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2 results

  • Giant aortic aneurysm repair in a child due to arterial tortuosity syndrome

  • Dominykas Budrys, Virgilijus Tarutis, Karolis Jonas
  • Journal:
    Cardiology in the Young / Volume 34 / Issue 5 / May 2024
    Published online by Cambridge University Press:
    01 April 2024, pp. 1156-1158
    • Article
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  • Arterial tortuosity syndrome is an extremely rare hereditary connective tissue disorder. We present a case of an incidentally diagnosed aneurysm of the aortic root and the ascending aorta caused by arterial tortuosity syndrome, which was confirmed genetically. The aneurysm was repaired surgically. One year after the procedure, there was no further dilation of the aorta or formation of new aneurysms.

  • Chapter 5.1 - Chapter

  • from 5 - Hereditary and Genetic Causes of Stroke
  • Edited by Derya Uluduz, Istanbul Üniversitesi
  • Anita Arsovska
  • Book:
    Rare Causes of Stroke
    Published online:
    06 October 2022
    Print publication:
    01 September 2022, pp 206-211

  • Summary

    Marfan syndrome is a genetically inherited systemic disease of connective tissue, usually characterized by skeletal, cardiovascular and ocular involvement. We present a 44 years-old male, with heart valve and lens subluxation surgery, presented to the outpatient clinic with complaint of weakness on the left side. He was receiving anticoagulant treatment. His parents were second-degree relatives, and his 16-years-old son had aortic valve regurgitation and lens subluxation. The patient was extremely tall and thin with typical musculoskeletal features of Marfan syndrome. These included pectus excavatus deformity, ulnar deviation in both hands, as well as swan neck deformity, long fingers, joint hypermobility, and right-sided scoliosis. Neurological examination revealed irregular pupil on the right, left-sided hemiparesis, hyperreflexia, and piramidal signs on the left side. Brain magnetic resonance imaging showed infarction in the temporo-parietal region of the right hemisphere