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Introduction: Inherited restrictive cardiomyopathy (RCM) is a rare cause of RCM associated with cytoskeletal and sarcoma gene mutations. We describe a case of inherited RCM due to MYH7s genetic mutation.Case description: A 66 year-old-woman was admitted for acute global heart failure. She had a family history of RCM with a mutation of MYH7 gene: sons sudden death at 30, one of her daughters who is 40 and grandson who is 1. The transthoracic cardiac ultrasound (TTE) showed a bi-atrial dilation, a non-dilated left ventricle (LV) non-hypertrophied. Genetic investigation found the same pathogenic missense mutation (c. 1477A>G in heterozygous state) in our patient and her daughter who has a non-obstructive hypertrophy cardiomyopathy (HCM).A few weeks later, our patient had a syncope on complete atrioventricular block. A triple chamber pace maker was installed.
Alan : Sosyal, Beşeri ve İdari Bilimler
Dergi Türü : Uluslararası
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