Arrhythmogenic right ventricular (RV) cardiomyopathy is an autosomal dominant inherited cardiomyopathy that is characterized by an increased risk of ventricular arrhythmias, sudden cardiac death and, less commonly, heart failure. The authors present the case of a 36-year-old woman with familial lamin cardiomyopathy with positive LMNA mutation and genetic testing revealing LMNA and TMEM43 mutations consistent with arrhythmogenic RV cardiomyopathy. The patient presented with clinical signs of RV failure. Transthoracic echocardiogram showed newly reduced RV function in the absence of left ventricular involvement. Cardiac MRI demonstrated diffuse late gadolinium enhancement of the mid-level and apical RV anterior free wall. Diuretics were started, and sacubitril–valsartan was added when the patient's symptoms persisted. Diuretics were then discontinued, and sacubitril–valsartan was the primary therapy. This is the first reported case of symptomatic and imaging-proven RV recovery in a patient with symptomatic RV failure in the setting of arrhythmogenic RV cardiomyopathy treated with sacubitril–valsartan.

Plain language summary

The authors present the case of a 36-year-old woman who was found to have arrhythmogenic right ventricular cardiomyopathy, a rare inherited cardiomyopathy. This condition is caused by various mutations that lead to cardiac muscle cells being replaced with fibrofatty tissue and manifests as heart arrhythmias, sudden cardiac death or heart failure. The patient presented with symptoms of right heart failure. Imaging found a new reduction in right ventricular function, confirming the diagnosis of right heart failure. The patient was treated initially with diuretics. However, her symptoms persisted despite treatment and sacubitril–valsartan was started, after which she symptomatically improved. Repeat imaging showed improvement in right ventricular function with sacubitril–valsartan therapy.

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Vol. 18, No. 7

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History

Received 15 December 2021

Accepted 5 May 2022

Published online 15 June 2022

Published in print July 2022

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Financial & competing interests disclosure

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending or royalties.

No writing assistance was utilized in the production of this manuscript.

Informed consent disclosure

The authors state that they have obtained verbal informed consent from the patient for the inclusion of their medical and treatment history within this case report.

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