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February 2, 2026Annals of Rheumatology and Autoimmunity0 citationsOpen Access

Misleading Neurological Presentation of Undiagnosed Marfan Syndrome: A Case Report

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WRWasim Qasim RajaLBLeyla Kedir BerekaADAssadullah Dahani

Key Points

  • To illustrate a complex case of Marfan syndrome presenting with neurological symptoms and severe cardiovascular issues.
  • Clinical evaluation of symptoms including dizziness and facial numbness.
  • Echocardiography and computed tomography angiography to assess aorta and heart structures.
  • Valve-sparing ascending aortic root replacement surgery performed.
  • Aortic root aneurysm of 6.2 cm and dilated ascending aorta observed via imaging.
  • Significant aortic regurgitation and left ventricular dilation noted prior to surgery.
  • Preserved ventricular function post-operation, but the patient developed sustained ventricular tachycardia requiring cardioversion.

Abstract

Abstract Marfan syndrome (MFS) is an autosomal dominant disorder characterized by multisystem connective tissue involvement, affecting the cardiovascular, skeletal, and ocular systems. Here, we report the case of a 54-year-old male with diabetes and hypertension who presented with dizziness and left-sided facial numbness. Clinical evaluation revealed classic Marfanoid features, and cardiovascular examination identified a diastolic murmur. Echocardiography and computed tomography angiography showed a large aortic root aneurysm (6.2 cm), a dilated ascending aorta (7 cm), significant aortic regurgitation, and severe left ventricular dilation. The patient underwent valve-sparing ascending aortic root replacement (David-V procedure). Postoperative echocardiography revealed preserved ventricular function, but the patient developed sustained ventricular tachycardia, requiring cardioversion. This case highlights the complexity of managing MFS with severe aortic involvement, emphasizing the need for early diagnosis, multidisciplinary care, and postoperative arrhythmia management to prevent life-threatening complications.

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Cite This Study

Raja et al. (2026) studied this question.

synapsesocial.com/papers/6980ffc6c1c9540dea8128a1https://doi.org/10.4103/ara.ara_13_25
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