Physical Therapy & Rehabilitation Science
DPT (Doctor of Physical Therapy)
Session and Year of Graduation
Laura Frey Law
Background: Loeys-Dietz Syndrome (LDS) is a rare heritable connective tissue disorder characterized by aortic root aneurysm, arterial tortuosity, hypertelorism, and uvular anomalies. Signs and symptoms vary widely, and overlap considerably with Marfan Syndrome, Ehlers-Danlos Syndrome vascular-type, and Shprintzen Goldberg syndrome. Evidence is sparse to guide optimal physical therapy management for individuals with LDS. The purpose of this case report is to highlight the clinical decision making regarding physical therapy management for an adolescent with LDS. It also is to increase awareness and understanding of LDS. Case Description: A 14 year old male recently diagnosed with LDS presented to an outpatient physical therapy clinic per physician referral to improve shoulder and general joint stability. The patient demonstrated generalized joint hypermobility and muscle weakness, minimal functional impairment, and no pain. Intervention: A low to moderate intensity whole-body home exercise program with static and dynamic components was prescribed 3-4 times per week over 4 session, and a lifestyle of low to moderate intensity aerobic exercise was encouraged. No adverse events were reported. Discussion: Clinicians are cautious to prescribe moderate to high intensity static or dynamic exercise, and sports participation, for patients with thoracic aortic disease (TAD). High-quality evidence to support this is lacking; however, these activities should be avoided due to theoretical concerns of increasing risk of aortic dissection in this population. Clinical recommendations include educating about the risks and benefits of exercise and sports participation, and disseminating current evidence and guidelines, to empower patients and families to make informed decisions.
Physical therapy, exercise prescription, Loeys-Dietz Syndrome, thoracic aortic disease, heritable connective tissue disorders, aortic root aneurysm
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