Chromosome 22q11 deletion in a patient with pulmonary atresia, intact ventricular septum, and confluent branch pulmonary arteries.

Autor: Aggarwal V; 1Department of Pediatrics,Lillie Frank Abercombie Section of Cardiology,Texas Children's Hospital and Baylor College of Medicine,Houston,Texas,United States of America., Imamura M; 2Department of Surgery,Division of Congenital Heart Surgery,Texas Children's Hospital and Baylor College of Medicine,Houston,Texas,United States of America., Acuna C; 3Department of Pediatrics, Division of Critical Care,Hospital Luis Calvo Mackenna,Providencia,Santiago,Chile., Cabrera AG; 1Department of Pediatrics,Lillie Frank Abercombie Section of Cardiology,Texas Children's Hospital and Baylor College of Medicine,Houston,Texas,United States of America.
Jazyk: angličtina
Zdroj: Cardiology in the young [Cardiol Young] 2018 Mar; Vol. 28 (3), pp. 467-470. Date of Electronic Publication: 2017 Dec 13.
DOI: 10.1017/S104795111700227X
Abstrakt: In this study, we report a patient with pulmonary atresia with intact ventricular septum (PA/IVS), confluent pulmonary arteries supplied by an arterial duct, and chromosome 22q11.2 microdeletion. The 22q11.2 deletion syndrome has been associated with anomalies of the outflow tracts, such as tetralogy of Fallot with either pulmonary stenosis or atresia, but we are aware of a solitary case described with pulmonary atresia when the ventricular septum is intact. The presence of genetic malformations can have long-term co-morbidities. By describing our patient, we aim to create awareness of this rare association.
Databáze: MEDLINE