We investigated the occurrence and the prevalence of GATA4, NKX2.5, ZFPM2/FOG2, GDF1, and ISLET1 gene mutations in a large cohort of individuals with CTD, including tetralogy of Fallot with or without pulmonary atresia (TOF, 178 patients), double outlet right ventricle (DORV, 13 patients), and truncus arteriosus (11 patients).
All 108 fetuses displayed various types of complex CHD, including right ventricular dysplasia with pulmonary atresia (PA), severe Ebstein anomaly, double outlet right ventricle with PA, tetralogy of fallot with PA, single ventricle with PA or aorta atresia, hypoplastic left heart syndrome, and IAA.
We investigated the occurrence and the prevalence of GATA4, NKX2.5, ZFPM2/FOG2, GDF1, and ISLET1 gene mutations in a large cohort of individuals with CTD, including tetralogy of Fallot with or without pulmonary atresia (TOF, 178 patients), double outlet right ventricle (DORV, 13 patients), and truncus arteriosus (11 patients).
We investigated the occurrence and the prevalence of GATA4, NKX2.5, ZFPM2/FOG2, GDF1, and ISLET1 gene mutations in a large cohort of individuals with CTD, including tetralogy of Fallot with or without pulmonary atresia (TOF, 178 patients), double outlet right ventricle (DORV, 13 patients), and truncus arteriosus (11 patients).
However, peri-vascular staining for collagen (p < 0.01) and fibronectin (p = 0.02) represented as the peri-vascular stained area corrected for the vessel lumen area showed significantly decreased levels in the PA, VSD group as compared to controls.