pediatrics
Overview of Congenital Cardiovascular Anomalies
Etiology of Congenital Heart Disease
Environmental and genetic factors contribute to the development of congenital heart disease. , antiseizure drugs). Maternal age is a known risk factor for certain genetic conditions, especially Down Syndrome (Trisomy 21) , that may include cardiac defects. It is unclear whether maternal age is an independent risk factor for congenital heart disease. Paternal age may also be a risk factor ( (aneuploidies), such as trisomy 21 ( Down Syndrome (Trisomy 21) ), ( Microdeletion and Microduplication Syndromes ), subchromosomal duplications, or single-gene mutations. Often, these mutations cause congenital syndromes affecting multiple organs in addition to the heart. Examples include is detected in about 72% of patients with congenital heart disease ( Etiology references ). The recurrence risk of congenital heart disease in a family depends on the cause. Risk is negligible in de novo mutations, 2 to 5% in nonsyndromic multifactorial congenital heart disease, and 50% when an autosomal dominant mutation is the cause. The identification of a bicuspid aortic valve in an individual merits family screening in view of the reported familial prevalence of 9% ( Etiology references ). It is important to identify genetic factors because more patients with congenital heart disease are surviving into adulthood and potentially starting families. 1.Materna-Kiryluk A, Wiśniewska K, Badura-Stronka M, et al: Parental age as a risk factor for isolated congenital malformations in a Polish population.Paediatr Perinat Epidemiol23(1):29-40, 2009. doi: 10.1111/j.1365-3016. 2008.00979.x 2.Russell MW, Chung WK, Kaltman JR, Miller TA: Advances in the understanding of the genetic determinants of congenital heart disease and their impact on clinical outcomes.J Am Heart Assoc7(6):e006906, 2018. doi:10.1161/JAHA.117.006906 3.van der Linde D, Konings EEM, Slager MA, et al: Birth prevalence of congenital heart disease worldwide: a systematic review and meta-analysis.J Am Coll Cardiol58(21):2241–2247, 2011. doi: 10.1016/j.jacc.2011.08.025 4.Pierpont ME, Brueckner M, Chung WK, et al: Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association [published correction appears inCirculation2018 Nov 20;138(21):e713].Circulation138(21):e653–e711, 2018. doi:10.1161/CIR.0000000000000606 5.Freeze SL, Landis BJ, Ware SM, Helm BM: Bicuspid aortic valve: a review with recommendations for genetic counseling.J Genet Couns25(6):1171–1178, 2016. 