Life-threatening arrhythmias with autosomal recessive TECRL variants.

AIMS: Sudden death and aborted sudden death have been observed in patients with biallelic variants in TECRL. However, phenotypes have only begun to be described and no data are available on medical therapy after long-term follow-up. METHODS AND RESULTS: An international, multi-centre retrospective review was conducted. We report new cases associated with TECRL variants and long-term follow-up from previously published cases. 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 (standard deviation 8.3), right censored by death in three 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 (CPVT) were observed. We also observed divergent phenotypes in some cases despite identical homozygous variants. None of 37 heterozygous family members had a cardiac phenotype. CONCLUSION: Patients with biallelic pathogenic TECRL variants present with variable cardiac arrhythmia phenotypes, including those typical of long QT syndrome and CPVT. 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.

Spontaneous echo contrast masking thrombus in giant left atrium of mitral stenosis-a dilemma in clinical diagnosis.

Spontaneous echo contrast (SEC) and thrombus in enlarged left atrium (LA) are common in mitral valvular disease (MVD) and SEC is considered to be a prethrombotic condition. Reliable exclusion of LA thrombus is important before any definitive curative attempts like percutaneous transluminal mitral commissurotomy (PTMC), closed mitral commissurotomy (CMC) or innovative therapies like pulmonary vein isolation and percutaneous closure of the LA appendage. Echocardiography, particularly the transesophageal echocardiography (TEE) is considered to be the gold standard for the diagnosis and to exclude LA thrombus. However, LA thrombus may remain rarely undetected even by TEE potentially making the interventions a risky job. We present a case of mitral stenosis (MS) with giant LA where profuse, dense SEC masked the underlying thrombus in the LA cavity.

Brugada syndrome with a novel missense mutation in SCN5A gene: a case report from Bangladesh.

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.