PMID: 11339379May 8, 2001Paper

Tetralogy of Fallot associated with chromosome 22q11.2 deletion in adolescents and young adults

Genetics in Medicine : Official Journal of the American College of Medical Genetics
Kazuo MommaM Takayama

Abstract

To clarify the clinical profiles of adolescents and young adults with tetralogy and 22q11.2 deletion, which has recently been identified as a cause of tetralogy of Fallot in about 15% of patients. Thirty-four patients with 22q11.2 deletion and tetralogy of Fallot, with or without pulmonary atresia, including 15 males and 19 females, with their age ranging from 16 to 35 years (mean = 25) were studied. Main outcome measurements include chromosome deletion identified by fluorescence in situ hybridization (FISH) of peripheral blood lymphocytes, medical states assessed with New York Heart Association classification, social activity assessed with Warnes index, IQ assessed by Wechsler test. Eighteen of 20 patients with tetralogy and pulmonary stenosis had cardiac repair, and their cardiac conditions were good except one. Of 14 patients with tetralogy with pulmonary atresia, 7 had Rastelli type cardiac repair and were doing well, although 4 of them needed re-operation for conduit stenosis. No cardiac repair was done in the other 7 patients with tetralogy, pulmonary atresia and major collateral arteries because their peripheral pulmonary arteries were too small. In 28 of the 34 patients (82%), overall social activity was limited because...Continue Reading

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Citations

May 30, 2006·International Journal of Cardiology·Kazuo Momma
Feb 15, 2005·Journal of the American College of Cardiology·Luc M BeauchesneVirginia V Michels
Feb 6, 2017·Journal of the American College of Cardiology·Devyani ChowdhuryUNKNOWN American College of Cardiology’s Adult Congenital and Pediatric Cardiology Section’s Ambulatory Pediatric Cardiology Quality
Sep 8, 2017·Congenital Heart Disease·Juan VillafaneThomas J Hougen
Oct 7, 2005·American Journal of Medical Genetics. Part a·Anne S BassettMichael A Gatzoulis
Oct 4, 2007·Cardiology in the Young·Toshio Nakanishi
Nov 27, 2007·Expert Review of Cardiovascular Therapy·Abdullah A Alghamdi, Glen S Van Arsdell
Jul 28, 2006·Journal of Cardiovascular Magnetic Resonance : Official Journal of the Society for Cardiovascular Magnetic Resonance·Adam L Dorfman, Tal Geva
Mar 7, 2021·Seminars in Fetal & Neonatal Medicine·Kevin M BlumChristopher K Breuer
May 25, 2010·The American Journal of Cardiology·Kazuo Momma
Jun 4, 2021·Current Opinion in Genetics & Development·Michael Mortillo, Jennifer G Mulle

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