Search

Background: The incompetent bicuspid aortic valve (BAV) can be replaced or repaired using various surgical techniques. This study sought to assess the efficacy of external annuloplasty and postoperative reverse remodelling using cardiac magnetic resonance (CMR) and compare the results of external and subcommissural annuloplasty., Methods: Out of a total of 200 BAV repair performed between 2004 and 2018, 21 consecutive patients (median age 54 years) with regurgitation requiring valve repair with annuloplasty without concomitant aortic root surgery were prospectively referred for CMR and transthoracic echocardiography (TTE) one year after the operation. Two aortic annulus stabilization techniques were used: external, circumferential annuloplasty (EA), and subcommissural annuloplasty (SCA)., Results: 11 patients received EA and 10 patients were treated using SCA. There was no in-hospital mortality and all patients survived the follow-up period (median: 12.6 months (first quartile: 6.6; third quartile: 14.1). CMR showed strong correlation between postoperative aortic recurrent regurgitant fraction and left ventricular end-diastolic volume (r = 0.62; p = 0.003) as well as left ventricular ejection fraction (r = -0.53; p = 0.01). Patients treated with EA as compared with SCA had larger anatomic aortic valve area measured by CMR (3.5 (2.5; 4.0) vs. 2.5 cm 2 (2.0; 3.4); p = 0.04). In both EA and SCA group, aortic valve area below 3.5 cm 2 correlated with no regurgitation recurrency. EA (vs. SCA) was associated with lower peak transvalvular aortic gradients (10 (6; 17) vs. 21 mmHg (15; 27); p = 0.04)., Conclusions: The repair of the bicuspid aortic valve provides significant postoperative reverse remodelling, provided no recurrent regurgitation and durable reduction annuloplasty can be achieved. EA is associated with lower transvalvular gradients and higher aortic valve area assessed by CMR, compared to SCA.

Background: De novo missense variants in CDK13 have been described as the cause of syndromic congenital heart defects in seven individuals ascertained from a large congenital cardiovascular malformations cohort. We aimed to further define the phenotypic and molecular spectrum of this newly described disorder., Methods: To minimise ascertainment bias, we recruited nine additional individuals with CDK13 pathogenic variants from clinical and research exome laboratory sequencing cohorts. Each individual underwent dysmorphology exam and comprehensive medical history review., Results: We demonstrate greater than expected phenotypic heterogeneity, including 33% (3/9) of individuals without structural heart disease on echocardiogram. There was a high penetrance for a unique constellation of facial dysmorphism and global developmental delay, as well as less frequently seen renal and sacral anomalies. Two individuals had novel CDK13 variants (p.Asn842Asp, p.Lys734Glu), while the remaining seven unrelated individuals had a recurrent, previously published p.Asn842Ser variant. Summary of all variants published to date demonstrates apparent restriction of pathogenic variants to the protein kinase domain with clustering in the ATP and magnesium binding sites., Conclusions: Here we provide detailed phenotypic and molecular characterisation of individuals with pathogenic variants in CDK13 and propose management guidelines based upon the estimated prevalence of anomalies identified.