BACKGROUND The surgical outcome of conotruncal heart defects in patients with genetic syndromes has been poorly studied. The aim of this prospective 5-year multicenter study was to elucidate the post-surgical death rate of children with conotruncal heart defects in relation to the presence of associated genetic syndromes. METHODS Two institutions enrolled 350 consecutive inpatients with conot...

Correspondence to: Dr Arthur A M Wilde, Experimental & Molecular Cardiology Group, Academic Medical Center, Amsterdam, the Netherlands; a.a.wilde@ amc.uva.nl _________________________ O ver the last decade, we have witnessed a revolution in the understanding of primary cardiac arrhythmia syndromes. These remarkable advances stemmed from the discovery of mutations, primarily in ion channel genes...

Genetic factors play a critical role in the pathogenesis of vascular anomalies. Significant advances have been made in recent years in identifying the genetic and molecular determinants of a variety of vascular anomalies using a molecular genetic approach. Several genes for vascular anomalies have been identified. These genes include AGGF1 for Klippel-Trenaunay syndrome, RASA1 for capillary mal...

Rapid developments in the elucidation of simple Mendelian traits in humans, the complexity of genotype-phenotype relationships, and the growing appreciation of complex genetic traits have conspired to focus interest on the role of modifier genes in humans. This paper reviews categories of genetic modifiers and their effects and then discusses non-Mendelian inheritance patterns involving modifie...