Hypertrophic Cardiomyopathy Complicated by Post-COVID-19 Myopericarditis in Patient with ANO5-Related Distal Myopathy

Author:

Blagova Olga1ORCID,Lutokhina Yulia1,Vukolova Marina2ORCID,Pirozhkov Sergey2,Sarkisova Natalia1,Ainetdinova Dilara1,Das Anushree3ORCID,Krot Marina4ORCID,Smolyannikova Vera4,Litvitsky Petr2,Zaklyazminskaya Elena56ORCID,Kogan Evgeniya4

Affiliation:

1. V.N. Vinogradov Faculty Therapeutic Clinic, I.M. Sechenov First Moscow State Medical University (Sechenov University), 119991 Moscow, Russia

2. Department of Pathophysiology, I.M. Sechenov First Moscow State Medical University (Sechenov University), 119991 Moscow, Russia

3. N.V. Sklifosovsky Institute of Clinical Medicine, I.M. Sechenov First Moscow State Medical University (Sechenov University), 119991 Moscow, Russia

4. Institute of Clinical Morphology and Digital Pathology, I.M. Sechenov First Moscow State Medical University (Sechenov University), 119991 Moscow, Russia

5. Laboratory of Medical Genetics, B.V. Petrovsky Russian Research Center of Surgery, 119991 Moscow, Russia

6. N.P. Bochkov Research Centre for Medical Genetics, 119991 Moscow, Russia

Abstract

A 60-year-old male with hypertrophic cardiomyopathy, conduction disorders, post-COVID-19 myopericarditis and heart failure was admitted to the hospital’s cardiology department. Blood tests revealed an increase in CPK activity, troponin T elevation and high titers of anticardiac antibodies. Whole exome sequencing showed the presence of the pathogenic variant NM_213599:c.2272C>T of the ANO5 gene. Results of the skeletal muscle biopsy excluded the diagnosis of systemic amyloidosis. Microscopy of the muscle fragment demonstrated sclerosis of the perimysium, moderate lymphoid infiltration, sclerosis of the microvessels, dystrophic changes and a lack of cross striations in the muscle fibers. Hypertrophy of the LV with a low contractile ability, atrial fibrillation, weakness of the distal skeletal muscles and increased plasma CPK activity and the results of the skeletal muscle biopsy suggested a diagnosis of a late form of distal myopathy (Miyoshi-like distal myopathy, MMD3). Post-COVID-19 myopericarditis, for which genetically modified myocardium could serve as a favorable background, caused heart failure decompensation.

Funder

Russian Academy of Science

Sechenov University Innovative Scientific School

Publisher

MDPI AG

Subject

Genetics (clinical),Genetics

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