Abstract
A 66-year-old woman, known for years with LEOPARD syndrome (LEOPARD stands for multiple Lentigines, Electrocardiographic conduction defects; Ocular hypertelorism; Pulmonary stenosis; Abnormalities of the genitalia; Retardation of growth and sensorineural Deafness), presented with complaints of progressive dyspnoea over the course of the last months. The physical examination revealed multiple lentigines, cafe-au-lait spots (Panel A), and pectus excavatum. The 12-lead ECG (Panel B) showed left-axis deviation, ST-segment abnormalities, and T-wave inversion. An echocardiographic analysis confirmed the diagnosis of hypertrophic obstructive cardiomyopathy (HOCM) with a maximal septal wall thickness of 19 mm, a left ventricular outflow tract (LVOT) dynamic gradient of 73 …
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