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An infant with Costelio syndrome complicated with fatal hypertrophic obstructive cardiomyopathy

We report a 3‐month‐old girl with Costelio syndrome complicating fatal hypertrophic obstructive cardio‐myopathy. She had typical findings of this syndrome, slight dyspnea and persistent wheezing. Doppler echocardiography revealed asymmetric septal hypertrophy and systolic anterior movement of the anterior mitral leaflet. There was grade 1 mitral regurgitation. Although once her heart failure had been controlled medically, she died suddenly following deterioration of her heart condition. Costelio syndrome can complicate fatal hypertrophic obstructive cardiomyopathy.