LEOPARD Syndrome: a rare association with hypertrophic cardiomyopathy

Description of Clinical Presentation: A 41-year-old woman with a history of subaortic stenosis corrected surgically at age 17 was diagnosed with LEOPARD syndrome via genetic testing and is under follow-up at a congenital heart disease clinic. She was asymptomatic at presentation, and imaging was requested as part of routine surveillance.

Diagnostic Techniques and Their Most Important Findings: A transthoracic echocardiogram (TTE) showed hypertrophy of the basal and mid-septum, with a maximum thickness of 20 mm and systolic anterior motion (SAM) of the mitral valve, producing a left ventricular outflow tract (LVOT) gradient of 7 mmHg. Cardiac magnetic resonance imaging (CMR) confirmed septal hypertrophy and revealed myocardial fibrosis in the basal anteroseptal wall and apical lateral segment. The fibrosis mass was estimated at 17% using late gadolinium enhancement (LGE). These findings supported the diagnosis of hypertrophic cardiomyopathy (HCM) associated with LEOPARD syndrome.

Learning Points from this Case: LEOPARD syndrome (LS) is a rare genetic disorder characterized by cutaneous, craniofacial, and cardiovascular abnormalities. HCM is its most frequent cardiac manifestation and can significantly affect prognosis. TTE is essential for detecting ventricular hypertrophy and LVOT obstruction, while CMR plays a complementary role by accurately assessing myocardial fibrosis. Fibrosis ≥10% by LGE is associated with higher risk of arrhythmias and adverse outcomes. This case illustrates the importance of multimodal imaging in the evaluation and risk stratification of patients with LS and HCM, particularly in asymptomatic individuals, where imaging findings may guide clinical management and surveillance.

Septal hypertrophy involving the basal and mid segments, measuring up to 20 mm
Septal hypertrophy
Fibrosis in the basal anteroseptal wall segment and in the apical lateral wall segment, with an estimated fibrosis mass of 17%