Overview
Aneurysm osteoarthritis syndrome, as exemplified in a three-generation family with a novel contiguous gene deletion on chromosome 2p22.3-p22.2, involves thoracic aortic aneurysms alongside musculoskeletal manifestations such as ptosis, malar hypoplasia, and joint deformities, suggesting dysregulation of the TGF-ß pathway. 1Diagnosis
Genetic Testing: Identification of deletions or mutations in genes related to TGF-ß pathway, particularly involving LTBP1.
Imaging: Echocardiography or CT/MRI for thoracic aortic dilation.
Clinical Features: Presence of characteristic musculoskeletal findings including ptosis, malar hypoplasia, high arched palate, retrognathia, pes planus, and hindfoot deformity.
Sleep Studies: Consideration of polysomnography for suspected obstructive sleep apnea.Management
Surgical Intervention: Indicated for significant aortic dilation to prevent rupture.
Orthopedic Support: Management of musculoskeletal deformities with bracing or surgical correction as needed.
Cardiac Monitoring: Regular echocardiograms to monitor aortic root dilation progression.
Multidisciplinary Care: Collaboration with cardiologists, orthopedic surgeons, and geneticists.Special Populations
Pregnancy: Requires careful monitoring of aortic dilation and cardiovascular status; individualized management plans are essential 1.
Pediatrics: Early detection and intervention for musculoskeletal deformities and aortic surveillance are crucial 1.Key Recommendations
Genetic Counseling and Testing for families with suspected thoracic aortic aneurysm syndrome and musculoskeletal anomalies (Evidence: Expert opinion) 1
Regular Cardiovascular Surveillance including echocardiograms for patients with identified genetic mutations affecting TGF-ß pathway (Evidence: Weak) 1
Multidisciplinary Approach involving cardiology, orthopedics, and genetics for comprehensive care (Evidence: Expert opinion) 1References
1 Quiñones-Pérez B, VanNoy GE, Towne MC, Shen Y, Singh MN, Agrawal PB et al.. Three-generation family with novel contiguous gene deletion on chromosome 2p22 associated with thoracic aortic aneurysm syndrome. American journal of medical genetics. Part A 2018. link