Genetic Risk for Aortic Aneurysm in Adolescent Idiopathic Scoliosis

Conclusions: Clinically actionable pathogenic mutations in genes associated with adolescent idiopathic scoliosis and aortic aneurysm are rare in patients with adolescent idiopathic scoliosis who are not suspected of having these disorders, although variants of unknown significance are relatively common. Clinical Relevance: Routine genetic screening of all patients with adolescent idiopathic scoliosis for mutations in clinically actionable aortic aneurysm disease genes is not recommended on the basis of the high frequency of variants of unknown significance. Clinical evaluation and family history should heighten indications for genetic referral and testing.
Source: The Journal of Bone and Joint Surgery - Category: Orthopaedics Authors: Tags: Pediatrics, Spine Scientific Articles Source Type: research