FBN1 and TGFß1: Molecular mechanisms in the pathogenesis of thoracic aortic aneurysms and dissections

The Familial Non-Syndromic Thoracic Aortic Aneurysms and Dissections maps to Marfan Disease Gene (Fibrillin 1) locus

Genetics of thoracic aortic aneurysm: at the crossroad of transforming growth factor-β signaling and vascular smooth muscle cell contractility.

Aortic aneurysm, including both abdominal aortic aneurysm and thoracic aortic aneurysm, is the cause of death of 1% to 2% of the Western population. This review focuses only on thoracic aortic aneurysms and dissections. During the past decade, the genetic contribution to the pathogenesis of thoracic aortic aneurysms and dissections has revealed perturbed extracellular matrix signaling cascade i...

Genetic Testing for Marfan Syndrome, Thoracic Aortic Aneurysms and Dissections, and Related Disorders

Individual genetic testing for the diagnosis of Marfan syndrome, other syndromes associated with thoracic aortic aneurysms and dissections, and related disorders, and panels comprised entirely of focused genetic testing limited to the following genes: FBN1 and MYH11 (CPT code 81408) and ACTA2, TGFBR1, and TGFBR2 (CPT code 81405) may be considered MEDICALLY NECESSARY, when signs and symptoms of ...

12.04.129 Genetic Testing for Marfan Syndrome, Thoracic Aortic Aneurysms and Dissections, and Related Disorders

Individual Gene Variant Testing Individual genetic testing for the diagnosis of Marfan syndrome, other syndromes associated with thoracic aortic aneurysms and dissections, and related disorders may be considered medically necessary when:  Using established diagnostic criteria the signs and symptoms of a connective tissue disorder are present, but a definitive diagnosis cannot be made without g...

Genetic Testing for Marfan Syndrome, Thoracic Aortic Aneurysms and Dissections, and Related Disorders

Individual genetic testing for the diagnosis of Marfan syndrome, other syndromes associated with thoracic aortic aneurysms and dissections, and related disorders, and panels comprised entirely of focused genetic testing limited to the following genes: FBN1 and MYH11 (CPT code 81408) and ACTA2, TGFBR1, and TGFBR2 (CPT code 81405) may be considered MEDICALLY NECESSARY, when signs and symptoms of ...