Article Text

Original research article
Familial clustering of bicuspid aortic valve and its relationship with aortic dilation in first-degree relatives
  1. Laura Galian-Gay1,
  2. Amelia Carro Hevia1,
  3. Gisela Teixido-Turà1,
  4. José Rodríguez Palomares1,
  5. Laura Gutiérrez-Moreno1,
  6. Giuliana Maldonado1,
  7. María Teresa Gonzàlez-Alujas1,
  8. Augusto Sao-Aviles1,
  9. Pastora Gallego2,
  10. Francisco Calvo-Iglesias3,
  11. Javier Bermejo4,
  12. Juan Robledo-Carmona5,
  13. Violeta Sánchez6,
  14. Daniel Saura7,
  15. Teresa Sevilla8,
  16. Sergio Burillo-Sanz9,
  17. Andrea Guala1,
  18. David Garcia-Dorado1,
  19. Arturo Evangelista1
  20. On behalf of the BICUSPID investigators
    1. 1Department of Cardiology, Hospital Universitari Vall d’Hebron, CIBER-CV, Universitat Autònoma de, Barcelona, Spain
    2. 2Department of Cardiology, Hospital Universitario Virgen de la Macarena. CIBER-CV, Sevilla, Spain
    3. 3Department of Cardiology, Xestión Integrada de Vigo Hospital Alvaro Cunqueiro, Vigo, Spain
    4. 4Department of Cardiology, Hospital General Universitario Gregorio Marañón, Facultad de Medicina, Universidad Complutense de Madrid and CIBER-CV, Madrid, Spain
    5. 5Department of Cardiology, Hospital Universitario Virgen de la Victoria, CIBER-CV, Málaga, Spain
    6. 6Department of Cardiology, Hospital Universitario 12 de Octubre, CIBER-CV, Madrid, Spain
    7. 7Department of Cardiology, Hospital Clínico Universitario Virgen de la Arrixaca, CIBER-CV, Murcia, Spain
    8. 8Department of Cardiology, Hospital Clínico Universitario de Valladolid, CIBER-CV, Valladolid, Spain
    9. 9Department of Immunology, Hospital Universitario Virgen del Rocío (IBiS, CSIC, US), Sevilla, Spain
    1. Correspondence to Dr Arturo Evangelista, Department of Cardiology, Vall d’Hebron Hospital, Barcelona 08035, Spain; arturevangelistamasip{at}


    Objective Bicuspid aortic valve (BAV) is the most common congenital heart disease. This study aimed to determine the prevalence rate of BAV in first-degree relatives (FDR) and the inheritance pattern according to different morphotypes and aortic dilation.

    Methods BAV probands were consecutively studied at eight tertiary referral centres. After sequential screening, FDR were included in the study. The BAV morphotype, aortic dilation and aortic phenotype were assessed by transthoracic echocardiography.

    Results Seven hundred and twenty-four FDR of 256 BAV probands agreed to undergo family screening. The prevalence of BAV was 6.4% in FDR (9.2% in men, 3.5% in women, p=0.002). Aortic dilation was diagnosed in 9.6% of FRD with tricuspid aortic valves (TAV), with a root phenotype in 2.7% and tubular in 6.9% and more frequently in the presence of arterial hypertension (OR 4.48; CI 95% 2.51 to 7.99; p=0.0001) and valvular regurgitation (OR 5.87, CI 95% 1.37 to 25.16; p=0.025). The heritability (h2) of BAV was highly significant (0.47; p=0.002); however, no concordance was observed among valve morphotypes. Aortic dilation heritability was not significant.

    Conclusions The BAV prevalence rate in FDR was low (6.4%) but aortic dilation was observed in 9.6% of FDR with TAV. The heritability of BAV was high without concordance in valve morphotypes, and aortic dilation heritability was not observed. Patients with BAV should be made aware of its familial pattern.

    • aortic and arterial disease
    • bicuspid aortic valve
    • clinical genetics
    • echocardiography

    Statistics from


    • Contributors All co-authors and collaborators agree with the final version of the manuscript submitted and in the information that I have included in the current form.

    • Funding This work was supported by the grant PI11/01081 (Instituto de Salud Carlos III, Madrid).

    • Competing interests None declared.

    • Patient consent Obtained.

    • Ethics approval CEIC Hospital Vall d’Hebron.

    • Provenance and peer review Not commissioned; externally peer reviewed.

    • Collaborators BICUSPID investigators (see online supplementary appendix). This research was possible thanks to the collaboration of patients with BAV, their families and the staff of the following centres: Hospital Universitari Vall d’Hebron (Barcelona), Hospital Universitario Virgen de la Macarena (Sevilla), Hospital Universitario Virgen de la Victoria (Málaga), Hospital Alvaro Cunqueiro (Vigo), Hospital General Universitario Gregorio Marañón (Madrid), Hospital Clínico Universitario Virgen de la Arrixaca (Murcia), Hospital Univesitario 12 de Octubre (Madrid) and Hospital Clínico Universitario de Valladolid (Valladolid).

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

    Linked Articles