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Prevalence of Genetic Variants and Deep Phenotyping of Patients with Thoracic Aortic Aneurysm and Dissection: A Cross-Sectional Single Centre Cohort Study
Mahlmann, A.; Elzanaty, N.; Saleh, M.; Irqsusi, M.; Rastan, A.; Leip, J.L.; Behrendt, C.-A.; Ghazy, T. Prevalence of Genetic Variants and Deep Phenotyping in Patients with Thoracic Aortic Aneurysm and Dissection: A Cross-Sectional Single-Centre Cohort Study. J. Clin. Med.2024, 13, 461.
Mahlmann, A.; Elzanaty, N.; Saleh, M.; Irqsusi, M.; Rastan, A.; Leip, J.L.; Behrendt, C.-A.; Ghazy, T. Prevalence of Genetic Variants and Deep Phenotyping in Patients with Thoracic Aortic Aneurysm and Dissection: A Cross-Sectional Single-Centre Cohort Study. J. Clin. Med. 2024, 13, 461.
Mahlmann, A.; Elzanaty, N.; Saleh, M.; Irqsusi, M.; Rastan, A.; Leip, J.L.; Behrendt, C.-A.; Ghazy, T. Prevalence of Genetic Variants and Deep Phenotyping in Patients with Thoracic Aortic Aneurysm and Dissection: A Cross-Sectional Single-Centre Cohort Study. J. Clin. Med.2024, 13, 461.
Mahlmann, A.; Elzanaty, N.; Saleh, M.; Irqsusi, M.; Rastan, A.; Leip, J.L.; Behrendt, C.-A.; Ghazy, T. Prevalence of Genetic Variants and Deep Phenotyping in Patients with Thoracic Aortic Aneurysm and Dissection: A Cross-Sectional Single-Centre Cohort Study. J. Clin. Med. 2024, 13, 461.
Abstract
Background: There is a paucity of evidence on people with thoracic aortic aneurysm and dissection. We aimed to determine the prevalence of genetic variants and associations with phenotypes. Methods: In the current cross-sectional single centre cohort study of consecutive patients who underwent endovascular or open-surgical repair of thoracic aortic aneurysm and dissection, we applied genetic analysis using four-stage Next Generation Sequencing and confirmed findings with Sanger sequencing. We collected personal and family history on comorbidities, clinical examination, anthropometrics, skeletal deformities, joint function ophthalmological measures. Cardiovascular risk- and phenotype scores were calculated. Results: 95 patients were eligible (mean age 54±9 years, 70% males, 56% aortic dissection). One-fifth had a family history of aortic disease, 95% and 54% had a phenotype score of ≤5 and ≤2, respectively. There weren’t significant differences in the distribution of phenotype characteristics according to age, sex, aortic pathology, or performed invasive procedure. Genetic variants were detected in 40% of patients; classic variants comprised 18% of all variants. We observed no significant association with cardiovascular and phenotype score but with higher joint function scores (p=.015). Conclusion: Genetic variants are highly present in clinically-relevant aortic pathologies. Variants appear to play a larger role than previously described. The different variants don’t correlate with specific phenotypes, nor with age, pathology, sex, or family history.
Medicine and Pharmacology, Cardiac and Cardiovascular Systems
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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