Cardiomyopathies are clinically heterogeneous disorders and are the leading cause of cardiovascular morbidity and mortality. Different etiologies have a significant impact on prognosis. Recently, novel biallelic loss‐of‐function pathogenic variants in alpha‐kinase 3 (ALPK3) were implicated in causing early‐onset pediatric cardiomyopathy (cardiomyopathy, familial hypertrophic 27; OMIM 618052). To date, eight patients, all presented during early childhood, were reported with biallelic ALPK3 pathogenic variants. We describe the molecular and clinical phenotype characterization of familial cardiomyopathy on one family with six affected individuals. We identified homozygosity for an ALPK3 deleterious sequence variant (NM_020778.4:c.639G>A:p.Trp213*) in all the affected individuals. They presented with either dilated cardiomyopathy that progressed to hypertrophic cardiomyopathy (HCM) or HCM with left ventricular noncompaction. The age of presentation in our cohort extends between infancy to the fourth decade. The phenotypic severity decreases with the progression of age.

Aortico-left ventricular tunnel is a rare congenital heart defect. Reports on successful device closure of these defects are scarce. We are reporting the first case of device closure of aortico-left ventricular tunnel using an Amplatzer vascular plug III.

Objectives: This study aimed to review the experience with percutaneous closure of ventricular septal defects (VSDs) at the National Heart Center (NHC) in Muscat, Oman. Methods: This retrospective study was conducted from November 2008 to December 2017. Patients’ electronic medical records were reviewed to identify their clinical, imaging and interventional data before and after the procedure and on the last followup. Results: A total of 116 patients, the majority of which were female (58%), underwent 118 percutaneous procedures for VSD closure at a median age of 3.54 years (range: 0.25–33 years) and a median weight of 12 kg (range: 3.5–78 kg). The mean diameter of the VSDs as determined by transoesophageal echocardiogram was 5.6 ± 1.9 mm (n = 105). The commonest type of VSD was perimembranous (n = 75, 63.5%). Devices were successfully placed during 111 (94.1%) procedures in 109 (94.0%) patients, with the commonest device being a Amplatzer™ duct occluder I (St. Jude Medical, Little Canada, Minnesota, USA; n = 39, 35.1%). There was no mortality. Early major cardiac complications occurred in six patients (5.5%) with device embolisation being the commonest (n = 4, 3.7%). The median follow-up period was 19 months (range: 1–84 months) in 89 (81.7%) of the patients. One patient (0.9%) required a permanent pacemaker for a complete heart block. Conclusion: This study has demonstrated a good rate of VSD closure with low morbidity and no mortality using the percutaneous approach with different devices. Long-term follow-up is needed to specifically evaluate the function of adjacent structures and the long-term effects on conduction systems. Keywords: Ventricular Septal Defect; Percutaneous Coronary Intervention; Amplatzer Occluder Device; Vascular Closure Device; Heart Block; Oman.

Streptococcus agalactiae is known to cause invasive infections in risk groups such as pregnant women, newborns, and immunosuppressed patients but it is uncommon in older children. We describe a case of recurrent infective endocarditis due to S. agalactiae in an 11-year-old boy with Loeys-Dietz syndrome who was successfully treated with long-term antimicrobial therapy for one year.