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Background <p>Carotid artery dissection (CAD) is a significant cause of ischemic stroke in young and middle-aged adults. While traumatic triggers are well-recognized, many dissections occur spontaneously and may be linked to hereditary connective tissue disorders (CTDs) that impair vascular wall integrity. Stickler syndrome and Loeys-Dietz syndrome are two rare CTDs with distinct genetic underpinnings, where vascular complications are either underreported (Stickler) or common (Loeys-Dietz).</p> Methods <p>We describe two rare cases of internal carotid artery dissection in patients with genetically confirmed Stickler syndrome and clinically diagnosed Loeys-Dietz syndrome. Clinical presentation, imaging findings, treatment strategies, and outcomes were reviewed.</p> Results <p>The first patient, a 64-year-old man with Stickler syndrome, presented with acute stroke symptoms and was found to have a left ICA dissection with MCA occlusion. He underwent successful mechanical thrombectomy with partial neurological improvement. The second patient, a 61-year-old woman with Loeys-Dietz syndrome, presented with progressive headache and right arm pain. Imaging revealed a right ICA dissection with subclavian artery aneurysm, treated with open thrombectomy and endovascular repair.</p> Conclusion <p>These cases highlight the importance of considering underlying CTDs in patients presenting with spontaneous carotid dissection. Genetic evaluation and vascular screening should be pursued in patients with clinical features suggestive of CTDs, as early recognition may guide preventive strategies and reduce stroke risk.</p>

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Carotid Artery Dissection in Stickler and Loeys-Dietz Syndromes: A Case-Based Review of Vascular Risk in Heritable Connective Tissue Disorders

  • 期刊论文

  • 发表日期：

    2025年9月13日

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  • Sangharsha Thapa,
  • Kalimullah Jan,
  • Maryia Kazlouskaya,
  • Damla Atkes Gulko,
  • Ji Chong

摘要

Background

Carotid artery dissection (CAD) is a significant cause of ischemic stroke in young and middle-aged adults. While traumatic triggers are well-recognized, many dissections occur spontaneously and may be linked to hereditary connective tissue disorders (CTDs) that impair vascular wall integrity. Stickler syndrome and Loeys-Dietz syndrome are two rare CTDs with distinct genetic underpinnings, where vascular complications are either underreported (Stickler) or common (Loeys-Dietz).

Methods

We describe two rare cases of internal carotid artery dissection in patients with genetically confirmed Stickler syndrome and clinically diagnosed Loeys-Dietz syndrome. Clinical presentation, imaging findings, treatment strategies, and outcomes were reviewed.

Results

The first patient, a 64-year-old man with Stickler syndrome, presented with acute stroke symptoms and was found to have a left ICA dissection with MCA occlusion. He underwent successful mechanical thrombectomy with partial neurological improvement. The second patient, a 61-year-old woman with Loeys-Dietz syndrome, presented with progressive headache and right arm pain. Imaging revealed a right ICA dissection with subclavian artery aneurysm, treated with open thrombectomy and endovascular repair.

Conclusion

These cases highlight the importance of considering underlying CTDs in patients presenting with spontaneous carotid dissection. Genetic evaluation and vascular screening should be pursued in patients with clinical features suggestive of CTDs, as early recognition may guide preventive strategies and reduce stroke risk.