysmorphic and had coarctation of the aorta, an atrioventricular septal defect with common atrioventricular junction and exclusively atrial shunting, patency of the arterial duct, supracardiac totally anomalous pulmonary venous connection, a single kidney, and tracheobronchomalacia. This patient is unusual in having extensive left-sided cardiac involvement, a feature not usually found in this condition.

Keywords: CHROMOSOMES; HUMAN; PAIR 11; AORTIC COARCTATION; HEART SEPTAL DEFECTS; PATENT ARTERIAL DUCT

Document Type: Short communication

The full text article is not available for purchase.

The publisher only permits individual articles to be downloaded by subscribers.