Genetic testing for congenital heart disease

By: Stephen R. Daniels

Posted on: December 15, 2020

Genetic testing for congenital heart disease

It is well understood that there is an important genetic component to the development of critical congenital heart disease. However, the genetics are complex and there is still much to be learned about genotype-phenotype relationships. In this volume of The Journal, Shikany et al report on an analysis of 293 infants with congenital heart disease, 213 of whom had isolated congenital heart diseases and 80 of whom who had multiple congenital anomalies. The yield of genetic testing was 39% in those with multiple congenital anomalies and 20% in those with isolated congenital heart disease.

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