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Case Report

Aortic calcification in Gaucher disease: a case report

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Pages 107-110 | Published online: 17 Oct 2018

References

  • FerreiraCRGahlWALysosomal storage diseasesTransl Sci Rare Dis201721–217129152458
  • BradyROBartonNWGrabowskiGAThe role of neurogenetics in Gaucher diseaseArch Neurol19935011121212248215980
  • PattersonMCHorowitzMAbelRBIsolated horizontal supranuclear gaze palsy as a marker of severe systemic involvement in Gaucher’s diseaseNeurology19934310199319978413956
  • MirelesSASeyboldJWilliamsGUndiagnosed type IIIc Gaucher disease in a child with aortic and mitral valve calcification: perioperative complications after cardiac surgeryJ Cardiothorac Vasc Anesth201024347147419632857
  • KoprivicaVStoneDLParkJKAnalysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher diseaseAm J Hum Genet20006661777178610796875
  • LachmannRHGrantIRHalsallDCoxTMTwin pairs showing discordance of phenotype in adult Gaucher’s diseaseQJM200497419920415028849
  • ElsteinDGellmanAAltarescuGDisease severity in sibling pairs with type 1 Gaucher diseaseJ Inherit Metab Dis2010331798320049528
  • CastaAHaydenKWolfWJCalcification of the ascending aorta and aortic and mitral valves in Gaucher’s diseaseAm J Cardiol19845410139013916507325
  • UyamaETakahashiKOwadaMHydrocephalus, corneal opacities, deafness, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings: a new syndrome associated with beta-glucocerebrosidase deficiency and a mosaic population of storage cellsActa Neurol Scand19928644074201333717
  • UyamaEUchinoMIdaHEtoYOwadaMD409H/D409H genotype in Gaucher-like diseaseJ Med Genet19973421759040001
  • AbrahamovAElsteinDGross-TsurVGaucher’s disease variant characterised by progressive calcification of heart valves and unique genotypeLancet19953468981100010037475546
  • ChabásACormandBGrinbergDUnusual expression of Gaucher’s disease: cardiovascular calcifications in three sibs homozygous for the D409H mutationJ Med Genet19953297407428544197
  • BohlegaSKambourisMShahidMAl HomsiMAl SousWGaucher disease with oculomotor apraxia and cardiovascular calcification (Gaucher type IIIC)Neurology200054126126310636167
  • GeorgeRMcmahonJLytleBClarkBLichtinASevere valvular and aortic arch calcification in a patient with Gaucher’s disease homozygous for the D409H mutationClin Genet200159536036311359469
  • CindikNOzcayFSürenDGaucher disease with communicating hydrocephalus and cardiac involvementClin Cardiol2010331E26E3019816973
  • TallutoCJSilvermanNHAortic and mitral valve stenosis with regurgitation: not due to rheumatic heart diseaseEchocardiography2011282E24E2720718842
  • AltunbasGErcanSInançIHOzerOKervancıoğluSDavutoğluVExtensive vascular and valvular involvement in Gaucher diseaseAsian Cardiovasc Thorac Ann201523444644824887908
  • AbdelwahabMBlankenshipDSchiffmannRLong-term follow-up and sudden unexpected death in Gaucher disease type 3 in EgyptNeurol Genet201622e5527123474
  • SalehYAlmaghrabyAHammadBMokhtarAAbdel-HayMAGaucher disease causing sudden cardiac deathEgypt Heart J2016683201204
  • KörYKeskinMBaşpınarOSevere cardiac involvement in Gaucher type IIIC: a case report and review of the literatureCardiol Young20172771426142928393750
  • VeinotJPElsteinDHananiaDAbrahamovASrivatsaSZimranAGaucher’s disease with valve calcification: possible role of Gaucher cells, bone matrix proteins and integrinsCan J Cardiol199915221121610079781