Multifocal Ectopic Purkinje-related Premature Contractions (MEPPC) is a rare genetic arrhythmogenic syndrome caused by gain-of-function mutations in the SCN5A gene, leading to frequent multifocal premature ventricular contractions and risk of cardiomyopathy. We report a case highlighting the diagnostic and therapeutic challenges associated with unrecognized MEPPC. A 27-year-old woman presented with highly symptomatic ventricular and supraventricular arrhythmias and severe left ventricular dysfunction, refractory to conventional therapy and ablation. Initiation of flecainide resulted in immediate arrhythmia suppression and full recovery of cardiac function. Genetic testing revealed two SCN5A variants: a novel likely pathogenic p.(Val215Ala) located in a known MEPPC hotspot, and p.(Phe1570Cys), a variant with known loss-of-function properties, unlikely to be causative in MEPPC but potentially modulating the phenotype. This report underscores the importance of early recognition of MEPPC based on arrhythmic patterns and the critical role of targeted genetic testing in optimizing treatment strategies.
Chronic obstructive pulmonary disease (COPD) is a prevalent respiratory condition and a major cause of morbidity and mortality. Atrial fibrillation (AF) is the most common chronic arrhythmia in patients with and without COPD, with numerous factors contributing to its development. These include hypoxemia, hypercapnia, hyperinflammation and changes in cardiac geometry and autonomic function. The presence of COPD is associated with an elevated risk of thromboembolic events, recurrence of atrial fibrillation after cardioversion, and increased all-cause mortality. Conversely, AF itself further increases the risk of mortality in patients with COPD. Medications employed in the COPD treatment may have deleterious effects on AF, while medications used to treat AF have the potential to exacerbate COPD. The majority of bronchodilator agents have been observed to increase heart rate and induce AF episodes. However, antimuscarinic agents appear to be better tolerated than β-receptor agonists in COPD. It is imperative that the AF treatment be tailored to the individual needs of patients with COPD. The efficacy and safety of AF catheter ablation in cases with COPD appears to be well-established. Further research is warranted to develop appropriate AF screening protocols in COPD patients, incorporating artificial intelligence and telemonitoring, as well as to establish COPD-specific tools for estimating thromboembolic risk. This narrative review comprehensively explores the complex relationship between COPD and AF, incorporating the latest evidence and offering novel insights and updated perspectives.
Carotid sinus massage (CSM) is essential in evaluating recurrent unexplained reflex syncope, as it uniquely identifies cardioinhibitory forms that other tests may miss. CSM is largely underused in clinical practice outside dedicated syncope facilities and, when performed, its execution varies, as does the interpretation of results. Underuse affects the diagnostic yield of CSM in the syncope evaluation, thereby denying patients mechanism-based personalized treatment. There are several barriers to the proper use of CSM in the work-up of patients with unexplained syncope. To address these important limitations, an international panel of experts in the field of syncope provide herein a consensus document with the aim of offering practical guidance for the indications, contraindications, and methodology for performing carotid sinus massage in general and dedicated syncope facilities and in the emergency department.
AIMS:To characterise sex-specific patterns of bicuspid aortic valve (BAV) valvulo-aortopathy using consensus phenotyping and to assess how aortic normalisation strategies influence sex-related differences in aortic dimensions. METHODS AND RESULTS:We analysed 808 adults with BAV (mean age 49.9 ± 17.5 years; 588 men) from the RE-BAV registry. Valve morphology, aortopathy phenotypes, and clinical valvulo-aortopathy categories were classified according to consensus definitions. Typical and uncomplicated forms were additionally analysed together as a non-complex category. Proximal aortic dimensions were defined as the aortic root and ascending aorta.Valve morphology distribution did not differ by sex. Although the prevalence of aortic dilatation was similar, phenotype distribution differed: women more frequently exhibited the extended phenotype (34.7% vs 23.3%, p = 0.001), whereas the root phenotype was more common in men (15.1% vs 7.8%, p = 0.006). Moderate-to-severe aortic regurgitation was more prevalent in men (50.3% vs 29.1%, p < 0.001). Sex differences in proximal aortic dimensions varied by normalisation strategy. For the ascending aorta, indexing to body surface area yielded larger values in women (21.1 ± 4.0 vs 20.0 ± 4.0 mm/m2, p = 0.001), whereas diameter/height showed no sex-related difference at this level. Conversely, the cross-sectional area-to-height ratio remained higher in men across proximal segments, most prominently at the sinuses of Valsalva (6.9 ± 2.0 vs 5.6 ± 1.6 cm2/m, p < 0.001). Age was independently associated with larger proximal aortic dimensions across all strategies. CONCLUSION:Sex-related differences in BAV involved aortopathy phenotype, aortic regurgitation burden, and proximal aortic dimensions. Interpretation of proximal aortic dimensions depended on the normalisation strategy used, indicating that indexing methods should not be treated as interchangeable.
