P120 NEW MALIGNANT MUTATION IN HYPERTROPHIC CARDIOMYOPATHY

Abstract A 62–year–old man diagnosed with non–obstructive hypertrophic cardiomyopathy and dual–chamber pacemaker wearer since the age of 40, for third–degree atrioventricular block, came to our attention atrial fibrillation (AF) episodes (one complicated by cardiogenic shock multiorgan failure) flutter high ventricular response. For a progressive worsening systolic function, onset multiple sustained tachycardia, an upgrade defibrillator was performed, which, in following months, intervened appropriately recurrences arrhythmias. The patient admitted ward exacerbation heart failure. echocardiography showed moderate concentric hypertrophy mild dilatation ejection fraction 33%, inferior inferoseptal wall, apex akinesia thrombotic apposition. Due sudden deterioration clinical conditions, died. After genetic counseling patient‘s family agreed testing proband. This highlighted presence missense mutation, i.e. substitution cysteine ​​residue serine, codon 905 MYH7 gene, encoding cardiac isoform myosin heavy chain. mutation is probably pathogenetic as it falls region where most variants are clustered statistically associated HCM phenotype. Only one previous case detected same codon, Cys905Phe. Several studies have reported that AF tends be more prevalent patients carrying mutations substantial risk failure–related mortality, stroke, severe functional disability. Knowledge entire spectrum mutations, especially those related arrhythmic burden or SCD, combined accurate molecular characterization patient, can improve genotype–phenotype correlation clarifying mechanism allowing better therapeutic decision–making patients.