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

Circulation. Cardiovascular Genetics
Nicolas J Chin-YeeAnne S Bassett

Abstract

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

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Citations

Dec 15, 2015·International Journal of Cardiology·Gregory CostainAnne S Bassett
Oct 19, 2017·Cardiology in Review·Ari Morgenthau, William H Frishman
Apr 17, 2020·Future Cardiology·Robert J Henning
Jul 15, 2017·NPJ Genomic Medicine·Gregory CostainAnne S Bassett
Nov 7, 2017·European Heart Journal·Sabrina G EllesøeLars A Larsen

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