Introduction: Sudden death and aborted sudden death have been observed in patients with biallelic variants in TECRL . Phenotypes have only begun to be described and no data are available on medical therapy after long-term follow-up. Methods: An international, multicenter retrospective review was conducted. We report new cases associated with TECRL variants and long-term follow-up from previously published cases. Results: We present 10 cases and 37 asymptomatic heterozygous carriers. Median age at onset of cardiac symptoms was 8 years (range 1-22 years) and cases were followed for an average of 10.3 years (SD 8.3), right censored by death in 3 cases. All patients on metoprolol, bisoprolol or atenolol were transitioned to nadolol or propranolol due to failure of therapy. Phenotypes typical of both long QT syndrome and catecholaminergic polymorphic ventricular tachycardia were observed. We also observed divergent phenotypes in some cases despite identical homozygous variants. None of 37 heterozygous family members had a cardiac phenotype. Conclusions: Patients with biallelic pathogenic TECRL variants present with variable cardiac arrhythmia phenotypes, including those typical of long QT syndrome and catecholaminergic polymorphic ventricular tachycardia. Nadolol and propranolol may be superior beta-blockers in this setting. No cardiac disease or sudden death was present in patients with a heterozygous genotype.

Abstract Background: Delayed hospital presentation is a hindrance to the optimum clinical outcome of modern therapies of Myocardial infarction (MI). This study aimed to investigate the significant factors associated with prolonged pre-hospital delay and the impact of this delay on in-hospital mortality among patients with MI in Northern Bangladesh.Methods: This cross sectional study was conducted in December 2019 in cardiology ward of a 1000-bed tertiary care hospital of Bangladesh. Patients admitted in the ward with the diagnosis of myocardial infarction were included in the study. Socio demographic data, clinical features and patients’ health seeking behavior was collected in a structured questionnaire from the patients. Median with interquartile range (IQR) of pre hospital delay were calculated and compared between different groups. Chi-square (χ²) test and binary logistic regression were used to estimate the determinants of pre-hospital delay and effect of pre-hospital delay on in-hospital mortality.Results: 337 patients was enrolled in the study and their median (IQR) pre-hospital delay was 9.0 (13.0) hours. 39.5% patients admitted in the specialized hospital within 6 hours. In logistic regression, determinants of pre-hospital delay were patients age (for <40 years aOR 2.43, 95% CI 0.73-8.12; for 40 to 60 years aOR 0.44, 95% CI 0.21-0.93), family income (for lower income aOR 5.74, 95% CI 0.89-37.06; for middle income aOR 14.22, 95% CI 2.15-94.17), distance from primary care center £5 km (aOR 0.42, 95% CI 0.12-0.90), predominant chest pain (aOR 0.15, 95% CI 0.05-0.48), considering symptoms as non-significant (aOR 17.81, 95% CI 5.92-53.48), referral from primary care center (for government hospital aOR 4.45, 95% CI 2.03-9.74; for private hospital OR 98.67, 95% CI 11.87-820.34); (R2= 0.528) and not having family history of MI (aOR 2.65, 95% CI 1.24-5.71). Risk of in-hospital mortality was almost four times higher who admitted after 6 hours compared to their counterpart (aOR 0.28, 95% CI 0.12-0.66); (R2 =0.303).Conclusion: Some modifiable factors contribute to higher pre-hospital delay of MI patients, resulting in increased in-hospital mortality. Patients’ awareness about cardiovascular diseases and improved referral pathway of the existing health care system may reduce this unexpected delay.

Brugada syndrome is an inherited cardiac arrhythmia that follows autosomal dominant transmission and can cause sudden death. We report a case of Brugada syndrome in a 55-year-old male patient presented with recurrent palpitation, atypical chest pain and presyncope. ECG changes were consistent with type 1 Brugada. Gene analysis revealed a novel missense mutation in SCN5A gene with a genetic variation of D785N and a nucleotide change at 2353G-A. One of his children also had the same mutation. To our knowledge this is the first genetically proved case of Brugada syndrome in Bangladesh.

LEOPARD syndrome is a complex dysmorphogenetic disorder of variable penetrance and expressivity. Mutations in the PTPN11 gene are frequently reported in patients with Noonan syndrome (NS) and LEOPARD syndrome (LS). Q510E mutation in PTPN11 has always been associated with lethal or rapidly progressive hypertrophic cardiomyopathy both in NS and LS patients. Besides, deafness is also frequently present in these patients, but reproductive fitness is questioned.We herein describe a case of LEOPARD syndrome from Bangladesh with Q510E mutation in the PTPN11 gene. Our patient almost fulfilled the entire acronym of LEOPARD with very late presentation of hypertrophic cardiomyopathy at the age of 36 yrs. Interestingly patient has intact hearing and normal reproductive capacity, biologically fathered two children.

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