Rare copy number variants contribute to congenital left-sided heart disease

Left-sided congenital heart disease (CHD) encompasses a spectrum of malformations that range from bicuspid aortic valve to hypoplastic left heart syndrome. It contributes significantly to infant mortality and has serious implications in adult cardiology. Although left-sided CHD is known to be highly heritable, the underlying genetic determinants are largely unidentified. In this study, we sought to determine the impact of structural genomic variation on left-sided CHD and compared multiplex families (464 individuals with 174 affecteds (37.5%) in 59 multiplex families and 8 trios) to 1,582 well-phenotyped controls. 73 unique inherited or de novo CNVs in 54 individuals were identified in the left-sided CHD cohort. After stringent filtering, our gene inventory reveals 25 new candidates for LS-CHD pathogenesis, such as SMC1A, MFAP4, and CTHRC1, and overlaps with several known syndromic loci. Conservative estimation examining the overlap of the prioritized gene content with CNVs present only in affected individuals in our cohort implies a strong effect for unique CNVs in at least 10% of left-sided CHD cases. Enrichment testing of gene content in all identified CNVs showed a significant association with angiogenesis. In this first family-based CNV study of left-sided CHD, we found that both co-segregating and de novo events associate with disease in a complex fashion at structural genomic level. Often viewed as an anatomically circumscript disease, a subset of left-sided CHD may in fact reflect more general genetic perturbations of angiogenesis and/or vascular biology

The mediating role of psychological need satisfaction in relationships between types of passion for sport and athlete burnout

Research indicates that obsessive and harmonious passion can explain variability in burnout through various mediating processes (e.g., Vallerand, Paquet, Phillippe, & Charest, 2010). The current study extended previous research (Curran, Appleton, Hill, & Hall, 2011; Gustafsson, Hassmén, & Hassmén, 2011) by testing a model in which the effects of passion for sport on athlete burnout were mediated by psychological need satisfaction. One hundred and seventy-three academy soccer players completed self-report measures of passion for sport, psychological need satisfaction, and athlete burnout. Results indicated that psychological need satisfaction mediated the relationship between harmonious passion and athlete burnout but not obsessive passion and athlete burnout. The findings indicate that the inverse relationship between harmonious passion and burnout can be explained by higher levels of psychological need satisfaction. However, this was not the case for obsessive passion, which was not associated with psychological need satisfaction or most symptoms of athlete burnout