BACKGROUND:The prevalence of ventricular septal defects (VSDs), a birth defect in which there is an opening in the wall that separates the left and right ventricles of the heart, seemed to be substantially higher in Delaware compared with the National Birth Defects Prevention Network (NBDPN). The Delaware Birth Defects Registry (BDR) noted their high prevalence of VSDs in comparison with other states.METHODS:A subset of children with a VSD born in 2007 through 2010 was identified from the complete reportable statewide defect list that the BDR creates each year. VSDs were categorized by type of VSD (muscular, perimembranous, conotruncal, or atrioventricular septal defect), by either isolated or complex, and then by spontaneously closed, surgically closed, open but clinically insignificant, lost to follow-up, fetal or neonatal death.RESULTS:The BDR team found a prevalence of VSD of 83.4 per 10,000 including fetal/neonatal deaths. Excluding fetal and neonatal deaths the prevalence was 78.7 per 10,000 live births. Excluding small muscular VSDs, the prevalence in Delaware falls to 25.7 per 10,000.CONCLUSION:The BDR team chose to include all babies with all types of VSDs. Using these criteria Delaware's prevalence of 78.7 was higher than that reported by other states (whose prevalence ranges from 1.6 to 70.0 per 10,000 live births) (National Birth Defects Prevention Network, ). Delaware's prevalence is similar to other states when small muscular VSDs are excluded. Birth Defects Research (Part A) 106:888-893, 2016. © 2016 Wiley Periodicals, Inc.

Aneurysms-osteoarthritis syndrome (AOS) caused by haploinsufficiency of SMAD3 is a recently described cause of syndromic familial thoracic aortic aneurysm and dissection (TAAD). We identified a novel SMAD3 mutation in a patient with hypoplastic left heart syndrome (HLHS) who developed progressive aortic aneurysm requiring surgical replacement of the neoaortic root, ascending aorta, and proximal aortic arch. Family screening for the mutation revealed that his father, who has vascular and skeletal features of AOS, and his brother, who is asymptomatic, also have the pathogenic mutation. This is the first case report of a SMAD3 mutation in a patient with hypoplastic left heart syndrome. This case highlights the importance of genetic testing for known causes of aneurysm in patients with congenital heart disease who develop aneurysmal disease as it may significantly impact the management of those patients and their family members.