Screening Protocols for Families of Children with CHD

Congenital heart diseases (CHDs) are the most common forms of congenital malformations, affecting 8 per 1000 of live births. Familial association of CHD is further shared with parents and siblings than with other relatives. The types of CHD that may occur among family members may be different; however, most of the patients who are known to have a CHD have, fortunately, no other family members involved with CHD. Screening practices may improve the outcomes of patients who may be initially asymptomatic, but potentially at risk, by detecting them before they move forward to become clinically symptomatic and find themselves imminently in even life-threatening conditions (Fig. 1). The overall cost of undergoing screening using an echocardiogram, for example, with higher probability of detecting a cardiovascular malformation is significantly less compared to the many costs that would arise from management and treatment of complications as a result of undiscovered heart problems. Thus, various cardiac societies have recommended a systematic approach for phenotype screening among first-degree relatives of patients who suffered a sudden “mysterious” death. In this brief overview, we will cover the screening protocols for families with children who are known to have a CHD.