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The patient had hypertrophic cardiomyopathy and widespread lentigenes. There was no family history of sudden cardiac death but the patient reported that his father and grandfather also had widespread lentigenes. The patient presented clinical characteristics consistent with a diagnosis of LEOPARD syndrome, which was first described by Gorlin et al. in 1969 and initially named “The multiple lentigenes syndrome”. The condition was renamed in 1971 using the acronym LEOPARD (Lentigines, Electrocardiographic abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormalities of the genitalia, Retardation of growth and Deafness) (1). Voron et al. further developed the diagnostic criteria in 1976 to include multiple lentigenes plus two additional recognized features or a first-degree relative with LEOPARD syndrome and lentigenes plus three additional features in the patient (2). The most common features for LEOPARD syndrome are mulitiple lentigenes and structural heart defects such as left ventricular hypertrophy, right ventricular hypertrophy, coronary abnormalities and/or pulmonary stenosis. Facial dysmorphisms are also prevalent and the patients often suffer from short stature, retarded growth and sensorineural deafness. Genital abnormalities can also be present (3).In 2002 mutations in the gene encoding the protein tyrosine phosphatase SHP-2, PTPN11, were identified as the cause of LEOPARD syndrome in 90% of patients. In the majority of cases LEOPARD occurs sporadic and is caused by de novo mutations in PTPN11 (3). Interestingly it has previously been shown that mutations in the same gene caused Noonan Syndrome, which is a condition sharing several of the same clinical manifestations as seen in LEOPARD (4). Subsequent studies have shown that mutations in the RAF1 gene and BRAF gene are less frequent causes of LEOPARD syndrome (5).
Genetic investigations of the patient in the gene for PTPN11 identified a novel missense mutation (A461S), which was most likely to be disease associated.
The LEOPARD syndrome is quite rare and it is therefore difficult to assess the long-term prognosis of the condition although it is generally believed to be benign, especially with only mild cardiac abnormalities. However in a study of 26 LEOPARD patients, 2 patients died suddenly and 2 patients had a cardiac arrest (average follow-up 9.1 years).The majority of LEOPARD patients have left ventricular hypertrophy, which may be accompanied by left ventricular outflow tract obstruction, and the risk of sudden cardiac death may be higher in this group. Careful risk assessment is therefore indicated. It has been suggested to use the same algorithms as for familial hypertrophic cardiomyopathy, but careful consideration is needed as it is unknown if the pathophysiological background of these 2 diseases are comparable (3).
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