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Purpose of Review <p>This review summarizes current knowledge on Loeys-Dietz syndrome (LDS), including its genetic basis, multisystem manifestations, diagnosis, surveillance, and management. It also highlights key evidence gaps in risk stratification, medical therapy, imaging surveillance, surgical thresholds, and care of pregnant and pediatric patients.</p> Recent Findings <p>Although understanding of the genetic basis and clinical spectrum of LDS has improved, LDS-specific evidence remains limited. LDS is increasingly recognized as a multisystem disorder with aggressive aortic disease, extra-aortic vascular involvement, skeletal, craniofacial, allergic, gastrointestinal, and neurodevelopmental manifestations. Current recommendations are largely based on expert consensus and experience with related connective tissue disorders. Most available research focuses on the aortic root and ascending aorta, with less evidence guiding management of peripheral vascular disease.</p> Summary <p>LDS requires early diagnosis, individualized risk assessment, and multidisciplinary longitudinal care supported by genetic evaluation, biomarker-based approaches, multimodality imaging, and structured surveillance. Future research should focus on multicenter registries, genotype–phenotype correlations, biomarker validation, advanced imaging, and LDS-specific therapeutic studies to develop evidence-based guidelines and improve long-term outcomes.</p>

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Diagnosis and Management of Loeys-Dietz Syndrome: Evidence Gaps and Future Directions

  • 期刊论文

  • 发表日期：

    2026年6月23日

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  • Hesham M. Abdalla,
  • Mahmoud Abdelnabi,
  • Ahmed Khedr,
  • Fares Jamal,
  • Karldon Iwuchukwu Nwaezeapu,
  • Mohammed Alaa Raslan,
  • Ramzi Ibrahim,
  • Hoang Nhat Pham,
  • Girish Pathangey,
  • Hussein Abdul Nabi,
  • Luke Dreher,
  • Mayowa A. Osundiji,
  • Thais D. Coutinho,
  • Reza Arsanjani,
  • Fadi Shamoun,
  • Chadi Ayoub

摘要

Purpose of Review

This review summarizes current knowledge on Loeys-Dietz syndrome (LDS), including its genetic basis, multisystem manifestations, diagnosis, surveillance, and management. It also highlights key evidence gaps in risk stratification, medical therapy, imaging surveillance, surgical thresholds, and care of pregnant and pediatric patients.

Recent Findings

Although understanding of the genetic basis and clinical spectrum of LDS has improved, LDS-specific evidence remains limited. LDS is increasingly recognized as a multisystem disorder with aggressive aortic disease, extra-aortic vascular involvement, skeletal, craniofacial, allergic, gastrointestinal, and neurodevelopmental manifestations. Current recommendations are largely based on expert consensus and experience with related connective tissue disorders. Most available research focuses on the aortic root and ascending aorta, with less evidence guiding management of peripheral vascular disease.

Summary

LDS requires early diagnosis, individualized risk assessment, and multidisciplinary longitudinal care supported by genetic evaluation, biomarker-based approaches, multimodality imaging, and structured surveillance. Future research should focus on multicenter registries, genotype–phenotype correlations, biomarker validation, advanced imaging, and LDS-specific therapeutic studies to develop evidence-based guidelines and improve long-term outcomes.