The Impact of Genetic Diagnosis on Clinical Management of Patients with Congenital Heart Disease: Cilia Point the Way
The first Blalock-Taussig shunt surgery in 1945 changed major congenital heart disease (CHD) from a universally lethal condition into a survivable one1. In the 50 years that followed, rapid progress in anatomic diagnosis via echocardiography, and dramatic improvement in surgical and catheterization techniques, resulted in survival to adulthood and greatly improved quality of life for many individuals with CHD. Despite this, continuing progress in caring for individuals with the most complex forms of CHD has become incremental. One of the particularly frustrating aspects of managing patients with very complex CHD is that the outcomes are highly variable, even when accounting for surgical skill and anatomic complexity. In this issue of Circulation, Nakhleh et al show that a subset of patients with CHD and Heterotaxy has airway ciliary dysfunction that may account for increased morbidity and mortality independent of the complexity of the CHD2. This finding highlights a critical point that will surely affect patient care in the years to come: improving our understanding of the genetic etiology of CHD is likely to impact response to therapy. Individualized therapy for CHD based on the underlying genetics will hopefully contribute to the next major improvement in outcome. (SELECT FULL TEXT TO CONTINUE)
- Received April 2, 2012.
- Accepted April 4, 2012.
- Copyright © 2012, American Heart Association, Inc. All rights reserved. Unauthorized use prohibited