Occurrence of cardiac malformations in relatives of children with transposition of the great arteries

American Journal of Medical Genetics
T A BeckerM E Pierpont

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

Oct 1, 1978·The American Journal of Cardiology·J I Hoffman, R Christianson
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
Apr 28, 1973·Lancet·J J Nora, A H Nora
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·D I WilsonJ Goodship

❮ Previous
Next ❯

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
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
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

❮ Previous
Next ❯

Related Concepts

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.