Research Overview

Historically, the genetic etiologies of most cardiac malformations/disease had been thought to be too complex to meaningfully tease apart. Counseling has been limited, therefore, to an explanation of a multi-factorial pattern of inheritance and the provision of a general empiric risk for prevalence or recurrence for those affected with congenital cardiovascular disease.

Recently, strides have been made toward a more precise understanding of the molecular pathways involved in cardiovascular development. Current literature suggests that while etiologies remain complex, a number of congenital cardiac malformations can be linked to specific heritable factors. A broad multi-factorial model is gradually being replaced with disease specific models where independent genetic and/or teratogenic pathways may lead to a particular outcome. These genetic pathways include chromosome deletions, disruptions (translocations), duplications of particular genetic regions, point mutations involving single genes, or alteration in the ability for a gene to be transcribed into a functional protein.

Researchers have identified associations between a number of cardiac syndromes and diagnostic molecular findings. Examples include identification of microdeletions of chromosome 7 (Williams syndrome) and chromosome 22 (Velo-cardio-facial syndrome) both of which clinically manifest cardiac and non-cardiac findings. Commercial cytogenetic probes have recently become available for these two genetic disorders, enabling standardized testing.

As the molecular mechanisms underlying cardiovascular development become elucidated, similar scenarios regarding other congenital cardiac disorders will arise. These are likely to have both medical and reproductive implications. With improved surgical palliation of congenital heart disease, caregivers are faced with new challenges associated with childbearing, not the least of which includes recurrence risk. As a result, we have developed a registry (CVG registry) for individuals/families with congenital cardiovascular disease.

For more information about Medical Research, please visit this informational site at Children's Hospital Boston. For a list of research laboratories, please go here.