ReviewInternational journal of environmental research and public health2023
Genetic Basis, New Diagnostic Approaches, and Updated Therapeutic Strategies of the Syndromic Aortic Diseases: Marfan, Loeys-Dietz, and Vascular Ehlers-Danlos Syndrome.
Review in International journal of environmental research and public health, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed.
- Genetic and molecular mechanisms of hereditary thoracic aortic aneurysm and dissection (Review).Molecular medicine reports · 2026Review
- Multistaged aortic repair for a 14-year-old girl with Loeys-Dietz syndrome.Journal of vascular surgery cases and innovative techniques · 2026Article
- Next-Generation Surgery: Integrating Artificial Intelligence, Genetic Technologies, Bioengineering and Rehabilitation Into Modern Practices.Exploration (Beijing, China) · 2026Article
- Multidisciplinary Surgical Management for a Pregnant Patient With Acute Type A Aortic Dissection.The American journal of case reports · 2026Article
- Clinically Translatable Mutation-Based Biomarkers in Ascending Aortic Aneurysm: A Bibliometric Study.Human mutation · 2026Article
- Thoracic Aortic Dissection (Type B) Managed with Emergency Cesarean Section and Thoracic Endovascular Aortic Repair.The American journal of case reports · 2025Article
- Review
- Genetic factors and management strategies in aortic health: a literature review of inherited aortopathy.Annals of medicine and surgery (2012) · 2025Review
- Case Report: Challenges in the surgical treatment of Marfan-associated aortic aneurysms: a literature review starting from a clinical case.Frontiers in surgery · 2025Article
- Diagnostic yield and therapeutic implications of 25 years of specialized pediatric Marfan clinic.European journal of pediatrics · 2024Observational
- Hereditary Aortopathies as Cause of Sudden Cardiac Death in the Young: State-of-the-Art Review in Molecular Medicine.Diseases (Basel, Switzerland) · 2024Review
- Unraveling the genetic collagen connection: clinical and therapeutic insights on genetic connective tissue disorders.Advances in rheumatology (London, England) · 2024Review
- The perspective of cAMP/cGMP signaling and cyclic nucleotide phosphodiesterases in aortic aneurysm and dissection.Vascular pharmacology · 2024Review
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Syndromic aortic diseases (SADs) encompass various pathological manifestations affecting the aorta caused by known genetic factors, such as aneurysms, dissections, and ruptures. However, the genetic mutation underlying aortic pathology also gives rise to clinical manifestations affecting other vessels and systems. As a consequence, the main syndromes currently identified as Marfan, Loeys-Dietz, and vascular Ehlers-Danlos are characterized by a complex clinical picture. In this contribution, we provide an overview of the genetic mutations currently identified in order to have a better understanding of the pathogenic mechanisms. Moreover, an update is presented on the basis of the most recent diagnostic criteria, which enable an early diagnosis. Finally, therapeutic strategies are proposed with the goal of improving the rates of patient survival and the quality of life of those affected by these SADs.
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