PMID: 9538313Apr 16, 1998Paper

Monosomy 22q11 in patients with pulmonary atresia, ventricular septal defect, and major aortopulmonary collateral arteries

Heart
Michael HofbeckH Singer

Abstract

To describe the morphology of the pulmonary arteries in patients with pulmonary atresia, ventricular septal defect, and major aortopulmonary collateral arteries with and without monosomy 22q11. A retrospective analysis of all patients with this congenital heart defect who are being followed at the University Children's Hospital Erlangen. A tertiary referral centre for paediatric cardiology and paediatric cardiac surgery. 21 patients with pulmonary atresia, ventricular septal defect, and major aortopulmonary collateral arteries. Monosomy 22q11 was diagnosed by fluorescent in situ hybridisation using the D22S75 probe (Oncor). The morphology of the pulmonary arteries was assessed on the basis of selective angiograms. 10 patients (48%) were shown to have a microdeletion in 22q11 (group I). There was no difference with respect to the presence of confluent central pulmonary arteries between these patients (80%) and the remaining 11 patients (group II) without monosomy 22q11 (91%). Patients of group I, however, more often had arborisation anomalies of the pulmonary vascular bed (90% in group I v 27% in group II). Because of the more severe abnormalities of the pulmonary arteries, a biventricular repair had not been possible in any of ...Continue Reading

Citations

May 8, 2001·Genetics in Medicine : Official Journal of the American College of Medical Genetics·B MarinoB Dallapiccola
May 8, 2001·Genetics in Medicine : Official Journal of the American College of Medical Genetics·K MommaM Takayama
Jan 27, 2007·Journal of Cardiovascular Medicine·Gerardo PiacentiniBruno Marino
Sep 11, 2002·Cardiology in the Young·Renata N RossiAndrew C Cook
Jul 31, 2004·Seminars in Thoracic and Cardiovascular Surgery. Pediatric Cardiac Surgery Annual·Gary K Lofland
May 25, 2010·The American Journal of Cardiology·Kazuo Momma
Feb 15, 2005·Journal of the American College of Cardiology·Luc M BeauchesneVirginia V Michels
Dec 11, 2003·The Journal of Thoracic and Cardiovascular Surgery·Adriano CarottiRoberto M Di Donato
Nov 23, 2006·ASAIO Journal : a Peer-reviewed Journal of the American Society for Artificial Internal Organs·Tijen AlkanAydn Aytaç
Jan 7, 2015·Circulation. Cardiovascular Genetics·Laura Mercer-RosaElizabeth Goldmuntz
Oct 12, 2000·European Journal of Cardio-thoracic Surgery : Official Journal of the European Association for Cardio-thoracic Surgery·G K Lofland
May 3, 2003·International Journal of Cardiology·Jesse Li-Ling

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