An unusual genetic observation in a case of short-coupled PVC-triggered ventricular fibrillation

Ventricular fibrillation induced by short-coupled premature ventricular complex is an uncommon cause of cardiac arrest in young individuals with no structural heart disease. The genetic substrate of this condition is heterogeneous and remains incompletely defined. We describe a case of short-coupled premature ventricular complex-triggered ventricular fibrillation with a likely pathogenic variant in the titin (TTN) gene. (Level of Difficulty: Advanced.)

Lung ultrasound evaluation of diabetic patients with acute onset dyspnea and its relationship with established markers of heart failure

Objective: The aim of the study was to assess the interrelation between sonographic pleural B-Line, left ventricular function and Naturetic Peptides in type 2 Diabetics with acute onset class III-IV dyspnea. There is dearth of data in this subset of patients in Asian population. Methods: Subjects (n = 73) were divided into those with pleural B line (Group A, n = 41) and those without (Group B) and their serum B type Naturetic Peptide (BNP) and Echocardiography evaluated. Results: The serum BNP was significantly higher and mean Left Ventricular Ejection Fraction (LVEF) lower in Group A compared to Group B (p < 0.001). There was a significant negative correlation between LVEF and BNP and positive correlation between E/E’ and BNP. Among patients with LVEF 40% and above (n = 36), patients with B line had significantly higher BNP and E/E’ compared to those without. Group A had significantly more patients on insulin therapy and troponin positivity than Group B (p < 0.01). On auscultation though crepitations was found more frequently in group A but it was present in only 50% of the subset. Conclusion: Pleural B-Lines, LVEF and mitral inflow E/septal E’ can be used to rule in heart failure in the above population. Keywords: Sonographic B line, Diabetes mellitus, Heart failur

Case Report - Rare thoracic mass lesion - Myofibrobastoma

Mesenchymal soft tissue masses are uncommon tumours of the chest. Myofibroblastoma is a recently described entity consisting of cells with origin from the myoepethelial cell, mostly seen as benign well-circumscribed neoplasms of the breast tissue. Though usually classified as a benign lesion, rarely it can be multifocal and prone to recurrence. We describe below the case of a 26-year-old female who presented with exertional dyspnoea and evidence of a massive mass lesion in the left hemithorax causing mediastinal displacement to the opposite side. On histological and immunophenotypic analysis, a diagnosis of the very rare thoracic myofibroblastoma was made. The incidence, salient features, pathological differential diagnoses and treatment are reviewed

Case Report - Rare thoracic mass lesion - Myofibrobastoma

Mesenchymal soft tissue masses are uncommon tumours of the chest. Myofibroblastoma is a recently described entity consisting of cells with origin from the myoepethelial cell, mostly seen as benign well-circumscribed neoplasms of the breast tissue. Though usually classified as a benign lesion, rarely it can be multifocal and prone to recurrence. We describe below the case of a 26-year-old female who presented with exertional dyspnoea and evidence of a massive mass lesion in the left hemithorax causing mediastinal displacement to the opposite side. On histological and immunophenotypic analysis, a diagnosis of the very rare thoracic myofibroblastoma was made. The incidence, salient features, pathological differential diagnoses and treatment are reviewed

β-T594M epithelial sodium channel gene polymorphism and essential hypertension in individuals of Indo-Aryan ancestry in Northern India

Background: The T594M variant of the β-subunit of the sodium epithelial channel (ENaC) gene may contribute to hypertension in individuals of Indo-Aryan origin. Methods: Present study was performed to assess the role of the ENaC gene variant as an independent risk factor for hypertension in subjects of Indo-Aryan ancestry. A total of 150 patients of recently detected essential hypertension and 150 matched controls were genotyped for the T594M polymorphism of the ENaC gene by PCR–RFLP method. Results: β-T594M mutation was found to be non-polymorphic. There was major genotype call in both the groups i.e. cases and controls. Other phenotypic parameters like age, sex and body mass index were also similar among hypertensive patients and controls (P > 0.05). Hypertensive patients had significantly higher total cholesterol and triglycerides compared with controls (P < 0.0001). Conclusion: These results do not suggest an important role for the T594M variant of the ENaC gene contributing to either the development or severity of hypertension in subjects of Indo-Aryan ancestry

Impact of COVID-19 on heart failure hospitalization and outcome in India – A cardiological society of India study (CSI–HF in COVID 19 times study – “The COVID C–HF study”)

Objectives: The presentation and outcomes of acute decompensated heart failure (ADHF) during COVID times (June 2020 to Dec 2020) were compared with the historical control during the same period in 2019. Methods: Data of 4806 consecutive patients of acute HF admitted in 22 centres in the country were collected during this period. The admission patterns, aetiology, outcomes, prescription of guideline-directed medical therapy (GDMT) and interventions were analysed in this retrospective study. Results: Admissions for acute heart failure during the pandemic period in 2020 decreased by 20% compared to the corresponding six-month period in 2019, with numbers dropping from 2675 to 2131. However, no difference in the epidemiology was seen. The mean age of presentation in 2019 was 61.75 (±13.7) years, and 59.97 (±14.6) years in 2020. There was a significant decrease in the mean age of presentation (p = 0.001). Also. the proportion of male patients decreased significantly from 68.67% to 65.84% (p = 0.037). The in-hospital mortality for acute heart failure did not differ significantly between 2019 and 2020 (4.19% and 4.,97%) respectively (p = 0.19). The proportion of patients with HFrEF did not change in 2020 compared to 2019 (76.82% vs 75.74%, respectively). The average duration of hospital stay was 6.5 days. Conclusion: The outcomes of ADHF patients admitted during the Covid pandemic did not differ significantly. The length of hospital stay remained the same. The study highlighted the sub-optimal use of GDMT, though slightly improving over the last few years