Unveiling an uncommon phenomenon: Locomotor brachialis in conjunction with aortic dilatation and severe aortic regurgitation featuring marfanoid characteristics
Year: 2025
Type: article
Study design: Case Report
Abstract: Marfan Syndrome (MFS) is a hereditary connective tissue disorder characterized by cardiovascular, skeletal, and ocular manifestations. This case report describes a rare presentation of locomotor brachialis in a 57-year-old male with MFS, severe aortic regurgitation, and aortic dilatation. The patient exhibited typical MFS features, including tall stature, arachnodactyly, and pectus carinatum, alongside peripheral signs of severe aortic regurgitation. Imaging revealed significant aortic root dilatation (6.4 cm), mitral valve prolapses, and bilateral pleural effusion. Despite recommendations for surgical intervention, the patient opted for medical management with losartan but succumbed to complications. This report emphasizes the importance of recognizing locomotor brachialis as an indicator of severe cardiovascular involvement in MFS and the need for multidisciplinary care. Early diagnosis and timely surgical intervention remain critical for improving outcomes in MFS patients with significant cardiovascular complications.
Authors: Khadija Hamdulay, Sourya Acharya, Sunil Kumar, Shubham Nimkar, Nitish Batra, Nikhil Pantbalekundri, Avinash Parepalli, Sanchit Chabra
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4412474253