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Autoimmune polyglandular syndrome type 1 (APS1) – characterized by the triad of mucocutaneous candidiasis, hypoparathyroidism, and primary adrenal insufficiency – is an uncommon entity. In this case report we describe the case of a young girl who presented with classic features of APS1 and dilated cardiomyopathy, which were missed during her presentation to the children’s hospital. Her condition improved only when appropriate replacement therapy in the form of calcium, calcitriol and hydrocortisone was instituted. Hypocalcemia and hypocortisol state are curable causes of myocardial dysfunction and subsequent congestive cardiac failure, and should always be considered in the differential diagnosis of resistant congestive cardiac failure, especially in children. To the best of our knowledge, cardiomyopathy in the setting of APS1 has never been described previously and can remain unrecognized for a long time and present with life threatening complications.

journal of pediatric endocrinology and metabolism/journal of pediatric endocrinology and metabolism

Autoimmune polyglandular syndrome type 1 with reversible dilated cardiomyopathy: complete recovery after correction of hypocalcemia and hypocortisolemia