Heritable thoracic aortic disease: a literature review on genetic aortopathies and current surgical management

Heritable thoracic aortic disease puts patients at risk for aortic aneurysms, rupture, and dissections. The diagnosis and management of this heterogenous patient population continues to evolve. Last year, the American Heart Association/American College of Cardiology Joint Committee published diagnos...

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Bibliographic Details
Published inGeneral thoracic and cardiovascular surgery Vol. 72; no. 5; pp. 293 - 304
Main Authors Mills, Alexander C., Sandhu, Harleen K., Ikeno, Yuki, Tanaka, Akiko
Format Journal Article
LanguageEnglish
Published Singapore Springer Nature Singapore 01.05.2024
Springer Nature B.V
Subjects
Abdomen
Aorta, Thoracic - surgery
Aortic Aneurysm
Aortic Aneurysm, Thoracic - diagnosis
Aortic Aneurysm, Thoracic - genetics
Aortic Aneurysm, Thoracic - surgery
Aortic aneurysms
Aortic Diseases - genetics
Aortic Diseases - surgery
Aortic dissection
Cardiac Surgery
Cardiology
Congenital diseases
Connective tissue
Coronary vessels
Disease
Extracellular matrix
Genes
Genetic disorders
Genetic testing
Glycoproteins
Growth factors
Humans
Kinases
Ligands
Literature reviews
Marfan syndrome
Medicine
Medicine & Public Health
Mutation
Patients
Proteins
Review Article
Smooth muscle
Surgical Oncology
Thoracic Surgery
Transcription factors
United States
United States
Aortic dissection
Heritable thoracic aortic disease
Vascular surgery
Genetic aortopathy
Genetic arteriopathy
Aortic aneurysm
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Summary:Heritable thoracic aortic disease puts patients at risk for aortic aneurysms, rupture, and dissections. The diagnosis and management of this heterogenous patient population continues to evolve. Last year, the American Heart Association/American College of Cardiology Joint Committee published diagnosis and management guidelines for aortic disease, which included those with genetic aortopathies. Additionally, evolving research studying the implications of underlying genetic aberrations with new genetic testing continues to become available. In this review, we evaluate the current literature surrounding the diagnosis and management of heritable thoracic aortic disease, as well as novel therapeutic approaches and future directions of research.
Bibliography:ObjectType-Article-2
SourceType-Scholarly Journals-1
ObjectType-Feature-3
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ObjectType-Review-1
ISSN:1863-6705
1863-6713
DOI:10.1007/s11748-024-02017-x