Heart to heart: challenges and perspectives for genetic research in congenital heart disease.

摘要

The advent of novel and innovative genetic analysis techniques in congenital heart disease (CHD), including the deciphering of individual genomes, is likely to lead to a paradigm shift in medicine. In this article, we challenge current views of congenital cardiac malformations as being either monogenic or due to common variants, succinctly summarize recent developments in the field and outline the promises and challenges that lies ahead. Most cases of CHD occur in a sporadic fashion and are of unknown cause. Diagnostic and therapeutic approaches are primarily based on anatomical and physiological considerations, with advances in pediatric cardiac care now allowing surgical repair in infants with even the most complex malformations, at a low mortality risk. These advances have resulted in a major shift in population demographics. Declining mortality rates in the young have translated into adults now outnumbering children with CHD [1]. Despite these successes, the lack of knowledge regarding the underlying etiology of CHD hinders our ability to predict or modify the disease course or to develop preventive (primary prevention) or early interventional (secondary prevention) strategies.