Vol 29, No 3 (2022)
Image in Cardiovascular Medicine
Published online: 2022-05-31

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Early detection of cardiac involvement of desminopathy by cardiovascular magnetic resonance

Martyna Faber1, Teresa Trenkwalder2, Federica Montagnese3, Heiko Stern4, Christian Meierhofer
Pubmed: 35652143
Cardiol J 2022;29(3):529-530.

Abstract

Not available

IMAGE IN CARDIOVASCULAR MEDICINE

clinicAL CARDIOLOGY

Early detection of cardiac involvement of desminopathy by cardiovascular magnetic resonance

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Cardiology Journal 2022, Vol. 29, No. 3, 529–530

DOI: 10.5603/CJ.2022.0043 Copyright © 2022 Via Medica

ISSN 1897–5593 eISSN 1898018X

Martyna Faber1Teresa Trenkwalder2Federica Montagnese3Heiko Stern4Christian Meierhofer4
1Department of Radiology, German Heart Center Munich, Technical Universitiy of Munich, Germany
2Department of Cardiology, German Heart Center Munich, Technical Universitiy of Munich, Germany
3Department of Myopathology, Friedrich-Baur-Institute, Department of Neurology, LMU Klinikum Munich, Germany
4Department of Congenital Heart Disease and Pediatric Cardiology, German Heart Center Munich, Technical Universitiy of Munich, Germany

Address for correspondence: Martyna Faber, MD, Department of Radiology, German Heart Center Munich, Technical Universitiy of Munich, Lazarettstrasse 36, 80636 Munich, Germany, e-mail: martyna.faber89@gmail.com

Received: 25.05.2021 Accepted: 20.07.2021

This article is available in open access under Creative Common Attribution-Non-Commercial-No Derivatives 4.0 International (CC BY-NC-ND 4.0) license, allowing to download articles and share them with others as long as they credit the authors and the publisher, but without permission to change them in any way or use them commercially.

A 42-year-old man presented with loss of muscle strength and aching in the calves. Skeletal muscle biopsy of anterior tibial muscle showed a myofibrillar myopathy with increased endo- and perimysial connective tissue, centralized myonuclei, and intracellular rimmed vacuoles (Fig. 1C, D). Molecular genetic analysis detected classic R350P-desmin gene mutation, causing an autosomal-dominant desminopathy.

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Figure 1. Cardiac and skeletal muscle involvement in autosomal-dominant desminopathy. Cardiac magnetic resonance imaging: Extracellular volume map (A); polarmap (B). Skeletal muscle biopsy: hematoxylin and eosin stain (C) and van Gieson stain (D).

Cardiac examinations were performed. Transthoracic echocardiogram was unremarkable with normal biventricular function, electrocardiogram revealed a slightly prolonged PQ-time but no pronounced arrhythmia.

Cardiovascular magnetic resonance showed no late-gadolinium-enhancement. Pre- and postcontrast T1-mapping was performed using modified look-locker-inversion-sequence (MOLLI, Myomaps, Siemens healthineers). T1-relaxation-times were located in the upper normal range with values between 940 and 1000 ms. Extracellular volume fraction (ECV) was calculated by using T1-map pre and post contrast. The patient’s hematocrit was measured on the examination day. ECV-maps (Fig. 1A) and polarmaps (Fig. 1B) were generated to visualize ECV results in left ventricular myocardial segments. ECV ranged between 25.1% and 34.7% (normal up to 29%) in the different cardiac segments, with higher values in the apical myocardium. As these findings are compatible with the myopathological changes of increased deposit of connective tissue in the endo- and perimysium, these are suspicions for early stage of cardiac involvement in desminopathy. Cardiac magnetic resonance proved to be a sensitive diagnostic tool for early cardiac involvement in desminopathy, which have not yet been revealed by other non-invasive methods.

Desminopathies belong to a genetically heterogeneous group of disorders named myofibrillar myopathies, which might be caused by mutations in the desmin gene, but may also affect other adjacent genes.

Conflict of interest: None declared