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Sudden Cardiac Death in Arrhythmogenic Cardiomyopathy: a new undescribed mutation of the MYH6 gene
Session:
Casos Clinicos
Speaker:
Pedro Brás
Congress:
CPC 2020
Topic:
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Theme:
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Subtheme:
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Session Type:
Comunicações Orais
FP Number:
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Authors:
Pedro Garcia Brás; Sílvia Aguiar Rosa; Diana Antunes; Mafalda Santos Melo; José Miguel Viegas; Alexandra Castelo; Vera Ferreira; Tânia Branco Mano; João Pedro Reis; Rui Cruz Ferreira
Abstract
<p>The authors present the case of a 42 year-old female patient with known history of an atrial septal defect submitted to percutaneous closure, with unremarkable family history, referred to cardiomyopathy appointment after an episode of sudden cardiac death (SCD).</p> <p>The patient had a previous episode of SCD 2 years before, during tubal ligation surgery. Follow-up etiological study revealed no detectable cardiovascular disease.</p> <p>The second episode of SCD occurred during anaesthesia induction for elective termination of pregnancy, with ventricular fibrillation submitted to defibrillation (3 shocks). The patient was transported under cardiopulmonary resuscitation (CPR) to the Intensive Care Unit, where venoarterial extracorporeal membrane oxygenation (VA-ECMO) was implanted, totalling 57 minutes of CPR.</p> <p>The admission ECG showed a right bundle branch block and admission transthoracic echocardiography revealed a severely impaired LV function with apical and antero-mid segment hypokinesis and basal segment preserved contractility (Takotsubo-like). Coronary angiography excluded coronary disease.</p> <p>The patient presented a favourable evolution with ECMO decannulation and no neurological sequelae.</p> <p>Cardiac magnetic resonance imaging was performed 10 days after admission, showing preserved left ventricular function (ejection fraction 61%) with lateral wall hypokinesis and mild right ventricle (RV) dilatation, with preserved RV function. Intramural and subepicardial late gadolinium enhancement in the basal to mid inferolateral wall was noted.</p> <p>The patient was submitted to subcutaneous implantable cardioverter-defibrillator implantation and was discharged referred to Cardiology and Immunoallergology appointments.</p> <p>Allergy tests excluded the possibility of Kounis syndrome, as the patient showed tolerance to the anesthetics administered during both surgical procedures.</p> <p>Diagnosis of arrhythmogenic cardiomyopathy (ACM) was made. Follow-up ambulatory ECG showed low voltage QRS complexes in the limb leads, and a fragmented QRS complex in DIII lead, without repolarization abnormalities. 24h-Holter monitoring documented no ventricular ectopy.</p> <p>Genetic testing revealed a previously undescribed mutation in the MYH6 gene, c.3673G>T p. (Glu 1225*) – a variant of uncertain significance (VUS), not present in the population databases, that introduces a premature stop codon, originating a truncated protein.</p> <p>After multidisciplinary discussion with the Genetics department, the authors conclude this is likely a pathogenic variant of the MYH6 gene previously undescribed in ACM patients, and familial screening is currently being undertaken.</p> <p>This case highlights the importance of genetic testing in patients with cardiomyopathies, and the identification of new pathogenic variants may provide valuable insight in genetic testing in ACM patients as well as in familial screening.</p>
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