Martínez-Quintana E, Rodríguez-González F
Cardiology Service, Complejo Hospitalario Universitario Insular-Materno Infantil, Spain.
Mol Syndromol. 2012 Apr;2(6):251-253. doi: 10.1159/000335995. Epub 2012 Jan 31.
LEOPARD syndrome (LS) is an acronym consisting of lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonary valve stenosis, abnormal genitalia, retardation of growth and deafness. However, hypertrophic cardiomyopathy, the most frequent cause of sudden cardiac death in young people, is the most common cardiovascular manifestation in LS patients and the major determinant of mortality and morbidity. In approximately 85% of the patients with a definite diagnosis of LS, a missense mutation is found in the protein-tyrosine phosphatase non-receptor type 11 (PTPN11) gene located on chromosome 12q24.1. We report the case of an asymptomatic 17-year-old male with a missense mutation (c.836A>G) in exon 7 (Tyr279Cys) of the PTPN11 gene and a non-obstructive asymmetric anteroseptal hypertrophic cardiomyopathy.
豹皮综合征（LS）是一个首字母缩略词，包括雀斑、心电图异常、眼距增宽、肺动脉瓣狭窄、生殖器异常、生长发育迟缓及耳聋。然而，肥厚型心肌病是年轻人心脏性猝死最常见的原因，是LS患者最常见的心血管表现，也是死亡率和发病率的主要决定因素。在约85%确诊为LS的患者中，位于12号染色体q24.1区域的蛋白酪氨酸磷酸酶非受体型11（PTPN11）基因存在错义突变。我们报告了1例17岁无症状男性病例，其PTPN11基因第7外显子（Tyr279Cys）存在错义突变（c.836A>G），并患有非梗阻性不对称性前间隔肥厚型心肌病。
