Dextro-transposition of the great arteries (d-TGA) is a common cause of cyanotic heart disease in neonates. Current thought is d-TGA is a sporadic occurrence in families with an unclear etiology. We describe a case of brothers with d-TGA. Genetic testing revealed that both are heterozygous for two gene variations that are associated with congenital heart disease.
ChaixMAAndelfingerGKhairyP. Genetic testing in congenital heart disease: a clinical approach. World J Cardiol. 2016;8(2):180–191.
2.
UnoltMPutottoCSilvestriLM, et al.Transposition of great arteries: new insights into the pathogenesis. Front Pediatr. 2013;1:11.
3.
DigilioMCCaseyBToscanoA, et al.Complete transposition of the great arteries: patterns of congenital heart disease in familial precurrence. Circulation. 2001;104(23):2809–2814.
4.
DigilioMCMarinoBBanaudiEMarasiniMDallapiccolaB. Familial recurrence of transposition of the great arteries. Lancet. 1998;351(9116):1661.
BurnJBrennanPLittleJ, et al.Recurrence risks in offspring of adults with major heart defects: results from first cohort of British collaborative study. Lancet. 1998;351(9099):311–316.
8.
De LucaASarkozyAConsoliF, et al.Familial transposition of the great arteries caused by multiple mutations in laterality genes. Heart. 2010;96(9):673–677.