HRCR Rare Diseases Article Collection
Idiopathic premature ventricular contraction–triggered ventricular fibrillation: Subcutaneous implantable cardioverter-defibrillator (S-ICD) template matched ablation in the absence of inducible clinical premature ventricular contraction
Idiopathic ventricular fibrillation is diagnosed in patients who have survived sudden cardiac arrest from ventricular fibrillation (VF) without identifiable structural heart disease.1 It is the main cause of unexplained sudden cardiac death, particularly in young patients under the age of 35.2 An implantable cardioverter-defibrillator (ICD) is usually recommended for the secondary prevention of sudden cardiac death. VF ablation is recommended for clinical VF recurrence and for reducing the number of ICD shocks.Ventricular fibrillation due to a likely pathogenic SOS1 variant: An unrecognized etiology of infantile sudden death?
We present the case of a female infant presenting after a ventricular fibrillation arrest found to have ectopic atrial tachycardia (EAT). Evaluation revealed a likely pathogenic variant in SOS1 not previously reported in affected individuals. SOS1 variants are associated with Noonan syndrome, which belongs to a family of related genetic syndromes affecting the RAS/MAPK signaling pathway. To date, this is the first case reported of a ventricular fibrillation arrest in a patient with a RASopathy-related variant prior to development of the typically associated structural cardiac phenotype and may represent a previously unrecognized etiology of sudden death during infancy.Ventricular fibrillation in Graves disease reveals a rare SCN5A mutation with W1191X variant associated with Brugada syndrome
Most thyrotoxicosis-related arrhythmias are supraventricular in origin. Ventricular arrhythmias, in the absence of underlying coronary disease or heart failure, are an unusual manifestation of thyrotoxicosis. We report a case of ventricular fibrillation (VF) in a patient with Graves’ hyperthyroidism who was later revealed to have a rare SCN5A mutation associated with Brugada syndrome (BrS).
