Reproductive fitness and genetic transmission of tetralogy of Fallot in the molecular age

Circulation. Cardiovascular Genetics
Nicolas J Chin-YeeAnne S Bassett


Individuals with tetralogy of Fallot (TOF) now routinely survive to reproductive age and beyond. Reproductive fitness of adults with TOF and recurrence risks to offspring are of increasing interest in the modern era, especially given recent molecular genetic discoveries. After excluding individuals with known genetic syndromes, 543 unrelated adults with TOF underwent a detailed family history assessment and molecular characterization for rare copy number variations using high-resolution genome-wide microarrays. Men and women with TOF had significantly fewer offspring compared with an age-matched comparison group without congenital heart disease (CHD; P=0.0004). No aspect of rare copy number variation burden was a predictor of decreased reproductive fitness. Corresponding with the advent of modern surgical repairs, reproductive fitness of women began to exceed that of men (P=0.0490). Recurrence risk for CHD in offspring was 4.8%, with no significant differences between men and women with TOF. The risk of severe CHD in offspring (2.3%) far exceeded population expectations (relative risk, 15.6; 95% confidence interval, 7.9-31.0). Most cases of vertical transmission of CHD were not explained by the transmission of a large rare copy...Continue Reading


Oct 1, 1977·Archives of General Psychiatry·N C AndreasenG Winokur
Feb 15, 1990·The American Journal of Cardiology·T M ZellersV V Michels
May 1, 1986·Archives of General Psychiatry·N C AndreasenW Coryell
Jun 1, 1972·Journal of Medical Genetics·A R BoonD F Roberts
Sep 18, 1996·Schizophrenia Research·A S BassettW G Honer
Mar 1, 1997·Journal of Medical Genetics·M C DigilioB Dallapiccola
Jun 27, 2002·Journal of the American College of Cardiology·Julien I E Hoffman, Samuel Kaplan
Jul 6, 2004·Journal of the American College of Cardiology·Gruschen R VeldtmanCarole A Warnes
Nov 27, 2004·The New England Journal of Medicine·Alan E GuttmacherRichard H Carmona
Jan 26, 2005·American Journal of Medical Genetics. Part a·M Cristina DigilioBruno Dallapiccola
Feb 2, 2006·Circulation·Paul KhairyMichael J Landzberg
Jan 15, 2008·International Journal of Cardiology·Wai Lun Alan FungAnne S Bassett
Jun 19, 2008·Cardiology in the Young·Lia M PedersenVibeke E Hjortdal
Aug 9, 2008·Journal of the American College of Cardiology·Adrienne H KovacsCandice K Silversides
Jun 24, 2009·Nature Reviews. Genetics·H Allen Orr
Jul 15, 2009·Circulation·Nina ØyenMads Melbye
Jul 15, 2009·Nature Genetics·Steven C GreenwayChristine E Seidman
Aug 18, 2009·Lancet·Christian ApitzAndrew N Redington
Dec 2, 2009·Journal of Medical Genetics·Ralf RauchAnita Rauch
Jan 22, 2010·World Journal of Surgery·Joanne P Starr
Feb 23, 2010·Circulation. Cardiovascular Genetics·Nina OyenMads Melbye
Feb 27, 2010·Current Opinion in Cardiology·Michael Wolf, Craig T Basson
May 5, 2010·The American Journal of Psychiatry·Anne S BassettLinda M Brzustowicz
May 25, 2010·The American Journal of Cardiology·Kazuo Momma
May 26, 2010·Clinical Genetics·M W Wessels, P J Willems
Jul 6, 2010·International Journal of Cardiology·Gregory CostainAnne S Bassett
Nov 4, 2010·Nature Reviews. Cardiology·Teun van der BomBarbara J M Mulder
Dec 21, 2010·American Heart Journal·Sara PiranCandice K Silversides
Jan 25, 2011·The American Journal of Cardiology·Jodi-Ann M SwabyAnne S Bassett
Feb 4, 2011·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Miranda Wijdenes-PijlNadeem Qureshi
Feb 15, 2011·American Heart Journal·Ali BalciPetronella G Pieper
May 3, 2011·Current Cardiology Reviews·Ashleigh A Richards, Vidu Garg
May 4, 2011·Current Cardiology Reports·Luke BurchillSeema Mital
Sep 4, 2012·American Journal of Human Genetics·Rachel SoemediBernard D Keavney
Sep 13, 2012·PLoS Genetics·Marc-Phillip HitzGregor Andelfinger
Sep 29, 2012·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Alessia DolcettiAnne S Bassett
Feb 16, 2013·Circulation Research·Akl C FahedChristine E Seidman
May 15, 2013·Nature·Samir ZaidiRichard P Lifton

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