No abstract

Despite established selection criteria and improved surgical technique and medical management, there is a continuous failure and attrition risk following BCPC. Outcomes are influenced by underlying cardiac anomaly; patients with dominant left ventricle (i.e. tricuspid atresia, double inlet left ventricle) having the best survival while those with dominant right ventricle (i.e. hypoplastic left heart syndrome, double outlet right ventricle with heterotaxy) having the worst survival. Increased PVR remains a significant factor affecting mortality.

No abstract

The Ross procedure for congenital aortic valve disease in children and young adults offers excellent hemodynamics, with the added advantage of real potential for growth. It should be considered the treatment of choice in this age group.

Background - Childhood-onset cardiomyopathy (CMP) is a heterogenous group of conditions the etiology of which is largely unknown. The influence of consanguinity on the genetics of CMP has not been addressed at a large scale. Methods - To unravel the genetic etiology of childhood-onset CMP in a consanguineous population a categorized approach was adopted. Cases with childhood-onset CMP were consecutively recruited. Based on the likelihood of founder mutation and on the clinical diagnosis, genetic test was categorized to either: (i) Targeted Genetic Test (TGT) with: targeted mutation test, single gene test, or multi-gene panel for Noonan syndrome, or (ii) Untargeted genetic test with whole exome sequencing (WES) or whole genome sequencing (WGS). Several bioinformatics tools were used to filter the variants. Results - 205 unrelated probands with various forms of CMP were evaluated. The median age of presentation was 10 months. In 30.2% (n=62), TGT had a yield of 82.7% compared to 33.6% for WES/WGS (n=143) giving an overall yield of 53.7%. Strikingly, 96.4% of the variants were homozygous, 9% of which were found in 4 dominant genes. Homozygous variants were also detected in 7 novel candidates ( ACACB , AASDH , CASZ1 , FLII , RHBDF1 , RPL3L , ULK1 ). Conclusions - Our work demonstrates the impact of consanguinity on the genetics of childhood-onset CMP, the value of adopting a categorized population-sensitive genetic approach, and the opportunity of uncovering novel genes. Our data suggest that if a founder mutation is not suspected, adopting WES/WGS as a first-line test should be considered.