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Original research

Analysis of the relative risks of first aortic events linked to hereditary thoracic aortic diseases

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Objective: Heritable Thoracic Aortic (HTA) disease is characterized by pathogenic variants in eleven genes, even though there is insufficient data to categorise the First Aortic Events (FAE) risk related to such genes. Methods: The chance of FAE was estimated for a retrospective cohort of probands and families with rare mutations in seven genes for HTA disease (n=1,028) using the gene variables, pathogenic variation class, gender, proband status, and region of recruitment. Results: Both the Smooth Muscle Contraction (SMC) genes (MYLK, ACTA2, and PRKG1; P =0.002) and the Loeys-Dietz syndrome genes (TGFBR1, TGFBR2, TGFB2, and SMAD3; P< 0.0001), which encodes a protein in the Transforming Growth Factor (TGF)-b pathway, showed significant variations in aortic event risk. In contrast to those who received elective aneurysm treatment, participants with variations in TGFBR2 had a reduced cumulative incidence of type-A aortic dissection. Participants with mutations in MYLK, ACTA2, PRKG1, and SMAD3 had consistently higher incidences of type-A aortic dissection. Compared to other genes, PRKG1, ACTA2, and TGFBR2 exhibited a higher Cumulative Incidence (CI) of type B aortic dissection. Even if proband status, gender, and recruiting location were taken into consideration, there was a noticeably higher risk of an FAE with childhood onset associated with specific polymorphisms in the gene ACTA2 and TGFBR2. Conclusion: Data on FAE in people with HTA disease that are gene and variant-specific assist personalized aortic monitoring and clinical care.


Ghaus Mohd Chouhan, Harsh Bhati, Renuka Jyothi Analysis of the relative risks of first aortic events linked to hereditary thoracic aortic diseases. Cardiometry; No.26 February 2023; p.-; DOI: .; Available from:


Heritable thoracic aortic (HTA) disease,  First aortic events,  Loeys-Dietz syndrome,  Clinical care,  Relative risks
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