A prospective study to assess the frequency of familial clustering of congenital bicuspid aortic valve

J Am Coll Cardiol. 1997 Dec;30(7):1809-12. doi: 10.1016/s0735-1097(97)00372-0.


Objectives: This study sought to determine the rate of familial occurrence of congenital bicuspid aortic valve (BAV) by using echocardiography to screen family members.

Background: Congenital BAV is a common anomaly that carries with it a significant risk of potential long-term cardiac complications. Despite several reports of the familial occurrence of BAV, the condition is not generally considered to be inherited.

Methods: Thirty consecutive patients with echocardiographically documented congenital BAV were interviewed to construct three-generation family pedigrees. All first-degree relatives were contacted to undergo echocardiography to specifically determine aortic valve morphology.

Results: Of the 210 first-degree relatives, 190 (90.5%) agreed to undergo echocardiography. Four members had technically difficult studies. Of the remaining 186 subjects, 17 (9.1%) were identified as having BAV; 11 (36.7%) of the 30 families had at least one additional member with the condition. The male/female ratio of affected members in the 11 families was 1. In one family, two instances of male-to-male transmission were observed. The distribution of BAV in the majority of multiplex families is compatible with autosomal dominant inheritance with reduced penetrance.

Conclusions: We demonstrated a high incidence of familial clustering in congenital BAV. We believe that the high rate of occurrence of the condition in immediate relatives justifies echocardiographic screening of first-degree relatives to anticipate and prevent future complications associated with this common cardiac malformation.

MeSH terms

  • Aortic Valve / abnormalities*
  • Cluster Analysis
  • Echocardiography
  • Female
  • Genes, Dominant
  • Heart Defects, Congenital / diagnostic imaging
  • Heart Defects, Congenital / epidemiology
  • Heart Defects, Congenital / genetics
  • Humans
  • Incidence
  • Male
  • Middle Aged
  • Pedigree
  • Risk Factors