Heart failure and sudden cardiac death in heritable thoracic aortic disease caused by pathogenic variants in the SMAD3 gene.
Julie De BackerAlan C BravermanPublished in: Molecular genetics & genomic medicine (2018)
These unusual presentations warrant awareness for myocardial disease in patients harboring pathogenic variants in genes causing Heritable Thoracic Aortic Disease and indicate the need for prospective studies in larger cohorts.
Keyphrases
- heart failure
- left ventricular
- copy number
- aortic valve
- spinal cord
- genome wide
- ejection fraction
- pulmonary artery
- newly diagnosed
- epithelial mesenchymal transition
- dna methylation
- transforming growth factor
- coronary artery
- pulmonary hypertension
- patient reported outcomes
- signaling pathway
- aortic dissection
- genome wide analysis