The LEOPARD syndrome: a rare condition associated with hypertrophic cardiomyopathy

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, café-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 mmHg, and systolic anterior movement of the mitral valve (Panel C). A right and left ventricular catheterization was performed, confirming the diagnosis of HOCM (Brockenbrough sign positive) (Panel D). Because of insufficient response to pharmacological therapy, we performed a TASH procedure (transcoronary alcohol septal ablation for hypertrophic cardiomyopathy). There was no pressure gradient in the LVOT left post-procedure, and the patient did clinically well without complaints of dyspnoea.