Orphanet journal of rare diseases · 2026
Recovery of cardiac function in Desmin cardiomyopathy with medical therapy.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Yu Mengdi, Pu Lutong, Wang Jie, Chen Yucheng
Аннотация
BACKGROUND: Desmin 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.
RESULTS: We 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.
CONCLUSIONS: Early genetic testing and CMR facilitate diagnosing Desmin cardiomyopathy, and the use of GDMT in combination with vericiguat may lead to significant cardiac recovery.
RESULTS: We 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.
CONCLUSIONS: Early genetic testing and CMR facilitate diagnosing Desmin cardiomyopathy, and the use of GDMT in combination with vericiguat may lead to significant cardiac recovery.