17-ketosteroids and Cardiomyopathy--Hypertrophic

The clinical and autopsy findings in a case of adrenocorticotropic hormone unresponsiveness associated with hypertrophic cardiomyopathy are reported. A four-month-old female with feeding difficulties and skin hyperpigmentation from two months of age was admitted with convulsions. She was hypoglycemic with normal serum electrolytes and the presence of hypertrophic cardiomyopathy was indicated by electrocardiogram and echocardiogram. Cardiac arrest occurred on the second hospital day. Low serum cortisol, high plasma adrenocorticotropic hormone, low urinary 17-ketosteroids, and normal urinary aldosterone excretion were documented after her death. Hypoplasia of the adrenal cortex with a persistent fetal zone and concentric hypertrophy of the heart were found at autopsy. We propose that the pathogenesis of this disease lies in impaired remodelling of the fetal adrenal cortex into the permanent cortex, and postulate an effect of adrenocorticotropic hormone on the myocardium as the cause of hypertrophic cardiomyopathy.

Topics: 17-Ketosteroids; Adrenal Glands; Adrenocorticotropic Hormone; Aldosterone; Cardiomyopathy, Hypertrophic; Echocardiography; Electrocardiography; Female; Humans; Infant; Myocardium