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Updated: Aug 29, 2025
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Ultrasound Imaging of the Thoracic and Abdominal Aorta in Mice to Determine Aneurysm Dimensions
Published on: March 8, 2019
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Genetic of thoracic aorta aneurysm
Margaux Cadenet1, Nadine Hanna1,2, Pauline Arnaud1,2
1Département de génétique, APHP, Hôpital Bichat, Paris
Annales De Biologie Clinique
|September 13, 2022
Summary
Thoracic Aortic Aneurysm and Dissection (TAAD) has genetic origins in about 20% of cases. Identifying pathogenic variants is crucial for diagnosis, personalized treatment, and screening at-risk relatives.
Area of Science:
- Cardiovascular Genetics
- Aortic Diseases
- Molecular Biology
Background:
- Thoracic Aortic Aneurysm and Dissection (TAAD) involves dilation of the ascending aorta, potentially leading to rupture or dissection.
- Genetic factors contribute to approximately 20% of TAAD cases, with around thirty implicated genes.
- These genes often encode proteins in the extracellular matrix, smooth muscle cell contraction, or TGF-β signaling.
Purpose of the Study:
- To review the primary genes associated with TAAD.
- To outline the current diagnostic strategies for TAAD.
- To highlight the importance of genetic variant identification for patient management and family screening.
Main Methods:
- Literature review of genes linked to TAAD.
- Summary of diagnostic approaches for TAAD.
- Discussion of the role of Next Generation Sequencing (NGS) and gene panels.
Main Results:
- Identification of key genes involved in TAAD pathogenesis.
- Overview of the diagnostic utility of genetic testing in TAAD.
- Emphasis on the improved accessibility of genetic testing through NGS.
Conclusions:
- Genetic testing is essential for definitive TAAD diagnosis, personalized treatment, and cascade screening.
- Advances in NGS and gene panels have enhanced diagnostic capabilities for TAAD.
- Understanding the genetic basis of TAAD is critical for effective patient care and risk assessment.
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