Abstract
Transposition of the great arteries (TGA) is the most common cyanotic cardiac malformation, representing 5-7% of all cardiac malformations. Previous estimates of the frequency of cardiac malformations in sibs of probands range from 0-1.7%. This study ascertained the frequency of congenital cardiac malformations in relatives of 271 probands with TGA, who were grouped according to the type of TGA present. These include dextro (d-TGA), levo (l-TGA), complex TGA, and asplenia with TGA. In the d-TGA cases there were 369 sibs, one of whom had a cardiac malformation (0.27%). There were 50 sibs in the l-TGA group, with one sib having a cardiac malformation (2.00%). Cardiac malformations were found in 2 of 143 (1.40%) sibs of the complex TGA index cases, and 1 of 50 (2.00%) sibs in the asplenia with TGA group. The overall recurrence risk of cardiac malformations in sibs of TGA probands was 0.82%. Cardiac malformations in parents of probands were found in 0.29% of d-TGA, 0% of l-TGA, 1.54% of complex TGA, and 0% of asplenia with TGA, giving an overall parental occurrence of 0.55%. This is the first study to provide information on the different types of TGA in evaluating sib occurrence. It provides necessary genetic counseling information...Continue Reading
References
Feb 1, 1978·Circulation·J J Nora, A H Nora
Oct 1, 1978·The American Journal of Cardiology·J I Hoffman, R Christianson
Dec 1, 1975·Teratology·M Yasuda, J R Miller
Aug 1, 1989·Teratology·P H Shiono, M A Klebanoff
Apr 1, 1987·American Journal of Medical Genetics·J A BoughmanC Ferencz
Aug 8, 1985·The New England Journal of Medicine·S Zierler, K J Rothman
Mar 17, 1973·Lancet·E P LevyF C Fraser
Apr 28, 1973·Lancet·J J Nora, A H Nora
Aug 1, 1969·Circulation·J LiebmanN B Belloc
May 22, 1995·American Journal of Medical Genetics·L J Sletten, M E Pierpont
Mar 13, 1995·American Journal of Medical Genetics·S AlonsoJ Demaille
Jan 1, 1995·The American Journal of Cardiology·S MelchiondaB Dallapiccola
Oct 1, 1993·Journal of Medical Genetics·E GoldmuntzB S Emanuel
Feb 1, 1994·Human Genetics·A J CousineauV C Sheffield
Oct 1, 1993·Journal of Medical Genetics·D A DriscollB S Emanuel
Oct 1, 1993·Journal of Medical Genetics·D I WilsonJ Goodship
Dec 1, 1993·Nature Genetics·B CaseyA Ballabio
Citations
Nov 1, 2011·Journal of Perinatology : Official Journal of the California Perinatal Association·K ThammineniS Sivanandam
Apr 9, 2009·American Journal of Medical Genetics. Part a·J HardinG M Shaw
Feb 14, 2007·Human Mutation·Brigitte ChhinPatrice Bouvagnet
Jun 10, 1998·Lancet·M C DigilioB Dallapiccola
Aug 2, 2014·Journal of the American College of Cardiology·Juan VillafañeUNKNOWN American College of Cardiology’s Adult Congenital and Pediatric Cardiology Council
Apr 22, 2008·Critical Care Nursing Clinics of North America·Vicki L Zeigler
Jan 19, 2002·American Journal of Human Genetics·Elizabeth GoldmuntzMaximilian Muenke
Mar 10, 2016·World Journal for Pediatric & Congenital Heart Surgery·Sabrina Gade EllesøeSøren Brunak
Dec 6, 2001·Circulation·M C DigilioB Marino
Jul 21, 2007·Cardiology in the Young·Cécile J PascalJohn M Simpson
May 12, 2012·Der Pathologe·A M Müller, N Sarioglu
Aug 2, 2005·American Journal of Medical Genetics. Part a·Gerardo PiacentiniBruno Marino
Nov 27, 2020·American Journal of Medical Genetics. Part a·Elizabeth I PierpontWilliam B Dobyns