Heart transplantation in juvenile-onset systemic sclerosis with primary cardiac involvement: report of two cases and comprehensive literature review

Juvenile onset systemic sclerosis is a rare chronic multisystem connective tissue disease characterized by skin induration, microangiopathy, autoimmune disturbances and widespread fibrosis of internal organs. Primary cardiac involvement in systemic sclerosis (SSc) is associated with a variable phenotype, including heart failure and arrhythmias, which lead to poor short-term prognosis. Isolated heart transplantation is a rare approach for the treatment of advanced heart failure in patients with systemic sclerosis. We report on two juvenile SSc patients receiving cardiac transplantation due to heart failure with malignant arrhythmias. One patient presented with severe dilated cardiomyopathy with recurrent ventricular tachycardia. Following the appearance of Raynaud phenomenon, he was subsequently diagnosed a rare form of systemic sclerosis sine scleroderma, without cutaneous manifestations or other organs involved. His cardiac condition was unresponsive to antiarrhythmic therapy and immunosuppression used to treat SSc, therefore he underwent successful heart transplantation. The second patient presented diffuse scleroderma with mild pulmonary, esophageal and renal involvement. While extracardiac manifestations were effectively kept under control with immunosuppressive therapy, cardiac involvement rapidly progressed with detection of fibrosis at cardiac magnetic resonance imaging and appearance of severe ventricular arrhythmia. Herein, an extensive multidisciplinary evaluation was pivotal in defining the entity and clinical stability of extracardiac involvement, and thus the patient could profit from heart transplantation. Our experience highlights the importance of considering heart transplantation in carefully selected SSc patients with primary cardiac involvement as a lifesaving procedure.