Diagnostic findings and outcome in children with primary restrictive cardiomyopathy

Abstract

SummaryRestrictive cardiomyopathy is a rare disease in children and adolescents. We have now encountered eight such cases in infants and children aged between nine months and 14 years. The reasons for admission to hospital were not very specific and included recurrent bronchitis, thoracic deformity, pathologic findings on routine electro-cardiography, or signs of cardiac failure. Despite two cases with atrial flutter, the characteristic electrocardiographic sign was a P-wave in lead II of about 0.6 to 1.5 m V. Echocardiographically, the leading feature was enlargement of the atriums, seen in cross-sectional and M-mode tracings. Diameters and functional parameters for the left ventricle, and the EF-slope of the mitral valve were normal. In four patients examined specifically for diis aspect, a typical E/A-ratio was found. Cardiac catheterization was performed in all patients. Left atrial or pulmonary capillary wedge pressures were all abnormal, and pulmonary arterial pressures ranged from 30 to 60 mm Hg. Calculated pulmonary resistances were 3 to 12 units per meter squared. End-diastolic left ventricular pressures were elevated, while comparable right-sided pressures were normal. Percutaneous endomyocardial biopsy was done in six patients and performed as an open biopsy in two. Only unspecified signs, such as myocytic hypertrophy or interstitial fibrosis, were found. At present, five of the children have died within two years of diagnosis. One boy has undergone cardiac transplantation success-fully. The two youngest children are still alive. As there is such a poor prognosis, and no alternative specific therapy is known, cardiac transplantation must be discussed with the family at an early stage, emphasizing its consequences.