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.
Keywords: RV failure; arrhythmogenic right ventricular cardiomyopathy; cardiomyopathy; sacubitril–valsartan.
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.