Concomitant cardiovascular malformations in isolated bicuspid aortic valve disease: a retrospective cross-sectional study and meta-analysis

BACKGROUND: Congenital bicuspid aortic valve affects up to 2% of the general population. It occurs in complex congenital heart defects or in syndromes such as Turner, Marfan, or Loeys-Dietz. However, the majority of bicuspid aortic valves are considered to manifest as isolated malformations. METHODS: We aimed to assess retrospectively associated cardiovascular malformations in 200 individuals with bicuspid aortic valve considered to occur as an isolated manifestation. All individuals underwent transthoracic echocardiography, 164 thoracoabdominal tomographic imaging, and 84 coronary artery imaging. In addition, we also performed a meta-analysis of data from the literature to assess the occurrence of associate malformations. RESULTS: In our retrospective cross-sectional study collective, the mean age was 45±15 years, 154 (77%) individuals were male. Anatomy of bicuspid aortic valve according to Schaefer was type 1 in 142 (71%), type 2 in 35 (18%), type 3 in 2 (1%), unicuspid in 6 (3%), and unclassified in 15 (8%) individuals. Coarctation of the aorta had 4.2% of individuals, 3.6% had coronary anomalies. No individual had a patent ductus arteriosus, 0.5% had atrial and ventricular septal defect each, 1.5% mitral valve prolapse. No individual had a tricuspid valve prolapse. Our meta-analysis identified in cohorts with isolated bicuspid aortic valve 11.8% (95% CI: 7.7–16.0%) individuals with aortic coarctation, 3.7% (95% CI: 1.2–6.1%) with coronary anomalies, 3.3% (95% CI: 0.0–6.7%) with patent ductus arteriosus, 5.9% (95% CI: 1.3–10.5%) with ventricular septal defect and 1.6% (95% CI: 1.1–2.1%) with mitral valve prolapse. CONCLUSIONS: Individuals with isolated bicuspid aortic valve may exhibit a variety of associated cardiovascular malformations and therefore screening for associated malformations may be warranted.