Compound Heterozygous Variants in a Patient with Dilated Cardiomyopathy Led to an Aberrant α-Dystroglycan Pattern.

Fukutin encoded by is a ribitol 5-phosphate transferase involved in glycosylation of α-dystroglycan. It is known that mutations in affect the glycosylation of α-dystroglycan, leading to a dystroglycanopathy. Dystroglycanopathies are a group of syndromes with a broad clinical spectrum including dilated cardiomyopathy and muscular dystrophy.

Severe heart failure and the need for mechanical circulatory support and heart transplantation in pediatric patients with myocarditis: Results from the prospective multicenter registry "MYKKE".

Myocarditis represents an important cause for acute heart failure. MYKKE, a prospective multicenter registry of pediatric patients with myocarditis, aims to gain knowledge on courses, diagnostics, and therapy of pediatric myocarditis. The role of mechanical circulatory support (MCS) in children with severe heart failure and myocarditis is unclear.

High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation.

Cardiomyopathies might lead to end-stage heart disease with the requirement of drastic treatments like bridging up to transplant or heart transplantation. A not precisely known proportion of these diseases are genetically determined. We genotyped 43 index-patients (30 DCM, 10 ARVC, 3 RCM) with advanced or end stage cardiomyopathy using a gene panel which covered 46 known cardiomyopathy disease genes.

Long-Term Mechanical Circulatory Support in Pediatric Patients.

This retrospective study reviews our results regarding the long-term support in pediatric patients using two ventricular assist systems between January 2008 and April 2014. We implanted the Berlin Heart EXCOR in 29 patients (median age 3.4 years [interquartile range (IQR) 0.

The TMEM43 Newfoundland mutation p.S358L causing ARVC-5 was imported from Europe and increases the stiffness of the cell nucleus.

Aims: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare genetic condition caused predominantly by mutations within desmosomal genes. The mutation leading to ARVC-5 was recently identified on the island of Newfoundland and caused by the fully penetrant missense mutation p.S358L in TMEM43.

Safety of Long-Term Mechanical Support With Berlin Heart EXCOR in Pediatric Patients.

Background. The Berlin Heart EXCOR Pediatrics is utilized at our center as a bridge to transplantation or bridge to recovery. This retrospective study reviews our results regarding the safety of long-term support and outcome.

De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy.

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease, frequently accompanied by sudden cardiac death and terminal heart failure. Genotyping of ARVC patients might be used for palliative treatment of the affected family. We genotyped a cohort of 22 ARVC patients referred to molecular genetic screening in our heart center for mutations in the desmosomal candidate genes JUP, DSG2, DSC2, DSP and PKP2 known to be associated with ARVC.

Mechanical ventricular circulatory support in children; Bad Oeynhausen experience.

Introduction: Recently various mechanical circulatory support systems are being used all over the world, nevertheless the size of the devices limits the implantation in pediatric cases. Accordingly we report our experiences with assist devices applied for pediatric patients.

Patients And Methods: Twenty-nine children underwent mechanical circulatory support implantation operation.

Heart transplantation for end-stage heart failure caused by iron overload.

Few reports exist concerning heart transplantation in recipients with end-stage myocardiopathy-associated heart failure caused by iron overload occurring with beta-thalassaemia, Diamond-Blackfan syndrome or haemochromatosis. Seven potential transplant candidates (six male, one female, mean age 26 years) with such heart failure, following desferrioxamine application subcutaneously over a number of years, and intravenously during their hospitalization before transplantation, were retrospectively analysed. Five were New York Heart Association (NYHA) class IV, three experienced one or more resuscitations immediately before transplantation could be performed.

Results of heart transplantation in patients with preexisting malignancies.

Twenty patients with end-stage heart failure and preexisting malignancies underwent heart transplantation at a single center, with a neoplasm-free interval before the procedure of 0 to 240 months. Twelve patients were long-term survivors (2 to 72 months); there were 2 early and 6 late deaths, thus justifying heart transplantation in patients with preexisting malignancies in individual cases.

Early rhythm disorders after arterial switch and intraatrial repair in infants with simple transposition of the great arteries.

Between 1986 and 1990 68 infants with transposition of the great arteries (TGA) have been repaired within their first six months of life. From the 51 simple TGA, forming the study group, 20 underwent intraatrial repair according to Mustard and Brom (group I) and 31 received the arterial switch procedure (group II). We compared the observed rhythm disorders after both surgical methods.