Genetic profile in patients with complicated acute aortic syndrome: the GEN-AOR study.

Autor: Puppo Moreno AM; Unidad de Cuidados Intensivos, Hospital Universitario Virgen del Rocío, Seville, Spain; Departamento de Medicina, Facultad de Medicina, Universidad de Sevilla, Seville, Spain. Electronic address: salud.borrego.sspa@juntadeandalucia.es., Bravo-Gil N; Departamento de Medicina Maternofetal, Genética y Reproducción, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Seville, Spain., Méndez-Vidal C; Departamento de Medicina Maternofetal, Genética y Reproducción, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Seville, Spain., Adsuar Gómez A; Departamento de Cirugía Cardiovascular, Hospital Universitario Virgen del Rocío, Seville, Spain., Gómez Ruiz FT; Departamento de Cirugía Vascular, Hospital Universitario Virgen del Rocío, Seville, Spain., Jiménez De Juan C; Departamento de Medicina Interna, Hospital Universitario Virgen del Rocío, Seville, Spain., Fernández García RM; Departamento de Medicina Maternofetal, Genética y Reproducción, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Seville, Spain., Martín Bermúdez R; Unidad de Cuidados Intensivos, Hospital Universitario Virgen del Rocío, Seville, Spain., López Sánchez JM; Unidad de Cuidados Intensivos, Hospital Universitario Virgen del Rocío, Seville, Spain., Martín Sastre S; Unidad de Cuidados Intensivos, Hospital Universitario Virgen del Rocío, Seville, Spain., Fernández Caro M; Unidad de Cuidados Intensivos, Hospital Universitario Virgen del Rocío, Seville, Spain., Gallego P; Departamento de Cardiología, Hospital Universitario Virgen del Rocío, Seville, Spain., Borrego S; Departamento de Medicina Maternofetal, Genética y Reproducción, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Seville, Spain.
Jazyk: English; Spanish; Castilian
Zdroj: Revista espanola de cardiologia (English ed.) [Rev Esp Cardiol (Engl Ed)] 2023 Jun; Vol. 76 (6), pp. 434-443. Date of Electronic Publication: 2022 Oct 25.
DOI: 10.1016/j.rec.2022.10.005
Abstrakt: Introduction and Objectives: Genetic testing is becoming increasingly important for diagnosis and personalized treatments in aortopathies. Here, we aimed to genetically diagnose a group of acute aortic syndrome (AAS) patients consecutively admitted to an intensive care unit and to explore the clinical usefulness of AAS-associated variants during treatment decision-making and family traceability.
Methods: We applied targeted next-generation sequencing, covering 42 aortic diseases genes in AAS patients with no signs consistent with syndromic conditions. Detected variants were segregated by Sanger sequencing in available family members. Demographic features, risk factors and clinical symptoms were statistically analyzed by Fisher or Fisher-Freeman-Halton Exact tests, to assess their relationship with genetic results.
Results: Analysis of next-generation sequencing data in 73 AAS patients led to the detection of 34 heterozygous candidate variants in 14 different genes in 32 patients. Family screening was performed in 31 relatives belonging to 9 families. We found 13 relatives harboring the family variant, of which 10 showed a genotype compatible with the occurrence of AAS. Statistical tests revealed that the factors associated with a positive genetic diagnosis were the absence of hypertension, lower age, family history of AAS and absence of pain.
Conclusions: Our findings broaden the spectrum of the genetic background for AAS. In addition, both index patients and studied relatives benefited from the results obtained, establishing the most appropriate level of surveillance for each group. Finally, this strategy could be reinforced by the use of stastistically significant clinical features as a predictive tool for the hereditary character of AAS.
Clinicaltrials: gov (Identifier: NCT04751058).
(Copyright © 2023 Sociedad Española de Cardiología. Published by Elsevier España, S.L.U. All rights reserved.)
Databáze: MEDLINE
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