Hereditary patterns of bicuspid aortic valve in a hundred families

Background

To study the following characteristics of bicuspid aortic valves (BAVs): 1) the recurrence rate in our population, 2) patterns of hereditary transmission in different BAV morphologies and 3) the aortic dimensions of BAVs in first-degree relatives (FDRs).

Methods

A cross-sectional, prospective study of 100 consecutive families of BAV patients attending a university hospital. The following aortic valve morphologies were analysed and categorised: fusion of the right and left coronary cusps (BAV type A), right and noncoronary cusps (type B) and of the left and noncoronary cusps (type C).

Results

There were 553 subjects studied, 100 cases with a BAV (46.8 ± 15 years, 66% male, type 67% A, 32% B and 1% C; 42% with aortic dilatation), 348 FDRs (44.8% male), and 105 healthy control subjects (50% male). We detected 16 BAVs among 348 FDRs. The recurrence rates were 15% for families, 4.6% for FDRs, 7.05% in men and 2.60% in women. The morphologic concordance in family members was 68.8%. The aortic dimensions in 270 adult FDRs with a tricuspid aortic valve were significantly smaller compared with BAV patients (sinus index diameter 1.60 ± 0.19 cm/m² vs. 1.82 ± 0.29 cm/m², p < 0.001; tubular index diameter 1.51 ± 0.23 cm/m² vs. 2.00 ± 0.45 cm/m², p < 0.001) and similar to 103 control subjects(sinus index diameter 1.60 ± 0.19 cm/m² vs. 1.59 ± 0.17 cm/m², p = 0.600 and tubular index diameter 1.51 ± 0.23 cm/m² vs. 1.53 ± 0.18 cm/m², p = 0.519).

Conclusions

In our population, the BAV recurrence rate in FDRs was low (4.6%). The hereditary transmission of morphologic BAV types seems by chance, and the aortic dimensions in tricuspid FDRs are normal.