Familial LEOPARD Syndrome With Hypertrophic Cardiomyopathy
Section snippets
Case Series
Patient 1 (proband) is a 31-year-old man with a history of biventricular hypertrophy status postbiventricular myectomy at age 4 with numerous lentigines and some café au lait spots covering most of his face, trunk, arms, and upper body (Figure 1). His echocardiogram revealed atypical pattern of severe left ventricular hypertrophy of the mid lateral and apical left ventricular wall segments with a maximal thickness of 30 mm (Figure 1). Cardiac magnetic resonance imaging demonstrated a similar
Discussion
Diagnostic criteria for LEOPARD syndrome were proposed by Voron et al in 1976 and include lentigines and 2 other recognized features of LEOPARD syndrome or a first-degree relative with lentigines and 3 other features in the patient.4 Typically, multiple lentigines appear during childhood and expand in number until puberty.5
The most common cardiac pathology that appears in LEOPARD syndrome is increased ventricular wall thickness.6 This hypertrophic cardiomyopathy phenotype was described in 1972
Disclosures
The authors have no conflicts of interest to disclose.
Acknowledgment
The authors are grateful to Jennifer Pfaff and Susan Nord of Aurora Cardiovascular and Thoracic Services for editorial preparation of the manuscript and Brian Miller and Brian Schurrer of Aurora Research Institute for assistance with the figures.
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