CASE REPORT
Undiagnosed Marfan Syndrome During Military Enlistment: Challenges for Medical Qualification and a Brief Clinical Review
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1
Department of Thoracic Surgery and Thoracic Endoscopy, Ruhrlandklinik, West German Lung Center, University Hospital Essen, University Duisburg-Essen Essen, Germany
2
Department of Pneumonology, 401 General Military Hospital of Athens, Athens, Greece
3
Department of Cardiothoracic and Vascular Surgery, Westpfalz Klinikum, Kaiserslautern, Germany
4
Department of Pulmonology, Internal Medicine II, Vienna University Hospital, Vienna, Austria
5
Department of Thoracic Surgery, Asklepios Lung Clinic Munich-Gauting, Gauting, Germany
6
Department of General and Visceral Surgery, Marienhospital Stuttgart, Stuttgart, Germany
7
Department of General Surgery, Patras University Hospital, Patras, Greece
8
Department of Oncology, Patras University Hospital, Patras, Greece
9
Department of General Surgery, General Hospital of Lamia, Lamia, Greece
Submission date: 2025-04-06
Final revision date: 2025-05-13
Acceptance date: 2025-05-14
Online publication date: 2025-12-08
KEYWORDS
TOPICS
ABSTRACT
Introduction:
Marfan syndrome, an inheritable connective tissue disorder, engenders multifaceted systemic effects, impacting the musculoskeletal, ocular, cardiovascular, neurological, cutaneous, and respiratory systems. Its prevalence ranges from 1 : 5000 to 1 : 10,000 individuals, with approximately 25% of cases attributed to spontaneous genetic mutations. In the United States, an estimated 50,000 individuals are affected, and an additional 200,000 individuals exhibit related connective tissue disorders.
Aim:
Here, we present a compelling case of a young soldier who enlisted in our Military Training Center, wherein a previously undiagnosed Marfan syndrome came to light.
Case study:
Notably, a strong family history of the syndrome was evident. Clinical manifestations included pectus excavatum necessitating surgical intervention, an upper-to-lower segment ratio (ULSR) less than 0.86, a span-to-height ratio exceeding 1.05, wrist and thumb signs, scoliosis exceeding 20°, and mitral valve prolapse. Notably, no clinical anomalies about the patient's pulmonary or cutaneous systems were detected.
Results and discussion:
While considerable advancements have been made in comprehending the pathogenesis, the diagnostic protocol for Marfan syndrome remains rooted in the Ghent criteria, mandating a thorough evaluation of multiple organ systems.
Conclusions:
Consequently, the patient was deemed unsuitable for Special Forces deployment and was enlisted as an auxiliary service member, overseen by the Medical Department of the Military Center. Post-discharge, we strongly advocate routine follow-up visits with a family physician to ensure comprehensive medical surveillance.
FUNDING
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