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  • Perinatal/Neonatal Case Presentation
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Perinatal/Neonatal Case Presentation

Familial recurrence of congenital heart diseases

Abstract

Familial recurrence of congenital heart disease (CHD), in particular, d-transposition of great arteries (d-TGA) is rare. However, there have been several reports in the literature of sibling recurrence of total anomalous pulmonary venous return (TAPVR). This is the first case report in the literature, describing mother to offspring recurrence of d-TGA. We describe two cases of non-syndromic CHD with mother to offspring and sibling recurrence. The first case is an antenatally diagnosed d-TGA on fetal echocardiogram at 25 weeks of gestational age in the offspring of a 30-year-old mother with d-TGA. The second case is a sibling reoccurrence of TAPVR diagnosed antenatally at 30 weeks of gestational age, with supradiaphragmatic TAPVR on fetal echocardiogram in a mother, whose first child was diagnosed with infradiaphragmatic TAPVR in infancy.

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References

  1. Boneva RS, Botto LD, Moore CA, Yang Q, Correa A, Erickson JD . Mortality associated with congenital heart defects in the United States: trends and racial disparities, 1979-1997. Circulation 2001; 103 (19): 2376–2381.

    Article  CAS  Google Scholar 

  2. Burn J, Brennan P, Little J, Holloway S, Coffey R, Somerville J 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.

    Article  CAS  Google Scholar 

  3. Calcagni G . Familial recurrence of congenital heart disease: an overview and review of the literature. Eur J Pediatr 2006; 166 (2): 111.

    Article  Google Scholar 

  4. Becker TA, Van Amber R, Moller JH, Pierpont MEM . Occurrence of cardiac malformations in relatives of children with transposition of the great arteries. Am J Med Genet 1996; 66 (1): 28–32.

    Article  CAS  Google Scholar 

  5. Digilio MC . Complete transposition of the great arteries: patterns of congenital heart disease in familial precurrence. Circulation 2001; 104 (23): 2809.

    Article  CAS  Google Scholar 

  6. De Luca A, Sarkozy A, Consoli F, Ferese R, Guida V, Dentici ML et al. Familial transposition of the great arteries caused by multiple mutations in laterality genes. Heart 2010; 96 (9): 673–677.

    Article  Google Scholar 

  7. Robyr R, Bernard JP, Roume J, Ville Y . Familial diseases revealed by a fetal anomaly. Prenat Diagn 2006; 26 (13): 1224–1234.

    Article  CAS  Google Scholar 

  8. Correa-Villaseñor A, Ferencz C, Boughman JA, Neill CA . Total anomalous pulmonary venous return: familial and environmental factors. Teratology 1991; 44 (4): 415.

    Article  Google Scholar 

  9. Solymar L, Sabel K, Zetterqvist P . Total anomalous pulmonary venous connection in siblings. Acta Pædiatrica 1987; 76 (1): 124–127.

    Article  CAS  Google Scholar 

  10. Bleyl SB . Analysis of a Scottish founder effect narrows the TAPVR-1 gene interval to chromosome 4q12. Am J Med Genet Part A 2006; 140a (21): 2368.

    Article  CAS  Google Scholar 

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Correspondence to S Sivanandam.

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Thammineni, K., Lohr, J., Trefz, M. et al. Familial recurrence of congenital heart diseases. J Perinatol 31, 742–743 (2011). https://doi.org/10.1038/jp.2011.48

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