Influence of genes and the environment in familial congenital heart defects

Molecular Medicine Reports
Xike WangKun Sun

Abstract

The present study aimed to investigate genetic and environmental factors involved in the pathogenesis of congenital heart disease (CHD). A total of 61 familial pedigrees with CHD were analyzed, and 134 patients out of 761 family members had a diagnosis of CHD confirmed. The present study revealed that the prevalence of CHD in first‑degree relatives (55/249, 22.0%) was significantly higher than that in second‑degree relatives (18/526, 3.4%). Additionally, the recurrence rate of CHD in families in which the patient's mother (12/61) or sister (15/61) had CHD were significantly higher than in cases with the father (6/61) or brother (4/61) having CHD. The subtypes of CHD with increased risk of recurrence were ventricle septal defect (VSD) and atrial septal defect (ASD), followed by patent ductus arteriosus and tetralogy of fallot (TOF). In the 21 sets of twins among the 61 familial pedigrees analyzed, the concordance of both twins affected by CHD in identical and dizygotic twins was 94.4% (17/18) and 33.3% (1/3), respectively. Identical subtypes of CHD were identified in 10 out of 21 sets of twins. Of note, the following pattern was identified in three sets of the twins: One twin had TOF, while the other one had VSD. A risk factor s...Continue Reading

References

Mar 15, 1983·The American Journal of Cardiology·P CoroneD Berthet-Bondet
Nov 11, 1999·European Journal of Epidemiology·K Källén
Mar 27, 2001·Clinics in Perinatology·A J Shillingford, S Weiner
Dec 18, 2001·Current Cardiology Reports·Katy HoessReed E Pyeritz
Jun 27, 2002·Journal of the American College of Cardiology·Julien I E Hoffman, Samuel Kaplan
Feb 3, 2004·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Lorenzo D BottoJ David Erickson
Apr 27, 2004·Birth Defects Research. Part A, Clinical and Molecular Teratology·Maria Luisa Martínez-FríasJaime Luis Frías
Dec 15, 2005·American Journal of Medical Genetics. Part a·Ilona Autti-RämöH Eugene Hoyme
Nov 9, 2006·European Journal of Pediatrics·Giulio CalcagniBruno Marino
Feb 22, 2008·Nature·Benoit G Bruneau
Jul 15, 2009·Circulation·Nina ØyenMads Melbye
Feb 27, 2010·Current Opinion in Cardiology·Michael Wolf, Craig T Basson
Sep 30, 2010·Genetic Testing and Molecular Biomarkers·Tanya L ButlerDavid S Winlaw
Nov 15, 2011·Journal of the American College of Cardiology·Denise van der LindeJolien W Roos-Hesselink
Oct 2, 2012·Cardiology in the Young·Xike WangKun Sun

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Citations

Feb 2, 2018·Circulation·Emelia J BenjaminUNKNOWN American Heart Association Council on Epidemiology and Prevention Statistics Committee and Stroke Statistics Subcommittee
Mar 18, 2017·Circulation Research·Samir Zaidi, Martina Brueckner
Feb 1, 2019·Circulation·Emelia J BenjaminUNKNOWN American Heart Association Council on Epidemiology and Prevention Statistics Committee and Stroke Statistics Subcommittee
Sep 5, 2019·Diseases·Dillon K JarrellJeffrey G Jacot
Sep 13, 2019·Genesis : the Journal of Genetics and Development·Zhengshan ZhaoGuoying Huang
Jan 30, 2020·Circulation·Salim S ViraniUNKNOWN American Heart Association Council on Epidemiology and Prevention Statistics Committee and Stroke Statistics Subcommittee
Jan 1, 2017·Environmental Science and Pollution Research International·Qianhong LiangXiaodan Wang
Sep 14, 2017·International Journal of Molecular Medicine·Xin YiDing-Sheng Jiang
May 21, 2020·Italian Journal of Pediatrics·Cheng XuXuming Mo
Dec 18, 2015·International Journal of Molecular Medicine·Cai-Xia LuYi-Qing Yang
Jan 28, 2021·Circulation·Salim S ViraniUNKNOWN American Heart Association Council on Epidemiology and Prevention Statistics Committee and Stroke Statistics Subcommittee
Dec 10, 2020·Current Developments in Nutrition·Radha O JoshiPrachi Kukshal

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