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

Fukutin encoded by FKTN is a ribitol 5-phosphate transferase involved in glycosylation of α-dystroglycan. It is known that mutations in FKTN 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. In this study, we reported the case of a patient with muscular dystrophy, early onset dilated cardiomyopathy, and elevated creatine kinase levels who was a carrier of the compound heterozygous variants p.Ser299Arg and p.Asn442Ser in FKTN. Our work showed that compound heterozygous mutations in FKTN lead to a loss of fully glycosylated α-dystroglycan and result in cardiomyopathy and end-stage heart failure at a young age.

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. Methods. Between January 2008 and December 2010, 12 patients (6 females and 6 males) underwent implantation of a ventricular assist device. The median weight was 14.2 kg (range 4.2-51.6 kg) and the median age was 4.12 years (range 0.25-11.83 years). All patients were on inotropes, five patients required mechanical ventilation and three patients experienced cardiopulmonary resuscitation. Results. Eight patients received a left ventricular assist device and four patients received a biventricular assist device. Of the 12 patients, 8 were bridge to heart transplantation, in 2 patients explantation was possible, and 1 patient died on support. The median support time for these 11 patients was 151 days (range 4-488 days), with 2124 days of cardiac support. One patient is on support. Survival rate was 91.6%. Seven patients had a blood pump change once. Four patients had local signs of infection. There was no mediastinitis and thromboembolism. One patient had intracerebral hemorrhage. There was no death after heart transplantation or after explantation of the device. Conclusions. The Berlin Heart EXCOR is effective in bridging children of almost all ages and sizes to cardiac transplantation or myocardial recovery. Our experience proved that long-term support is possible with a low rate of adverse events.