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Background Arrhythmogenic left ventricular cardiomyopathy (ALVC) is a left ventricle–dominant arrhythmogenic cardiomyopathy (ACM) subtype often associated with malignant ventricular arrhythmias, left ventricular (LV) scar and sudden cardiac death. Awareness about LV involvement is now on the rise. The diagnosis relies on structural abnormalities on cardiac magnetic resonance (CMR) imaging and known ACM-causing genetic mutations. Case summary A 28-year-old lady (Case 1) was referred for cardiac screening after her father passed away suddenly. Her paternal uncle (Case 2) had been diagnosed with supposed dilated cardiomyopathy prior to referral. Both cases were worked up extensively with an electrocardiogram (ECG), 24-h ambulatory ECG monitor, exercise testing, and CMR imaging. Investigations of Case 1 showed T-wave inversion in the infero-lateral leads and a ventricular ectopic burden of 3% on ambulatory monitoring. Cardiac magnetic resonance imaging revealed moderately reduced LV systolic function (ejection fraction of 40%) with circumferential macroscopic fibrosis. Her uncle (Case 2) also had an impaired and dilated ventricle with extensive scar on CMR. Following the recent introduction of a cardiogenetic service in our unit, both were heterozygous for a pathogenic Filamin-C variant (c.7384+1G>A). Based on CMR findings and genetic results, the diagnosis of both patients was deemed to be ALVC. After years of surveillance, Patient 1 now has an implantable cardioverter defibrillator (ICD) indication. Discussion The importance of diagnosing patients with ACM lies in the predisposition to sudden cardiac death. Gene-specific treatment algorithms in ACM may alter management strategies, including ICD implantation as primary prevention. An in-depth multidisciplinary discussion and respecting patient autonomy are key factors in any decision pertaining to ICD implantation. [ABSTRACT FROM AUTHOR]

Background: Patient empowerment is associated with improvements in different patient-reported and clinical outcomes. However, despite being widely researched, high quality and theoretically substantiated disease-generic measures of patient empowerment are lacking. The few good instruments that are available have not reported important psychometric properties, including measurement invariance. The aim of this study was to assess the psychometric properties of the 15-item Gothenburg Empowerment Scale (GES), with a particular focus on measurement invariance of the GES across individuals from three countries.Methods: Adults with congenital heart disease from Belgium, Norway and South Korea completed the GES and other patient-reported outcomes as part of an international, cross-sectional, descriptive study called APPROACH-IS II. The scale's content (missing data) and factorial validity (confirmatory factor analyses), measurement invariance (multi-group confirmatory factor analyses), responsiveness (floor and ceiling effects) and reliability (internal consistency) were assessed.Results: Content validity, responsiveness and reliability were confirmed. Nonetheless, metric but not scalar measurement invariance was supported when including the three countries, possibly because the scale performed differently in the sample from South Korea. A second set of analyses supported partial scalar invariance for a sample that was limited to Norway and Belgium.Conclusion: Our study offers preliminary evidence that GES is a valid and reliable measure of patient empowerment in adults with congenital heart disease. However, cross-country comparisons must be made with caution, given the scale did not perform equivalently across the three countries. [ABSTRACT FROM AUTHOR]

Objective: This population-based, retrospective study aimed to determine whether there was a drop in pediatric admissions during the first year of COVID-19 in Malta, as reported in other centers worldwide, as well as to determine any differences in patient characteristics when compared to the previous year. Materials and Methods: All unplanned pediatric medical admissions to Mater Dei Hospital from March 1, 2020 (a few days before the first case of COVID-19 in Malta) till February 28, 2021 (study period) and the corresponding period in 2019/20 (control period) and characteristics of patients admitted during the first 10 weeks (first wave of COVID-19) were analyzed. Results: Pediatric admissions dropped by 57.7% during the first year of COVID-19 (1601 vs. 3789 in 2019). During the first wave of COVID-19, a higher percentage of neonates were admitted in 2020 when compared to all other ages. There was a lower prevalence of respiratory illnesses during the first wave of COVID-19 (31.6% vs. 47.5% in 2019, P < .001), with a higher prevalence of cases related to child abuse or adverse socio-economic circumstances (2020, 9 [3.4%] vs 1 [0.1%] in 2019, P < .001). Following school closures, a drop in communicable disease admissions was recorded (68 [42.2%] vs. 421 [70.3%] in 2019, P < .001). A negative correlation between daily pediatric admissions and active COVID-19 cases in Malta was noted (r (68) = -0.33, P = .005). Conclusion: The drop in admissions likely represents fear of contracting COVID-19 in hospital environments, together with a decline in communicable diseases due to school closures. Guardians' concerns must be alleviated as best as possible by effective public health measures. [ABSTRACT FROM AUTHOR]

Introduction and Aims. The first COVID-19 case in Malta was confirmed on the 7th of March 2020. This study is aimed at investigating a significant difference between the number of acute exacerbations of chronic obstructive pulmonary disease (AECOPD) admissions and their inpatient outcome at Mater Dei Hospital during the COVID-19 pandemic when compared to the same period in 2019. Furthermore, we aim to determine predictors of mortality in AECOPD inpatients. Method. Data was collected retrospectively from electronic hospital records during the periods 1st March until 10th May in 2019 and 2020. Results. There was a marked decrease in AECOPD admissions in 2020, with a 54.2% drop in admissions (n = 119 in 2020 vs. n = 259 in 2019). There was no significant difference in patient demographics or medical comorbidities. In 2020, there was a significantly lower number of patients with AECOPD who received nebulised medications during admission (60.4% in 2020 vs. 84.9% in 2019; p ≤ 0.001). There were also significantly lower numbers of AECOPD patients admitted in 2020 who received controlled oxygen via venturi masks (69.0% in 2020 vs. 84.5% in 2019; p = 0.006). There was a significant increase in inpatient mortality in 2020 (19.3% [ n = 23 ] and 8.4% [ n = 22 ] for 2020 and 2019, respectively, p = 0.003). Year was found to be the best predictor of mortality outcome (p = 0.001). The lack of use of SABA pre-admission treatment (p = 0.002), active malignancy (p = 0.003), and increased length of hospital stay (p = 0.046) were also found to be predictors of mortality for AECOPD patients; however, these parameters were unchanged between 2019 and 2020 and therefore could not account for the increase in mortality. Conclusions. There was a decrease in the number of admissions with AECOPD in 2020 during the COVID-19 pandemic, when compared to 2019. The year 2020 proved to be a significant predictor for inpatient mortality, with a significant increase in mortality in 2020. The decrease in nebuliser and controlled oxygen treatment noted in the study period did not prove to be a significant predictor of mortality when corrected for other variables. Therefore, the difference in mortality cannot be explained with certainty in this retrospective cohort study. [ABSTRACT FROM AUTHOR]

Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a subtype of stiff-person syndrome (formerly stiff-man syndrome). It is rare and disabling, and characterised by brainstem symptoms, muscle stiffness, breathing issues and autonomic dysfunction. We describe a 65-year-old man who presented with odynophagia together with tongue and neck swelling, followed by multiple cranial nerve palsies culminating in bilateral vocal cord paralysis with acute stridor. He subsequently developed progressive generalised hypertonia and painful limb spasms. Serum antiglycine receptor antibody was strongly positive, but antiglutamic acid decarboxylase and other antibodies relating to stiff-person syndrome were negative. We diagnosed PERM and gave intravenous corticosteroids and immunoglobulins without benefit; however, following plasma exchange he has made a sustained improvement. [ABSTRACT FROM AUTHOR]

A 33-year-old man presented with a 3-week history of breathlessness and cough. He disclosed that he was informed regarding a heart defect as a child in his home country but was unaware of its nature and was never followed up. Examination revealed a pansystolic murmur (loudest at the apex), a hyperdynamic, displaced apex, and pulmonary oedema. An ECG showed atrial fibrillation with a regular broad-complex ventricular rhythm. Following electrical cardioversion, the ECG revealed complete heart block, therefore explaining the regular atrial fibrillation. An urgent transthoracic echocardiography (TTE) confirmed the anatomy of congenitally corrected transposition of the great arteries (CCTGA) with torrential tricuspid regurgitation and impaired systemic right ventricle. Cardiac MRI identified a ventricular septal defect which was not visible on TTE. The patient showed a transient improvement following fluid offloading and ACE inhibition, with a more definitive improvement after cardiac resynchronisation therapy (CRT). [ABSTRACT FROM AUTHOR]