Condition: Aortic aneurysm, familial thoracic 4


rs267606902 in MYH11 gene and Aortic aneurysm, familial thoracic 4 PMID 17666408 2007 MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II.

rs397514037 in MYH11;NDE1 gene and Aortic aneurysm, familial thoracic 4 PMID 21937134 2013 Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD.

PMID 27611364 2016 Genetic testing of 248 Chinese aortopathy patients using a panel assay.

PMID 16444274 2006 Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus.

rs142546324 in NDE1;MYH11 gene and Aortic aneurysm, familial thoracic 4 PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 16444274 2006 Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus.

PMID 25173340 2014 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC).

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 24882528 2014 Canadian Cardiovascular Society position statement on the management of thoracic aortic disease.