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Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novel PTPN11 mutation Gln510His


, : Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novel PTPN11 mutation Gln510His. American Journal of Medical Genetics. Part A 155a(10): 2529-2533

LEOPARD syndrome (LS), generally caused by heterozygous mutations in the PTPN11 gene, is a rare autosomal-dominant multiple congenital anomaly condition, characterized by skin, facial, and cardiac abnormalities. Prognosis appears to be related to the type of structural, myocardial, and arrhythmogenic cardiac disease, especially hypertrophic cardiomyopathy (HCM). We report on a woman with LS and a novel Gln510His mutation in PTPN11, who had progressive HCM with congestive heart failure and nonsustained ventricular tachycardia, successfully treated with implantable cardioverter defibrillator (ICD). Comparing our patient to the literature suggests that specific mutations at codon 510 in PTPN11 (Gln510Glu, Gln510His, but not Gln510Pro) might be a predictor of fatal cardiac events in LS. Molecular risk stratification and careful evaluations for an indication of ICD implantation are likely to be beneficial in managing patients with LS and HCM.

US$19.90

PMID: 21910226

DOI: 10.1002/ajmg.a.34194


Other references

Kozyrev, D.P.; Dzhus, M.G.; Rybchin, V.N., 1983: Lysogenic conversion caused by phage phi 80 2. cor locus mapping. The cor locus determines lysogenic conversion of the lambdoid .vphi.80 phage. The cor locus was cloned from .vphi.80, .vphi.80pt1, .vphi.80pt0, .vphi.80pt4A and .lambda.by51 DNA in the pBR322 plasmid. According to the physical and genetic data, th...

Lipa, Jj, 1982: Nosema euzeti sp. n. and Gregarina euzeti sp. n., two new protozoan parasites of a mite Euzetes seminulum (O.F. Muller) (Acarina, Oribatei) Saprophagous mite living in leaf litter, Europe. Acta protozoologica1(1): 121-126

Takemori, K.; Gao, Y-Jing.; Ding, L.; Lu, C.; Su, L-Ying.; An, W-Sheng.; Vinson, C.; Lee, R.M.K.W., 2007: Elevated blood pressure in transgenic lipoatrophic mice and altered vascular function. The role of perivascular fat in the control of vascular function was studied using lipoatrophic A-ZIP/F1 transgenic mice. Only a small amount of brown fat was found around the aorta but not around mesenteric arteries. Blood pressure of A-ZIP/F1 m...

Lee I.K.; Yoo S.A., 1979: Gloeophycus koreanum new genus new species rhodophyta gloiosiphoniaceae from korea. GLOEOPHYCUS koreanum gen. et sp. nov., a red alga belonging to the Gloiosiphoniaceae, is described from the West Coast (Yellow Sea Coast) of Korea. The thallus is uniaxial, with tetrastichous pericentral cells giving rise to determinate and indete...

Baker, S.N.; Oliver, E.; Lemon, R.N., 1994: Cross correlations between pairs of identified cells in monkey motor cortex Implications for the origin of post spike facilitation in rectified EMG of hand muscles. Society for Neuroscience Abstracts 20(1-2): 982

Bignan, G.; Sauve, L.; Martin, C.; Baille L.C.om, V.; Fatome, M., 1995: Irradiation effect on c-fos protein expression in the rat striatum. c-Fos protein expression was studied in the rat striatum after gamma or mixed (neutron-gamma) irradiation. No effect of irradiation was observed, at the doses and times studied.

Morohoshi, K.; Ohbayashi, M.; Patel, N.; Chong, V.; Bird, A.C.; Ono, S.J., 2012: Identification of anti-retinal antibodies in patients with age-related macular degeneration. Age-related macular degeneration (AMD) is the leading cause of irreversible blindness in industrial counties. Recent findings indicate that the autoimmunity is involved in the pathogenesis of the disease. However, there is no autoantibody biomarke...

Lewinnek G., 1991: Low back surgery. Warfield, C A (Ed ) Manual Of Pain Management Xviii+381p J B Lippincott Co : Philadelphia, Pennsylvania, Usa; London, England, Uk Illus Paper 341-346

Self, K.P.; Summers, J.D., 1988: Dynamic-load and wheel-speed ratio effects on four-wheel drive tractive performance. An instrumented 4WD tractor was used to investigate the effects of wheel speed ratio, dynamic load distribution, forward velocity, wheel slip and soil cone index on tractive performance. Relationships were developed describing motion resistance, d...

Blinstein, S.Ya, 1976: New and little known species of rove beetles coleoptera staphylinidae from the northwestern black sea and sivash areas. Euphanias pusanovi Blinstein sp. nov. from the southern Transdnieper area [USSR] is described. An identification key of the Mediterranean species of the genus is given. An unknown female of Bledius dinoceros Zn. is described, and its distribution...