The clinical utility of direct His-bundle pacing in patients with heart failure and permanent atrial fibrillation.

In patients with significantly impaired left ventricle function permanent atrial fibrillation (AF) often coexists with symptoms of heart failure. Based on various studies, it is assumed that in patients with heart failure in functional class III and IV AF occurs in 40-50% of patients. AF adversely affects cardiac hemodynamics, and its harmfulness increases particularly in the failing heart. The lack of mechanical function of the left atrium, the usually fast ventricular rate and the irregular sequence of ventricular contraction constitute the spectrum of harmful effects of this arrhythmia. Therefore, the only way to address the underlying problem of AF, which is irregular ventricular rhythm, is to pace the ventricles and to slow or block the AV conduction. Classic, right ventricular pacing is contraindicated in this population as it promotes the abovementioned disorders by initiating additional dyssynchrony of left ventricular contraction with reduction of its contractility and aggravation of AF-related mitral regurgitation. The possibility of direct His bundle pacing (DHBP) significantly extended the clinical armamentarium of cardiac pacing. The restoration of the physiological electrical activation could significantly contribute to echocardiographic and clinical improvement. With time and the development of dedicated tools for direct His bundle pacing the success rate of implantations became more than 90% and the acceptable pacing thresholds under 2.0 V (1 ms) could be achieved in most patients. This contributed to the broader clinical application of DHBP in different patient' groups with various pacing indications. The authors of the paper discuss different electrocardiographic and clinical indications for DHBP.

Intermuscular technique for implantation of the subcutaneous implantable cardioverter defibrillator: long-term performance and complications.

AIMS: The subcutaneous cardioverter defibrillator was designed to overcome electrode complications of transvenous defibrillation systems. While largely achieved, pocket complications have increased. Subcutaneous implantation of the pulse generator leaves it prone to erosion, extrusion, discomfort, and poor cosmesis. METHODS AND RESULTS: We use a demonstration electrode and pulse generator with fluoroscopy, prior to prepping and draping, to maximize the left ventricular mass between them. We adapted a submuscular abdominal ICD technique to implant the S-ICD intermuscularly between the anterior surface of serratus anterior and the posterior surface of latissimus dorsi. Surgery in our patients beyond the subcutaneous tissue was bloodless, as muscle layers were carefully separated but not incised, which also protected the long thoracic nerve. Two layers of muscle protect the pulse generator. We have implanted 82 consecutive patients with this technique, taking ∼65 min. All patients were converted with 65 J standard polarity shock during induced arrhythmia conversion testing, with six (7.3%) patients requiring a repositioning of the pulse generator prior to successful conversion. Seven spontaneous episodes of ventricular fibrillation were detected in three (3.6%) patients, all successfully converted back to sinus rhythm. Long-term patient outcomes have been good with low complication rates over the mean ± standard deviation 3.6 ± 1.2 years. CONCLUSION: Our intermuscular technique and implant methodology is successful for placement of the subcutaneous defibrillator pulse generator. Our technique leads to an excellent cosmetic result and high levels of patient satisfaction. Rates of first shock conversion during defibrillation testing, inappropriate shocks, and complications during follow-up compare favourably with previous published case series. There were no left arm movement limitations post-operatively.

Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders?

The aim of the study is to validate the etiological role of KIAA0027/MLC1 in childhood-onset megalencephalic leukoencephalopathy with subcortical cysts (MLC) and in schizophrenia, particularly the catatonic subtype, which were reported to be allelic diseases. Among a series of five patients with MLC, four mutant alleles were detected: one case of compound heterozygosity for a splice site mutation and a six-base-pair in-frame deletion, one patient with a homozygous frameshifting insertion-deletion, and a further case heterozygous for a A157E substitution. A systematic mutation screening in 140 index cases with schizophrenia revealed 13 different single nucleotide polymorphisms (SNPs): one SNP in the 5'-UTR, seven SNPs in intronic regions, two synonymous codon variants (T52, Y199), and three coding variants. Two of them, C171F and N218K, were observed in controls at a significant frequency. The L309M variant that was previously supposed to be the causative factor for chromosome 22q(tel) linked-periodic catatonia was found nonsegregating in a further multiplex pedigree. Furthermore, a complicated 33-bp insertion/deletion polymorphism at the 5'-end of exon 11 of MLC1 was found at equal frequency among schizophrenic patients and controls. In summary, our study provides further evidence for allelic heterogeneity in megalencephalic leukoencephalopathy, excludes MLC1 as a susceptibility locus for schizophrenia, and thereby rules out that MLC and schizophrenia are allelic disorders.