0000000000338911

AUTHOR

Christiane M. Wiethoff

showing 3 related works from this author

Cardiac manifestations of Anderson-Fabry disease in heterozygous females.

2002

AbstractObjectivesWe sought to define the prevalence of cardiac involvement in female patients with Anderson–Fabry disease (AFD).BackgroundAnderson–Fabry disease is a rare inborn X-linked lysosomal storage disorder. Globotriaosylceramide (Gb3), the major substrate of the deficient α-galactosidase A enzyme, accumulates progressively in vulnerable cells, including the cardiovascular system. It has been believed that heterozygous females have less cardiac involvement than hemizygous males with AFD.MethodsWe performed two-dimensional echocardiographic examinations of female patients heterozygous for AFD.ResultsSince 1997, a total of 55 female patients (mean age, 39.6 years; range, 6.1 to 70.8 y…

Adultmedicine.medical_specialtyPediatricsHeterozygoteendocrine system diseasesHeart diseaseAdolescentSystoleHeart Valve DiseasesDiseaseVentricular Dysfunction LeftFemale patientotorhinolaryngologic diseasesmedicinePrevalenceHumanscardiovascular diseasesProspective StudiesSystoleProspective cohort studyChildneoplasmsAgedVascular diseasebusiness.industryAge FactorsMiddle Agedmedicine.diseaseFabry diseasehumanitiesSurgeryPedigreeAnderson-Fabry DiseaseEchocardiographyFabry Diseaselipids (amino acids peptides and proteins)FemaleHypertrophy Left VentricularCardiology and Cardiovascular MedicinebusinessJournal of the American College of Cardiology
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Enzyme replacement therapy in heterozygous females with Fabry disease: results of a phase IIIB study.

2003

Summary: Fabry disease is an X-linked glycosphingolipid storage disorder caused by a deficiency of α-galactosidase A. Affected patients experience debilitating neuropathic pain and have premature mortality due to renal failure, cardiovascular disease or cerebrovascular complications. The disease may be X-linked dominant, since most females heterozygous for Fabry disease are affected clinically. We evaluated the safety, efficacy and pharmacokinetics of agalsidase alfa (Replagal) administered intravenously to female patients with Fabry disease in an open-label, single-centre study. Fifteen severely affected patients received agalsidase alfa at 0.2 mg/kg every other week for up to 55 weeks. Ag…

Adultmedicine.medical_specialtyHeterozygoteAdolescentArthritisRenal functionKidneyGastroenterologyAntibodiesArthritis RheumatoidElectrocardiographyPharmacokineticsInternal medicineGeneticsmedicineHumansGenetics (clinical)Vascular diseasebusiness.industryTrihexosylceramidesEnzyme replacement therapymedicine.diseaseFabry diseaseRecombinant ProteinsSurgeryClinical trialIsoenzymesEchocardiographyalpha-GalactosidaseNeuropathic painMutationFabry DiseaseFemalebusinessJournal of inherited metabolic disease
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Normal values of M mode echocardiographic measurements of more than 2000 healthy infants and children in central Europe

2000

OBJECTIVE—To obtain normal M mode (one dimensional) echocardiographic values in a substantial sample of normal infants and children.
DESIGN—Data were obtained over three years from a single centre in central Europe.
PATIENTS—2036 healthy infants and children aged one day to 18 years.
METHODS—In line with recommendations for standardising measurements from M mode echocardiograms, and using digital echocardiographic equipment, measurements were obtained of the following: right ventricular anterior wall thickness at end diastole, right ventricular end diastolic dimension, thickness of interventricular septum at end diastole and end systole, thickness of posterior wall of the left ventricle at …

AdultAortic valvemedicine.medical_specialtyAdolescentBody Surface AreaAnterior wallDiastoleNormal valuesCardiovascular MedicineReference ValuesLeft atrialInternal medicineHumansMedicineInterventricular septumChildBody surface areabusiness.industryInfant NewbornInfantmedicine.anatomical_structureEchocardiographyVentricleChild PreschoolCardiologyRegression AnalysisCardiology and Cardiovascular MedicinebusinessHeart
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