A Rare Case of Left Ventricular Noncompaction in LEOPARD Syndrome

A 40-year-old man presented with palpitation for 2 days. His past medical history was unremarkable. Physical examination revealed that multiple lentigines of 5 mm to 15 mm that were black-brown in color, macule, flat, and scattered on the face, neck, trunk, and on both hands (Fig. 1A). Hypertelorism was found but there were no evidences of deafness, genital anomaly, and other dysmorphic features including face. His electrocardiography (ECG) indicated atrial fibrillation, left ventricular hypertrophy with a strain pattern (Fig. 1B). Transthoracic echocardiography and cardiac magnetic resonance imaging revealed left ventricular noncompaction (Fig. 1D, E, and F, Supplementary Movies 1, 2, and 3). Skin biopsy had no evidences of malignancies (Fig. 1C). In addition, other disease with hyper-pigmented skin lesions including Addison’s disease, hemochromatosis, and hyperthyroidism, were excluded. A p.Typ279Cys mutation in the Exon 7 of the PTPN 11 gene on Chromosome 12q24.1 was verified by polymerase chain reaction sequencing with a total of 15 exons. Finally, he was diagnosed as LEOPARD syndrome (LS) according to criteria proposed by Voron et al. LS is an autosomal dominant congenital disorder. The prevalence and incidence of LS are unclear. “LEOPARD” is an umbrella term for seven characteristic features: lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonary valve stenosis, abnormalities of the genitals, retarded growth, and deafness. Voron et al. proposed diagnostic criteria for LS that include 1 major criterion of multiple lentigines, at least 2 minor criteria (cardiac, ECG, genitourinary, endocrine, neurologic, cephalofacial or skeletal abnormalities), or 3 minor criteria. Hypertrophic cardiomyopathy, abnormal ECG, and pulmonary stenosis were common findings in LS. Interestingly, in pISSN 1975-4612 / eISSN 2005-9655 Copyright © 2018 Korean Society of Echocardiography www.kse-jcu.org https://doi.org/10.4250/jcu.2018.26.1.43