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首页> 外文期刊>The American Journal of Cardiology >Familial LEOPARD Syndrome With Hypertrophic Cardiomyopathy
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Familial LEOPARD Syndrome With Hypertrophic Cardiomyopathy

机译：具有肥厚性心肌病的家族豹综合征

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摘要

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. (C) 2020 Elsevier Inc. All rights reserved.
机译：多发性雀斑综合征是一种常染色体显性遗传病，表现力可变，也称为LEOPARD综合征。LEOPARD代表皮疹、心电图传导缺陷、眼球高度近视、肺动脉瓣狭窄、生殖器异常、生长迟缓和耳聋。LEOPARD综合征最常继发于编码酪氨酸磷酸酶的蛋白酪氨酸磷酸酶非受体11型基因的错义突变。错义突变p.Tyr279Cys既可以作为新发突变发生，也可以影响多个家族成员。虽然肥厚型心肌病不属于LEOPARD的首字母缩略词，但它是该综合征中观察到的最常见的心脏异常。LEOPARD综合征患者左室或右室壁厚度增加的认识可能会对其临床进程产生重大影响，类似于经典肥厚型心肌病，这可能需要间隔复位程序来缓解左室或右室流出道阻塞，或植入心脏复律除颤器以预防心脏性猝死。我们描述了一个弥漫性豆状核变性和肥厚型心肌病家族的病例系列，其中儿子携带蛋白酪氨酸磷酸酶非受体11型（p.Tyr279Cys）基因突变，儿子和女儿都在早期接受了左心室肌切除术。总之，我们的LEOPARD综合征家族病例系列说明了认识肥厚型心肌病作为该综合征一部分的重要性。（C） 2020爱思唯尔公司版权所有。

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    Galazka Patrycja; Jain Renuka; Muthukumar Lakshmi; Sanders Heather; Bush Michelle; Jan M. Fuad; Jahangir Arshad; Khandheria Bijoy K.; Tajik A. Jamil;

  • 作者单位

    Univ Wisconsin Sch Med &

    Publ Hlth Aurora Cardiovasc &

    Thorac Serv Aurora Sinai Aurora St Lukes;

    Univ Wisconsin Sch Med &

    Publ Hlth Aurora Cardiovasc &

    Thorac Serv Aurora Sinai Aurora St Lukes;

    Univ Wisconsin Sch Med &

    Publ Hlth Aurora Cardiovasc &

    Thorac Serv Aurora Sinai Aurora St Lukes;

    Univ Wisconsin Sch Med &

    Publ Hlth Aurora Cardiovasc &

    Thorac Serv Aurora Sinai Aurora St Lukes;

    Univ Wisconsin Sch Med &

    Publ Hlth Aurora Cardiovasc &

    Thorac Serv Aurora Sinai Aurora St Lukes;

    Univ Wisconsin Sch Med &

    Publ Hlth Aurora Cardiovasc &

    Thorac Serv Aurora Sinai Aurora St Lukes;

    Univ Wisconsin Sch Med &

    Publ Hlth Aurora Cardiovasc &

    Thorac Serv Aurora Sinai Aurora St Lukes;

    Univ Wisconsin Sch Med &

    Publ Hlth Aurora Cardiovasc &

    Thorac Serv Aurora Sinai Aurora St Lukes;

    Univ Wisconsin Sch Med &

    Publ Hlth Aurora Cardiovasc &

    Thorac Serv Aurora Sinai Aurora St Lukes;

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  • 正文语种 eng
  • 中图分类 心脏、血管（循环系）疾病;
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