Systemic sclerosis complicated by arrhythmogenic right ventricular cardiomyopathy in a Chinese middle-aged female

Abstract

A 59-year-old Chinese woman presenting with shortness of breath after exertion, pitting oedema of the lower extremities and Raynaud’s phenomenon was evaluated. Strongly positive ANA and anti-Scl-70 antibodies were found in serologic tests. Echocardiogram showed enlarged right ventricle and atrium as well as severe systolic dysfunction of both ventricles but without pulmonary arterial hypertension. Cardiac magnetic resonance showed diffused late gadolinium enhancement in both ventricular walls. Electrocardiograph showed Epsilon waves in the right precordial leads V1 and V2, and >500 ventricular extrasystoles per 24 hours (Holter). The initial diagnosis was Systemic Sclerosis (SSc) with cardiac involvement, but considering the family history of heart failure, the gene scanning was performed which revealed a novel DSG2 missense mutation in this patient and her siblings. This patient was ultimately diagnosed as SSc complicated by Arrhythmogenic right ventricular cardiomyopathy (ARVC). This is the first case of Chinese patient with this overlap syndrome.

Keywords:

• Arrhythmogenic right ventricular cardiomyopathy
• desmosome
• desmoglein 2
• systemic sclerosis

Conflict of interest

None.

Additional information

Funding

This work was funded by the National Key Technology R&D Program of China (2012BAI09B05), the Public Science and Technology Research Funds Projects of Health, and Peking Union Medical College (PUMC) Youth Fund and the Fundamental Research Funds for Central Universities. Shikun Ma is supported by National Natural Science Foundation of China (No. 81401327).