ABSTRACT
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.
ABSTRACT
BACKGROUND: Successful prevention of aortic complications has lead to improved survival of Marfan syndrome (MFS). With increasing age, however, ventricular arrhythmia and heart failure are emerging as life-threatening manifestations of myocardial dysfunction. HYPOTHESIS: We sought to investigate whether echocardiography with tissue Doppler imaging (TDI) identifies myocardial dysfunction in adults with MFS. METHODS: We performed two-dimensional (2-D) and Doppler echocardiography with TDI in 141 individuals with suspected MFS and competent heart valves, including 28 persons with MFS who had not undergone surgery and 86 healthy controls without inherited connective tissue disorders. RESULTS: Demographic profile, 2-D, mitral and pulmonary venous flow indices, and left ventricular ejection fractions were similar in both groups. Conversely, isovolumic relaxation time (p < 0.001) and deceleration time of E velocity (p = 0.005) were longer, and atrial reversal velocities (p = 0.02), and systolic and early diastolic TD velocities were slower in MFS than in controls (p = 0.01). Multiple linear regression analysis excluded association of reduced systolic and early diastolic TD velocities with mitral valve prolapse or other clinical or echocardiographic features of MFS. CONCLUSIONS: Our study identifies reduced systolic and early diastolic TD velocities in adults with MFS. Further studies are mandatory to elucidate whether TD velocities predict arrhythmia and heart failure in MFS.
