Asymmetric septal hypertrophy in Kearns-Sayre syndrome

Kearns-Sayre syndrome was diagnosed in a 40-year-old female patient admitted for evaluation of symptomatic bradycardia. In addition to the classic triad--external ophthalmoplegia, pigmentary retinopathy, and heart block--she also had secondary amenorrhea, hearing loss, diabetes, and increased concentrations of blood lactate and pyruvate as manifestations of this multisystem disease. The echocardiographic examination disclosed asymmetric septal hypertrophy with a septal diastolic thickness of 17 mm and a septum to free wall ratio of 1.5. The left ventricular size and function were normal. Thus, asymmetric septal hypertrophy may represent subclinical heart muscle involvement in Kearns-Sayre syndrome.