Elsevier

The American Journal of Cardiology

Volume 135, 15 November 2020, Pages 168-173
The American Journal of Cardiology

Familial LEOPARD Syndrome With Hypertrophic Cardiomyopathy

https://doi.org/10.1016/j.amjcard.2020.08.027Get rights and content

Multiple lentigines syndrome is an autosomal dominant inherited condition with variable expressivity that is also known as LEOPARD syndrome. LEOPARD stands for lentigines, electrocardiographic conduction defects, ocular hypertelorism, pulmonary valve stenosis, abnormalities of genitalia, retardation of growth, and deafness. LEOPARD syndrome most frequently develops secondary to a missense mutation of protein-tyrosine phosphatase nonreceptor type 11 gene, which encodes tyrosine phosphatase. The missense mutation p.Tyr279Cys can either occur as a de novo mutation or affect multiple family members. Although hypertrophic cardiomyopathy is not part of the LEOPARD acronym, it is the most frequent cardiac anomaly observed in this syndrome. The recognition of increased left or right ventricular wall thickness in patients with LEOPARD syndrome may have significant impact on their clinical course similar to classic hypertrophic cardiomyopathy, which may require septal reduction procedures for relief of left or right ventricular outflow tract obstruction or implantable cardioverter-defibrillator placement for sudden cardiac death prevention. We describe a case series of a family with diffuse lentigines and hypertrophic cardiomyopathy in which the son carries the protein-tyrosine phosphatase nonreceptor type 11 (p.Tyr279Cys) gene mutation and both the son and daughter underwent left ventricular myectomy at an early age. In conclusion, our case series of a family with LEOPARD syndrome illustrates the importance of recognizing hypertrophic cardiomyopathy as part of this syndrome.

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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