Publication Date
3-27-2026
DOI
10.31986/issn.2578.3343_vol7iss1.2
First Page
8
Last Page
11
Abstract
Abstract
The pre-participation school or sports physical, introduced in the mid-20th century, remains a cornerstone of adolescent health screening, primarily aimed at ensuring athletic safety. While most evaluations reveal benign conditions, these encounters occasionally uncover critical yet asymptomatic disorders. This report highlights the incidental discovery of Loeys–Dietz syndrome (LDS) type 4 in a 17-year-old male during a routine sports physical, underscoring the clinical value of thorough cardiovascular assessment and recognition of subtle phenotypic cues in preventive settings.
Significance: Loeys–Dietz syndrome is a rare, autosomal dominant connective tissue disorder affecting fewer than 1 in 100,000 individuals, often misdiagnosed as Marfan syndrome due to overlapping phenotypic features.
This article reviews the genetic basis, clinical presentation, and management of LDS, focusing on its cardiovascular implications. Literature was identified through a targeted search of PubMed and Google Scholar using the keywords Loeys–Dietz syndrome, TGFB mutations, aortic aneurysm, and sports physical screening. The collected research emphasizes the importance of early identification, given the high risk of arterial aneurysm and dissection at smaller diameters and younger ages. A multidisciplinary approach—combining genetic testing, vigilant imaging, and prophylactic surgical thresholds—is essential for optimizing outcomes and preventing catastrophic vascular events in affected individuals.
Recommended Citation
Varnika, FNU; Dihel, Anastasia; Bereisha, Michael; and Taheri, Nergess
(2026)
"The importance of Sports Physical Leading to the Diagnosis of Loeys–Dietz Syndrome,"
Cooper Rowan Medical Journal: Vol. 7:
Iss.
1, Article 2.
DOI: 10.31986/issn.2578.3343_vol7iss1.2
Available at:
https://rdw.rowan.edu/crjcsm/vol7/iss1/2
Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.
