Table 1

Patients with type 3 Gaucher disease and cardiovascular abnormalities

ReportCountry of originNo of casesAgeConsanguinityGenotypeSymptoms
Chabas et al 5 Spain3 sibs10NoD409H/MildAbnormal saccades, one had tonic/clonic seizuresCalcifications of aortic and mitral valves and ascending aortaCorneal opacitiesNA
Abrahamov et al 4 Israel12 pts in 3 families2–20YesD409H/MildAbsent saccades, mild dilatation of lateral ventriclesCalcification of valvesCorneal opacitiesNA
Sharrattet al 9 Canada112YesNAModerateNACalcifications of mitral and aortic valves and left atriumNANA
Saraclar et al 8 Turkey2 sibs15YesNAMildNAMitral and aortic valve involvementNANA
Uyamaet al 2 3 Japan3 sibs42NoD409H/MildAbnormal saccadic eye movements, leptomeningeal fibrosisMitral and aortic valve calcification, intimal fibrosis of ascending aortaCorneal opacitiesAzoospermia, progressive hearing loss, deformed toes, hyperextensible skin, hernias
Erduranet al 7 Turkey112YesNAMildCommunicating hydrocephalus, choreoathetoid movements of headLeft ventricular hypertrophyCorneal opacitiesClinodactyly, sensorineural hearing loss
Beutler et al 10 Britain/118YesD409H/ModerateHydrocephalus, oculomotor apraxia“Cardiac disease”NANA
This report and Wilsonet al 1 USA16NoD409H/SevereAbsent saccades, mild communicating hydrocephalusVentricular hypertrophy, aortic and coronary artery intimal fibrosisNANA
recombinant allele
Castaet al 11 USA115NANAMildNACalcification of ascending aorta, aortic and mitral valvesCorneal depositsNA
  • NA - not available.