Analysis of the Association between Copy Number Variation and Ventricular Fibrillation in ST-Elevation Acute Myocardial Infarction.

Sudden cardiac death due to ventricular fibrillation (VF) during ST-elevation acute myocardial infarction (STEAMI) significantly contributes to cardiovascular-related deaths. Although VF has been linked to genetic factors, variations in copy number variation (CNV), a significant source of genetic variation, have remained largely unexplored in this context. To address this knowledge gap, this study performed whole exome sequencing analysis on a cohort of 39 patients with STEAMI who experienced VF, aiming to elucidate the role of CNVs in this pathology. The analysis revealed CNVs in the form of duplications in the PARP2 and TTC5 genes as well as CNVs in the form of deletions in the MUC15 and PPP6R1 genes, which could potentially serve as risk indicators for VF during STEAMI. The analysis also underscores notable CNVs with an average gene copy number equal to or greater than four in DEFB134, FCGR2C, GREM1, PARM1, SCG5, and UNC79 genes. These findings provide further insight into the role of CNVs in VF in the context of STEAMI.

Rare Variants in Genes of the Cholesterol Pathway Are Present in 60% of Patients with Acute Myocardial Infarction.

Acute myocardial infarction (AMI) is a pandemic in which conventional risk factors are inadequate to detect who is at risk early in the asymptomatic stage. Although gene variants in genes related to cholesterol, which may increase the risk of AMI, have been identified, no studies have systematically screened the genes involved in this pathway. In this study, we included 105 patients diagnosed with AMI with an elevation of the ST segment (STEMI) and treated with primary percutaneous coronary intervention (PPCI). Using next-generation sequencing, we examined the presence of rare variants in 40 genes proposed to be involved in lipid metabolism and we found that 60% of AMI patients had a rare variant in the genes involved in the cholesterol pathway. Our data show the importance of considering the wide scope of the cholesterol pathway in order to assess the genetic risk related to AMI.

Percutaneous Management of Aortic Root Rupture After Balloon-Expandable TAVR.

This article presents a case of aortic root rupture after transfemoral aortic valve replacement, successfully treated by a percutaneous approach, with a good evolution of the patient both during hospitalization and in the long term, being asymptomatic at the cardiovascular level after 18 months of follow-up. (Level of Difficulty: Advanced.).

Prosthetic pulmonary valve and conduit endocarditis in congenital heart disease.

BACKGROUND: Pulmonary valve replacement is one of the most common procedures in patients with congenital heart disease. Little is known about prosthetic valve endocarditis in this population. OBJECTIVES: To review management and outcomes of pediatric and adult patients with a prosthetic pulmonary valve or right ventricle-to-pulmonary artery conduit infective endocarditis. METHODS AND RESULTS: A multiinstitutional cohort of 10 patients is reported. Median age at endocarditis was 24 years (range 8-41 years). The most common causative organisms were Staphylococcus ( n = 4) and Streptococcus species ( n = 2). In addition to medical treatment, 5 patients required surgery. Majors complications such as renal damage, life-threatening hemoptysis, and septic shock were observed. No patient died in hospital or during follow-up. CONCLUSIONS: Pulmonary prosthetic valve endocarditis is a rare condition associated with significant morbidity and a high risk of requiring operative intervention. Larger studies are required to optimize the management.