Skip to main content
SpringerLink
Log in

First-Degree Relatives Screening of Patients with Bicuspid Aortic Valve: Effectiveness and Feasibility in Pediatric Cardiology Daily Practice

  • Original Article
  • Published:
Pediatric Cardiology Aims and scope Submit manuscript

Abstract

Bicuspid aortic valve (BAV) is the most common congenital heart disease. Since heritability is suspected, actual guidelines recommend to perform an echocardiographic assessment for first-degree relatives (FDR) of patient with BAV. This study aimed to assess the effectiveness and the feasibility of the current guidelines for the screening of FDR of patient with BAV in a pediatric cardiology daily practice. Consecutive patients with BAV and their FDR were prospectively included from January 2015 to March 2018 at Centre Hospitalier Universitaire de Laval, Quebec City (Canada). Data were retrospectively collected and analyzed. A total of 713 FDR of 213 consecutives index cases [median age: 11 (6–20) years] were studied. Up to 32 (6.6%) FDR had a BAV and 26 (5.4%) had an aortic valve dysfunction. A total of 14 (2.9%) FDR had an ascending aorta dilatation according to Z-score including 6 (1.2%) patients with an ascending aorta ≥ 45 mm. No statistically significant differences regarding BAV, aortic valve dysfunction and ascending aorta dilatation prevalence were identified between generations. Screening was done in 482 (67.6%), prescribed but not done in 134 (19%), not prescribed in 92 (13%) and declined in 5 (1%) FDR. The prevalence of BAV in FDR was similar to prospective adult studies and supports actual guidelines in pediatric cardiology practice. Ascending aorta dilatation was rare in our young population. Exhaustiveness and additional burden to implement current guidelines remain a challenge in daily practice.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

Similar content being viewed by others

References

  1. Masri A, Svensson LG, Griffin BP, Desai MY (2017) Contemporary natural history of bicuspid aortic valve disease: a systematic review. Heart 103:1323–1330. https://doi.org/10.1136/heartjnl-2016-309916

    Article  PubMed  Google Scholar 

  2. Verma S, Siu SC (2014) Aortic dilatation in patients with bicuspid aortic valve. N Engl J Med 370:1920–1929. https://doi.org/10.1056/NEJMra1207059

    Article  CAS  PubMed  Google Scholar 

  3. Huntington K, Hunter AG, Chan KL (1997) A prospective study to assess the frequency of familial clustering of congenital bicuspid aortic valve. J Am Coll Cardiol 30:1809–1812

    Article  CAS  Google Scholar 

  4. Cripe L, Andelfinger G, Martin LJ et al (2004) Bicuspid aortic valve is heritable. J Am Coll Cardiol 44:138–143. https://doi.org/10.1016/j.jacc.2004.03.050

    Article  PubMed  Google Scholar 

  5. Loscalzo ML, Goh DLM, Loeys B et al (2007) Familial thoracic aortic dilation and bicommissural aortic valve: a prospective analysis of natural history and inheritance. Am J Med Genet A 143A:1960–1967. https://doi.org/10.1002/ajmg.a.31872

    Article  CAS  PubMed  Google Scholar 

  6. Nishimura RA, Otto CM, Bonow RO et al (2014) 2014 AHA/ACC guideline for the management of patients with valvular heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines. J Thorac Cardiovasc Surg 148:e1–e132. https://doi.org/10.1016/j.jtcvs.2014.05.014

    Article  PubMed  Google Scholar 

  7. Erbel R, Aboyans V, Boileau C et al (2014) 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). Eur Heart J 35:2873–2926. https://doi.org/10.1093/eurheartj/ehu281

    Article  PubMed  Google Scholar 

  8. Biner S, Rafique AM, Ray I et al (2009) Aortopathy is prevalent in relatives of bicuspid aortic valve patients. J Am Coll Cardiol 53:2288–2295. https://doi.org/10.1016/j.jacc.2009.03.027

    Article  PubMed  PubMed Central  Google Scholar 

  9. Robledo-Carmona J, Rodríguez-Bailón I, Carrasco-Chinchilla F et al (2013) Hereditary patterns of bicuspid aortic valve in a hundred families. Int J Cardiol 168:3443–3449. https://doi.org/10.1016/j.ijcard.2013.04.180

    Article  PubMed  Google Scholar 

  10. Galian-Gay L, Carro Hevia A, Teixido-Turà G et al (2018) Familial clustering of bicuspid aortic valve and its relationship with aortic dilation in first-degree relatives. Heart. https://doi.org/10.1136/heartjnl-2018-313802

    Article  PubMed  Google Scholar 

  11. Martin LJ, Hinton RB, Zhang X et al (2011) Aorta measurements are heritable and influenced by bicuspid aortic valve. Front Genet 2:61. https://doi.org/10.3389/fgene.2011.00061

    Article  PubMed  PubMed Central  Google Scholar 

  12. (2017) Guidelines for the Management of Congenital Heart Diseases in Childhood and Adolescence. Cardiol Young 27:S1–S105. https://doi.org/10.1017/S1047951116001955

  13. Lopez L, Colan SD, Frommelt PC et al (2010) Recommendations for quantification methods during the performance of a pediatric echocardiogram: a report from the Pediatric Measurements Writing Group of the American Society of Echocardiography Pediatric and Congenital Heart Disease Council. J Am Soc Echocardiogr 23:465–495. quiz 576–577. https://doi.org/10.1016/j.echo.2010.03.019

    Article  PubMed  Google Scholar 

  14. Baumgartner H, Falk V, Bax JJ et al (2017) 2017 ESC/EACTS guidelines for the management of valvular heart disease. Eur Heart J 38:2739–2791. https://doi.org/10.1093/eurheartj/ehx391

    Article  PubMed  Google Scholar 

  15. Gautier M, Detaint D, Fermanian C et al (2010) Nomograms for aortic root diameters in children using two-dimensional echocardiography. Am J Cardiol 105:888–894. https://doi.org/10.1016/j.amjcard.2009.11.040

    Article  PubMed  Google Scholar 

  16. Michelena HI, Desjardins VA, Avierinos J-F et al (2008) Natural history of asymptomatic patients with normally functioning or minimally dysfunctional bicuspid aortic valve in the community. Circulation 117:2776–2784. https://doi.org/10.1161/CIRCULATIONAHA.107.740878

    Article  PubMed  PubMed Central  Google Scholar 

  17. Kong WKF, Delgado V, Poh KK et al (2017) Prognostic implications of raphe in bicuspid aortic valve anatomy. JAMA Cardiol 2:285–292. https://doi.org/10.1001/jamacardio.2016.5228

    Article  PubMed  Google Scholar 

  18. Ward RM, Marsh JM, Gossett JM et al (2018) Impact of bicuspid aortic valve morphology on aortic valve disease and aortic dilation in pediatric patients. Pediatr Cardiol 39:509–517. https://doi.org/10.1007/s00246-017-1781-8

    Article  PubMed  Google Scholar 

  19. Capoulade R, Schott J-J, Le Tourneau T (2018) Familial bicuspid aortic valve disease: should we look more closely at the valve? Heart. https://doi.org/10.1136/heartjnl-2018-314063

    Article  PubMed  Google Scholar 

  20. Cozijnsen L, van der Zaag-Loonen HJ, Braam RL et al (2018) Yield of family screening in patients with isolated bicuspid aortic valve in a general hospital. Int J Cardiol 255:55–58. https://doi.org/10.1016/j.ijcard.2017.12.046

    Article  PubMed  Google Scholar 

  21. Fernandes S, Khairy P, Graham DA et al (2012) Bicuspid aortic valve and associated aortic dilation in the young. Heart 98:1014–1019. https://doi.org/10.1136/heartjnl-2012-301773

    Article  PubMed  Google Scholar 

  22. Donofrio MT, Moon-Grady AJ, Hornberger LK et al (2014) Diagnosis and treatment of fetal cardiac disease: a scientific statement from the American Heart Association. Circulation 129:2183–2242. https://doi.org/10.1161/01.cir.0000437597.44550.5d

    Article  PubMed  Google Scholar 

Download references

Funding

None.

Author information

Authors and Affiliations

  1. Pediatric Cardiology Unit, Department of Pediatrics, Centre Hospitalier Universitaire Laval, 2705 Boulevard Laurier, Québec City, QC, G1V 4G2, Canada

    Claire Massardier, Jean-Marc Côté, Christian Drolet, Christine Houde, Laurence Vaujois & Philippe Chetaille

  2. Laval University, Québec City, Canada

    Florence Desroches

  3. CHU de Québec Research Center, Laval University, Québec City, Canada

    Narcisse Singbo

Authors
  1. Claire Massardier
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Florence Desroches
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Narcisse Singbo
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Jean-Marc Côté
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Christian Drolet
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Christine Houde
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Laurence Vaujois
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Philippe Chetaille
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Philippe Chetaille.

Ethics declarations

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical Approval

This study was approved by the local hospital ethic review board.

Additional information

Publisher's Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Electronic supplementary material

Below is the link to the electronic supplementary material.

Supplementary file1 (DOCX 14 kb)

Supplementary file2 (DOCX 13 kb)

Supplementary file3 (TIFF 1079 kb)

State of echocardiographic screening in all first-degree relatives.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Massardier, C., Desroches, F., Singbo, N. et al. First-Degree Relatives Screening of Patients with Bicuspid Aortic Valve: Effectiveness and Feasibility in Pediatric Cardiology Daily Practice. Pediatr Cardiol 41, 1645–1650 (2020). https://doi.org/10.1007/s00246-020-02423-x

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00246-020-02423-x

Keywords

Search

Navigation