Genetic factors undoubtedly affect the development of congenital heart disease (CHD) but still remain ill defined. We sought to identify genetic risk factors associated with CHD and to accomplish a functional analysis of SNP-carrying genes. We performed a genome-wide association study (GWAS) of 4034 White patients with CHD and 8486 healthy controls. One SNP on chromosome 5q22.2 reached genome-wide significance across all CHD phenotypes and was also indicative for septal defects. One region on chromosome 20p12.1 pointing to the MACROD2 locus identified 4 highly significant SNPs in patients with transposition of the great arteries (TGA). Three highly significant risk variants on chromosome 17q21.32 within the GOSR2 locus were detected in patients with anomalies of thoracic arteries and veins (ATAV). Genetic variants associated with ATAV are suggested to influence the expression of WNT3, and the variant rs870142 related to septal defects is proposed to influence the expression of MSX1. We analyzed the expression of all 4 genes during cardiac differentiation of human and murine induced pluripotent stem cells in vitro and by single-cell RNA-Seq analyses of developing murine and human hearts. Our data show that MACROD2, GOSR2, WNT3, and MSX1 play an essential functional role in heart development at the embryonic and newborn stages.

Objective: To evaluate the feasibility and usefulness of the Cheatham platinum (CP) stent in a broad spectrum of lesions. Methods: Retrospective analysis of 60 implanted CP stents (11–80 mm lengths, 12 covered) between September 2001 and March 2004. Patients: 53 patients aged 2.5–68 years (median 17 years). Body weight ranged from 12–95 kg (median 52 kg). Thirty six patients had aortic (re)coarctation; seven of them had functionally interrupted aortic arches. Thirteen patients had pulmonary artery stenosis and four had stenosis of caval veins or conduits in a total cavopulmonary connection (TCPC). Results: Arterial pressure gradients dropped from 33 mm Hg (range 20–80 mm Hg) to 5 mm Hg (range 0–10 mm Hg) and pressure gradients in TCPC or caval veins dropped from 4 mm Hg (range 4–20 mm Hg) to 0 mm Hg (range 0–3 mm Hg). All stents were placed in the target lesion without complications. Three stent fractures without clinical instability were noted. Conclusions: The CP stent is suitable for the treatment of vessel stenosis in congenital heart diseases from childhood to adulthood. Whether these good results will be stable in the long term needs to be investigated.

Background —In an effort to reduce x-ray exposure, we developed a technique for transcatheter closure of atrial septal defects under echocardiographic guidance without fluoroscopy. To assess the efficiency of this procedure for routine use, we compared our initial results with those for the conventional procedure. Methods and Results —Twenty-two randomly selected patients (median age 18 years; range 2 to 66 years) with atrial septal defects (n=13) or patent foramen ovale (n=9) underwent cardiac catheterization for possible interventional defect closure with echocardiography as the only imaging tool. Median stretched diameter was 9 mm (range 6 to 26 mm); median left-to-right shunt over the atrial septal defects was Qp/Qs=1.8 (range 1.5 to 2.6). An Amplatzer septal occluder was successfully implanted in 19 defects without fluoroscopy and in 3 with the help of radiography. After 1 month, complete defect closure was documented in all patients. Compared with the conventional procedure of a control group of 131 patients, procedure times were not significantly different (88 versus 100 minutes; P =0.09). However, the study group received significantly higher doses of propofol for sedation (9.9 versus 5.6 mg/kg body weight; P =0.002) owing to extended transesophageal echocardiography. Conclusions —In the majority of patients in whom transcatheter closure of interatrial communications with the Amplatzer septal occluder is possible, the procedure can be safely performed under echocardiographic guidance without fluoroscopy.