ArticleOrphanet journal of rare diseases2026
Recovery of cardiac function in Desmin cardiomyopathy with medical therapy.
Article in Orphanet journal of rare diseases, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundDesmin cardiomyopathy is a rare hereditary cardiomyopathy caused by DES gene variants, often presenting with a spectrum of phenotypes and frequently associated with a poor prognosis.
resultsWe report a case of a 24-year-old asymptomatic male referred for abnormal electrocardiogram (ECG) findings. Subsequent investigations revealed worsening left ventricular function and elevated cardiac biomarkers. Diagnosis of Desmin cardiomyopathy was confirmed by cardiovascular magnetic resonance (CMR) showing a characteristic ring-like pattern of late gadolinium enhancement (LGE), endomyocardial biopsy, and genetic testing revealing DES and CRYAB variants. The patient declined device therapy and was treated with guideline-directed medical therapy (GDMT) in combination with vericiguat. At the 2-month follow-up, the left ventricular ejection fraction was normalized.
conclusionsEarly genetic testing and CMR facilitate diagnosing Desmin cardiomyopathy, and the use of GDMT in combination with vericiguat may lead to significant cardiac recovery.
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