Restrictive cardiomyopathy in childhood treated by orthotopic heart transplantation

Among cardiomyopathies the restrictive form is the rarest one. Its prognosis is poor, there is no effective conservative treatment. The disease has usually an insidious onset at toddler's or school age with uncharacteristic signs such as permanent cough or hepatomegaly. We report about a 2-year-old boy who initially presented respiratory symptoms prior to initiating a cardiologic examination. The ECG revealed signs of a significant bilateral atrial enlargement, further specialized cardiologic investigations confirmed the diagnosis. Having only moderate pulmonary hypertension and resistance he succesfully underwent an orthotopic heart transplantation which is currently the only treatment. It is crucial for the success of the th era py to make the diagnosis in time and to decide early about the transplantation. Giving a reliable long term prognosis of the patient is difficult because sufficient clinical expertise is still missing. Conclusion: In restrictive cardiomyopathy in childhood with natural downhill course the timely orthotopic heart transplantation is currently considered to be the only promising therapy.