A CASE OF RARE INHERITED RESTRICTIVE CARDIOMYOPATHY CAUSED BY A NOVEL MUTATION IN MYH7 GENE

Introduction: Inherited restrictive cardiomyopathy (RCM) is a rare cause of RCM associated with cytoskeletal and sarcoma gene mutations. We describe case inherited due to MYH7s genetic mutation.Case description: A 66 year-old-woman was admitted for acute global heart failure. She had family history mutation MYH7 gene: sons sudden death at 30, one her daughters who 40 grandson 1. The transthoracic cardiac ultrasound (TTE) showed bi-atrial dilation, non-dilated left ventricle (LV) non-hypertrophied. Genetic investigation found the same pathogenic missense (c. 1477A>G in heterozygous state) our patient daughter has non-obstructive hypertrophy (HCM).A few weeks later, syncope on complete atrioventricular block. triple chamber pace maker installed. Discussion: Familial RCMs mutations are characterized by high allelic, phenotypic variability, autosomal dominant inheritance variable penetrance. This rarely RCM, it usually reported HCM (OMIM 160760). screening should be considered identify patients risk families suspected familial transmission. seem severe phenotypes, earlier age onset more pejorative evolution than other Conclusion:The evaluation requires an understanding its expression incomplete may coexist family. testing hereditary when secondary causes have been excluded.