Echocardiography and MRI parameters associated with exercise capacity in patients after the arterial switch operation.

Background: The arterial switch operation (ASO) for transposition of the great arteries has excellent survival, but a substantial number of patients suffer from a reduced exercise capacity. The goal of this study was to identify imaging parameters associated with a reduced exercise capacity in patients after ASO.

Methods: A retrospective analysis was performed of ASO patients who underwent cardiopulmonary exercise testing (CPET) between 2007 and 2017.

Left ventricular function and exercise capacity after arterial switch operation for transposition of the great arteries: a systematic review and meta-analysis.

Background: The arterial switch operation for transposition of the great arteries was initially believed to be an anatomical correction. Recent evidence shows reduced exercise capacity and left ventricular function in varying degrees in the long term after an arterial switch operation.

Objective: To perform a meta-analysis on long-term exercise capacity and left ventricular ejection fraction after an arterial switch operation.

Dominant missense mutations in ABCC9 cause Cantú syndrome.

Cantú syndrome is characterized by congenital hypertrichosis, distinctive facial features, osteochondrodysplasia and cardiac defects. By using family-based exome sequencing, we identified a de novo mutation in ABCC9. Subsequently, we discovered novel dominant missense mutations in ABCC9 in 14 of the 16 individuals with Cantú syndrome examined.