Search tips
Search criteria 


Logo of jmedgeneJournal of Medical GeneticsVisit this articleSubmit a manuscriptReceive email alertsContact usBMJ
J Med Genet. 1995 September; 32(9): 740–742.
PMCID: PMC1051678

Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation.


Three sisters suffering from an unusual form of Gaucher's disease are described. These patients had cardiovascular abnormalities consisting of calcification of the ascending aorta and of the aortic and mitral valves. Neurological findings included ophthalmoplegia and saccadic eye movements in two patients, and tonic-clonic seizures in the third. The three patients died, two of them after having undergone aortic valve replacement. Tissue was obtained from one of the sibs and fibroblast and liver beta-glucocerebrosidase activity was reduced to 4% and 11% of mean normal values. Genotype analysis indicated that the patient was homozygous for the D409H mutation. It is tempting to relate the phenotype of severe cardiac involvement to the D409H/D409H genotype, although further cases will be needed before this association can be confirmed.

Full text

Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (704K), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References.

Images in this article

Click on the image to see a larger version.

Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Beutler E. Gaucher disease: new molecular approaches to diagnosis and treatment. Science. 1992 May 8;256(5058):794–799. [PubMed]
  • Sibille A, Eng CM, Kim SJ, Pastores G, Grabowski GA. Phenotype/genotype correlations in Gaucher disease type I: clinical and therapeutic implications. Am J Hum Genet. 1993 Jun;52(6):1094–1101. [PubMed]
  • Horowitz M, Zimran A. Mutations causing Gaucher disease. Hum Mutat. 1994;3(1):1–11. [PubMed]
  • Cormand B, Vilageliu L, Burguera JM, Balcells S, Gonzàlez-Duarte R, Grinberg D, Chabás A. Gaucher disease in Spanish patients: analysis of eight mutations. Hum Mutat. 1995;5(4):303–309. [PubMed]
  • Chabás A, Guardiola A, Burguera JM. An activator protein of oligosaccharide sialidase. Biochem Int. 1987 Aug;15(2):449–457. [PubMed]
  • Glew RH, Daniels LB, Clark LS, Hoyer SW. Enzymic differentiation of neurologic and nonneurologic forms of Gaucher's disease. J Neuropathol Exp Neurol. 1982 Nov;41(6):630–641. [PubMed]
  • ZLOTNICK A, GROEN JJ. Observations on a patient with Gaucher's disease. Am J Med. 1961 Apr;30:637–642. [PubMed]
  • Harvey PK, Jones MC, Anderson EG. Pericardial abnormalities in Gaucher's disease. Br Heart J. 1969 Sep;31(5):603–606. [PMC free article] [PubMed]
  • Tamari I, Motro M, Neufeld HN. Unusual pericardial calcification in Gaucher's disease. Arch Intern Med. 1983 Oct;143(10):2010–2011. [PubMed]
  • Smith RL, Hutchins GM, Sack GH, Jr, Ridolfi RL. Unusual cardiac, renal and pulmonary involvement in Gaucher's disease. Intersitial glucocerebroside accumulation, pulmonary hypertension and fatal bone marrow embolization. Am J Med. 1978 Aug;65(2):352–360. [PubMed]
  • Patterson MC, Horowitz M, Abel RB, Currie JN, Yu KT, Kaneski C, Higgins JJ, O'Neill RR, Fedio P, Pikus A, et al. Isolated horizontal supranuclear gaze palsy as a marker of severe systemic involvement in Gaucher's disease. Neurology. 1993 Oct;43(10):1993–1997. [PubMed]
  • Casta A, Hayden K, Wolf WJ. Calcification of the ascending aorta and aortic and mitral valves in Gaucher's disease. Am J Cardiol. 1984 Dec 1;54(10):1390–1391. [PubMed]
  • Saraçlar M, Atalay S, Koçak N, Ozkutlu S. Gaucher's disease with mitral and aortic involvement: echocardiographic findings. Pediatr Cardiol. 1992 Jan;13(1):56–58. [PubMed]
  • Gross-Tsur V, Har-Even Y, Gutman I, Amir N. Oculomotor apraxia: the presenting sign of Gaucher disease. Pediatr Neurol. 1989 Mar-Apr;5(2):128–129. [PubMed]
  • Wilson ER, Barton NW, Barranger JA. Vascular involvement in type 3 neuronopathic Gaucher's disease. Arch Pathol Lab Med. 1985 Jan;109(1):82–84. [PubMed]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group