Is Bicuspid Aortic Valve Morphology Genetically Determined? A Family-Based Study

Idit Tessler*, Guillaume Goudot, Juliette Albuisson, Noga Reshef, Donna R. Zwas, Shai Carmi, Shoshana Shpitzen, Galina Levin, Guy Kelman, Charles Cheng, Jean Michaël Mazzella, Yonatan Levin, Emmanuel Messas, Dan Gilon, Ronen Durst

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

6 Scopus citations


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.

Original languageAmerican English
Pages (from-to)85-90
Number of pages6
JournalAmerican Journal of Cardiology
StatePublished - 15 Jan 2022

Bibliographical note

Publisher Copyright:
© 2021 Elsevier Inc.


  • Adult
  • Aged
  • Bicuspid Aortic Valve Disease/classification
  • Echocardiography
  • Family
  • Female
  • Humans
  • Male
  • Mass Screening
  • Middle Aged
  • Phenotype


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