TMEM260 and ventricular septal defect: These results suggest that the c.1617del variant of TMEM260 may be more specifically associated with the cardiovascular phenotype than other phenotypes of SHDRA, making the homozygous c.1617del variant of TMEM260, in particular, a genetic cause for isolated PTA or isolated PA-VSD in a few cases, in an autosomal recessive manner.