Although previous lnks have been made between congenital heart disease (CHD) and scoliosis, the molecular mechanisms involved in this association are poorly understood. During development, it appears that embryos exhibiting spine deformations resulting in scoliosis also suffer from an array of cardiac defects. Additionally, idiopathic scoliosis in patients with CHD is thought to be a response to a physiological phenomenon such as an enlarged size or abnormal thrust of the heart. Despite the fact that molecular omics data have been accumulated that are relevant to these two independent phenotypes, there appears to be a gap in the literature of over two decades on this matter and no clear correlations of the omics data have been provided. To identify genes involved in CHD and scoliosis, we have performed an analysis of genomic annotations, functional genomics data and text mining, and derived an inferred network of 123 human genes and 175 known gene interactions. Of these, 20 genes are unique to CHD, 11 to scoliosis and 5 genes are common to both abnormalities. These genes are known to be involved in molecular signaling cascades that affect the development of the musculo-skeletal system in humans and have been associated with disorders such as the Marfan or CHARGE syndromes. Our analysis sets the basis upon which investigations of this association can be performed at the molecular level, in order to both further understand the pathology and, in the future, develop suitable therapies for CHD/idiopathic scoliosis patients

There is believed to be a correlation between congenital idiopathic scoliosis and congenital heart disease (CHD). Clinical and cardiological data was recorded for 3538 adolescents suffering from CHD. Data collected included the type of scoliosis; the direction of the curve; the Cobb angle; the number of curves and the presence or not of previous corrective cardiac surgery. Over 30% of the study group were found to suffer from scoliosis and a positive correlation with specific syndromes was also identified. The mean age of the patients was 34.0 +/− 14.0 years. The maximum Cobb angle was 107 degrees while the median was 7.6 degreees. Scoliosis was present in 37/188 (19.7%) was Eisenmenger syndrome (with R-L shunt) and 60/158= 38% with complex cardiac anatomy. There were also 20/103= 19.4% patients with univentricular (Fontan) circulation. Scoliosis was not necessarily related to previous corrective cardiac surgery, contrary to the current assumption in the literature. The hypothesis of common genetic pathway defects expressed both in cardiovascular and musculoskeletal organogenesis was raised and the TGF-beta pathway involvement is speculated.