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Arrhythmogenic cardiomyopathy (ACM) may present with sudden cardiac arrest (SCA), and demonstration of a pathogenic variant in ACM-related genes is crucial for its definitive diagnosis. A 42-year-old female patient with family history of sudden cardiac death (SCD) was referred to the cardiomyopathy clinic after two episodes of aborted SCA. In the second episode, the patient was transported under cardiopulmonary resuscitation (downtime of 57 min) until extracorporeal membrane oxygenation was implanted. A thorough diagnostic work-up led to a diagnosis of biventricular ACM. Genetic testing revealed a previously undescribed variant in ACM patients in the MYH6 gene, c.3673G>T p.(Glu 1225*), which inserts a premature stop codon. This was considered a possible pathogenic variant originating a truncated protein, previously undescribed in ACM. The patient’s 23-year-old daughter was positive for the MYH6 variant and had ECG abnormalities suggestive of ACM. This case details the complex differential diagnosis of SCA and explores the current recommendations for the diagnosis of biventricular ACM. The identification of a MYH6 variant in a patient with ACM, recurrent SCA, and family history of SCD appears to support the hypothesis of the pathogenicity of MYH6 variants in ACM, in which the association of phenotype with sarcomere variants is still unclear. [ABSTRACT FROM AUTHOR]

Background Risk stratification for sudden cardiac death (SCD) is a key factor in the management of patients with hypertrophic cardiomyopathy (HCM). Cardiac magnetic resonance (CMR) has a unique role in the evaluation of HCM and offers superior diagnostic and prognostic information to assess the indication for a prophylactic implantable cardioverter-defibrillator (ICD). Case summary A 39-year-old patient with non-obstructive HCM with a low ESC HCM Risk-SCD score underwent a CMR revealing a left ventricular apical aneurysm and extensive late gadolinium enhancement; a prophylactic ICD was thus implanted. A month later, the patient was admitted in refractory electrical storm with over 50 appropriate ICD shocks due to sustained ventricular tachycardia. Despite anti-arrhythmic therapy and mechanical ventilation, the evolution was unfavourable with haemodynamic instability; veno-arterial extracorporeal membrane oxygenation was implanted. The patient was submitted to CMR-guided epicardial VT catheter ablation with complications of LV thrombus and severe pericardial effusion. Discussion This case details the complex risk stratification for SCD in patients with HCM, highlighting the important role of CMR in the integrated approach to risk stratification. [ABSTRACT FROM AUTHOR]