Background: Cardiomyopathy is a heterogeneous group of disorder of myocardium associated with mechanical and/or electrical dysfunction that usually exhibit inappropriate ventricular hypertrophy or dilatationleading to heart failure. Congenital adrenal hyperplasia (CAH) due to 11β-hydroxylase deficiency is rare inherited disorder of cortisol biosynthesis, due to genetic defects of CYP11B1 gene presenting as hypertension, features of androgen excess, and peripheral precocious puberty in children.
Objective and hypotheses: To demonstrate the association between dilated cardiomyopathy and CAH secondary to 11β-hydroxylase deficiency.
Method: Two year old boy born to non-consanguineous parents was diagnosed with CAH at 18 months of age when he presented with features of virilisation and hypertension.
Results: He also suffered from respiratory distress, tachycardia with gallop rhythm, and cardiogenic shock. Chest X-ray and 2D echocardiography suggested massive cardiomegaly and Doppler studies revealed dilated cardiomyopathy with significantly reduced left ventricular dysfunction (Ejection Fraction of 1520%). He was treated with furosemide, spironolactone, hydrocortisone and enalapril following which the blood pressure normalized and the repeat echocardiography suggested improvement in cardiac function (Ejection Fraction 36%).
Conclusion: We report a rare association of dilated cardiomyopathy with CAH due to 11β-hydroxylase deficiency. The cardiac function improved following hydrocortisone therapy suggesting the possible direct effect of corticosteroids on cardiac function. Animal studies have shown reduced cardiac muscle contractility following adrenalectomy which is reversible with the use of dexamethasone. Significant decrease in calcium uptake from sarcoplasmic reticulum could be potentially responsible for myocardial dysfunction.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology