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Background <p>Loeys-Dietz syndrome (LDS) is a rare genetic disorder characterized by profound systemic vascular vulnerability, with complex neurovascular manifestations that remain incompletely understood. This systematic review aimed to comprehensively map the spectrum of neurovascular complications in LDS, synthesize existing literature, identify potential genetic and phenotypic correlations contributing to disease severity, and present our case report to illustrate real-world clinical challenges and management complexities.</p> Methods <p>Following PRISMA guidelines, a comprehensive literature search was conducted across PubMed, Scopus, Web of Science, and Cochrane Library from database inception to March 2025. Studies were systematically screened using predefined inclusion/exclusion criteria. The Joanna Briggs Institute Critical Appraisal Checklists were employed for quality assessment.</p> Results <p>Twenty-five studies, including 13 retrospective cohort studies and 12 case reports, were ultimately included. The review revealed a significant neurovascular disease burden in LDS. Intracranial aneurysm prevalence ranged from 19.4 to 30%, with an average size of 3.6&#xa0;mm. Genetic mutations in TGFBR1, TGFBR2, and SMAD3 genes were strongly associated with vascular complications. Arterial dissections were documented in 22.2% of patients, with neurovascular events spanning pediatric to adult populations. Our case report illustrated the syndrome’s complex multisystemic manifestations, demonstrating bilateral embolic infarcts with hemorrhagic components.</p> Conclusions <p>This systematic review provides a comprehensive characterization of neurovascular complications in LDS, emphasizing the critical need for specialized, genetic-specific risk stratification and longitudinal monitoring. The findings underscore the complex relationship between genetic mutations and vascular pathophysiology, highlighting potential molecular intervention strategies.</p>

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Neurovascular complications in Loeys-Dietz syndrome: a comprehensive systematic review and case report

  • 期刊论文

  • 发表日期：

    2025年8月11日

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  • Mohammed Maan Al-Salihi,
  • Maryam Sabah Al-Jebur,
  • Noor Mozahem,
  • Kelly Nicol,
  • Ahmed Abd Elazim,
  • Ali Ayyad,
  • Ram Saha

摘要

Background

Loeys-Dietz syndrome (LDS) is a rare genetic disorder characterized by profound systemic vascular vulnerability, with complex neurovascular manifestations that remain incompletely understood. This systematic review aimed to comprehensively map the spectrum of neurovascular complications in LDS, synthesize existing literature, identify potential genetic and phenotypic correlations contributing to disease severity, and present our case report to illustrate real-world clinical challenges and management complexities.

Methods

Following PRISMA guidelines, a comprehensive literature search was conducted across PubMed, Scopus, Web of Science, and Cochrane Library from database inception to March 2025. Studies were systematically screened using predefined inclusion/exclusion criteria. The Joanna Briggs Institute Critical Appraisal Checklists were employed for quality assessment.

Results

Twenty-five studies, including 13 retrospective cohort studies and 12 case reports, were ultimately included. The review revealed a significant neurovascular disease burden in LDS. Intracranial aneurysm prevalence ranged from 19.4 to 30%, with an average size of 3.6 mm. Genetic mutations in TGFBR1, TGFBR2, and SMAD3 genes were strongly associated with vascular complications. Arterial dissections were documented in 22.2% of patients, with neurovascular events spanning pediatric to adult populations. Our case report illustrated the syndrome’s complex multisystemic manifestations, demonstrating bilateral embolic infarcts with hemorrhagic components.

Conclusions

This systematic review provides a comprehensive characterization of neurovascular complications in LDS, emphasizing the critical need for specialized, genetic-specific risk stratification and longitudinal monitoring. The findings underscore the complex relationship between genetic mutations and vascular pathophysiology, highlighting potential molecular intervention strategies.