Altered Splicing of LAMP2 in a Multigenerational Family from Latvia Affected by Danon Disease.

Background and Objectives: Danon disease is a multisystemic disorder associated with variants in the LAMP2 gene, mainly affecting the cardiac muscle. Here, we report a multigenerational family from Latvia with two male patients, hemizygous for a novel splice-affecting variant c.928+3A>G. Affected patients exhibit a cardiac phenotype, moderate mental disability, and mild retinal changes. Materials and Methods: Both patients underwent either exome or hypertrophic cardiomyopathy gene panel next-generation sequencing. The pathogenic variant effect was determined using reverse transcription, Sanger sequencing, and high-resolution electrophoresis. Results: Evaluation of the splicing process revealed that approximately 80% of the transcripts exhibited a lack of the entire exon 7. This alteration was predicted to cause a shift of the reading frame, consequently introducing a premature stop codon downstream in the sequence. Conclusions: Based on our data, we propose that c.928+3A>G is a pathogenic variant associated with Danon disease.

Cryoablation for treatment of cardiac arrhythmias: results of the European Heart Rhythm Association survey.

The purpose of this survey was to assess the current practice in Europe regarding cryoablation for treatment of different cardiac arrhythmias. The data are based on an electronic questionnaire sent to members of the European Heart Rhythm Association Research Network. Responses were received from 49 centres in 18 countries. The results show that cryoablation for supraventricular tachycardia in European centres is an alternative to radiofrequency ablation, which is in accordance with guidelines. There is reasonable consensus regarding clinical results and complications of cryoablation procedure. Some inter-centre variability with respect to patient selection and ablation strategy in cryoablation of atrial fibrillation was demonstrated, underscoring the need for further research.