TGFBR1 Variants Can Associate with Non-Syndromic Congenital Heart Disease without Aortopathy
Manal Alaamery,
Nour Albesher,
Fahad Alhabshan
et al.
Abstract:Background: Congenital heart diseases (CHD) are the most common congenital malformations in newborns and remain the leading cause of mortality among infants under one year old. Molecular diagnosis is crucial to evaluate the recurrence risk and to address future prenatal diagnosis. Here, we describe two families with various forms of inherited non-syndromic CHD and the genetic work-up and resultant findings. Methods: Next-generation sequencing (NGS) was employed in both families to uncover the genetic cause. In… Show more
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