A novel SMAD6 variant in a patient with severely calcified bicuspid aortic valve and thoracic aortic aneurysm.

Jong Eun ParkJin Seok ParkShin Yi JangSeok Hee ParkJong-Won KimChang-Seok KiDuk-Kyung Kim

Published in: Molecular genetics & genomic medicine (2019)

In conclusion, we identified a novel SMAD6 variant causing a severely calcified BAV and TAA, which contributes to our understanding of the clinical and genetic background of SMAD6-related BAV.

Keyphrases

aortic valve
transforming growth factor
epithelial mesenchymal transition
aortic stenosis
aortic aneurysm
transcatheter aortic valve replacement
aortic valve replacement
transcatheter aortic valve implantation
spinal cord
case report
genome wide
ejection fraction
left ventricular
dna methylation
copy number