Is Bicuspid Aortic Valve Morphology Genetically Determined? A Family-Based Study
| Autor: | Yonatan Levin, Shoshana Shpitzen, Noga Reshef, Guy Kelman, Dan Gilon, Juliette Albuisson, Jean-Michaël Mazzella, Donna R. Zwas, Idit Tessler, Galina Levin, Emmanuel Messas, Ronen Durst, Shai Carmi, Guillaume Goudot, Charles Cheng |
|---|---|
| Přispěvatelé: | Goudot, Guillaume, Hadassah Hebrew University Medical Center [Jerusalem], Université Paris Cité (UPCité), Paris-Centre de Recherche Cardiovasculaire (PARCC (UMR_S 970/ U970)), Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Centre de Réféfence des Maladies Vasculaires Rares [HEGP, APHP] (CRMVR), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Université Paris Descartes - Paris 5 (UPD5), Service d'oncogénétique [Centre georges-François Leclerc], Centre Régional de Lutte contre le cancer Georges-François Leclerc [Dijon] (UNICANCER/CRLCC-CGFL), UNICANCER-UNICANCER, The Hebrew University of Jerusalem (HUJ) |
| Jazyk: | angličtina |
| Rok vydání: | 2022 |
| Předmět: |
Adult
Male medicine.medical_specialty Heart disease Concordance [SDV]Life Sciences [q-bio] symbols.namesake Bicuspid aortic valve Bicuspid Aortic Valve Disease Internal medicine medicine Humans Mass Screening Family Intrafamilial variability Aged business.industry Middle Aged medicine.disease Phenotype [SDV] Life Sciences [q-bio] Echocardiography Cohort Cardiology Mendelian inheritance symbols Female Cardiology and Cardiovascular Medicine Family based business |
| Zdroj: | American Journal of Cardiology American Journal of Cardiology, 2022, 163, pp.85-90. ⟨10.1016/j.amjcard.2021.09.051⟩ |
| ISSN: | 0002-9149 1879-1913 |
| Popis: | International audience; Bicuspid aortic valve (BAV) is a common congenital heart disease, with a 10-fold higher prevalence in first-degree relatives. BAV has different phenotypes based on the morphology of cusp fusion. These phenotypes are associated with different clinical courses and prognoses. Currently, the determinants of the valve phenotype are unknown. In this study we evaluated the role of genetics using familial cohorts. Patients with BAV and their first-degree relatives were evaluated by echocardiography. The concordance in BAV phenotype between pairs of family members was calculated and compared with the concordance expected by chance. We then performed a systematic literature review to identify additional reports and calculated the overall concordance rate. During the study period, 70 cases from 31 families and 327 sporadic cases were identified. BAV was diagnosed in 14% of the screened relatives. The proportions of the morphologies identified was: 12.3% for type 0, 66.2% for type 1-LR, 15.4% for type 1-RN, 4.6% for type 1-NL, and 1.5% for type 2. For the assessment of morphologic concordance, we included 120 pairs of first-degree relatives with BAV from our original cohort and the literature review. Concordance was found only in 62% of the pairs which was not significantly higher than expected by chance. In conclusion, our finding demonstrates intrafamilial variability in BAV morphology, suggesting that morphology is determined by factors other than Mendelian genetics. As prognosis differs by morphology, our findings may suggest that clinical outcomes may vary even between first-degree relatives. |
| Databáze: | OpenAIRE |
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