Genetic Risk for Aortic Aneurysm in Adolescent Idiopathic Scoliosis

The Journal of Bone and Joint Surgery. American Volume
Gabe HallerMatthew B Dobbs

Abstract

Scoliosis is a feature of several genetic disorders that are also associated with aortic aneurysm, including Marfan syndrome, Loeys-Dietz syndrome, and type-IV Ehlers-Danlos syndrome. Life-threatening complications of aortic aneurysm can be decreased through early diagnosis. Genetic screening for mutations in populations at risk, such as patients with adolescent idiopathic scoliosis, may improve recognition of these disorders. The coding regions of five clinically actionable genes associated with scoliosis (COL3A1, FBN1, TGFBR1, TGFBR2, and SMAD3) and aortic aneurysm were sequenced in 343 adolescent idiopathic scoliosis cases. Gene variants that had minor allele frequencies of <0.0001 or were present in human disease mutation databases were identified. Variants were classified as pathogenic, likely pathogenic, or variants of unknown significance. Pathogenic or likely pathogenic mutations were identified in 0.9% (three) of 343 adolescent idiopathic scoliosis cases. Two patients had pathogenic SMAD3 nonsense mutations consistent with type-III Loeys-Dietz syndrome and one patient had a pathogenic FBN1 mutation with subsequent confirmation of Marfan syndrome. Variants of unknown significance in COL3A1 and FBN1 were identified in 5....Continue Reading

References

Jan 21, 2014·Advances in Experimental Medicine and Biology·Jason R Cook, Francesco Ramirez

❮ Previous
Next ❯

Citations

May 11, 2010·Thoracic Surgery Clinics·Eugenio PompeoTommaso C Mineo
Feb 3, 2018·Human Mutation·Dorien SchepersBart Loeys
Feb 26, 2019·Journal of Medical Genetics·Brooke SadlerChristina A Gurnett
Aug 5, 2017·Journal of Pediatric Orthopedics. Part B·Gabe HallerMatthew B Dobbs

❮ Previous
Next ❯

Related Concepts

Related Feeds

Cardiac Aneurysm

Aneurysm refers to a bulge of the wall or lining of a vessel commonly occurring in the blood vessels at the base of the septum or within the aorta. In the heart, it usually arises from a patch of weakened tissue in a ventricular wall, which swells into a bubble filled with blood. Discover the latest research on cardiac aneurysm here.

Aortic Aneurysm

An aortic aneurysm is the weakening and bulging of the blood vessel wall in the aorta. This causes dilatation of the aorta, which is usually asymptomatic but carries the risk of rupture and hemorrhage. Find the latest research on aortic aneurysms here.