Fabryho nemoc s izolovaným postizením srdecní svaloviny, probíhající pod obrazem hypertrofické kardiomyopatie.

Translated title of the contribution: Fabry's disease with isolated disease of the cardiac muscle, manifesting as hypertrophic cardiomyopathy

M. Elleder, V. Dorazilová, V. Bradová, M. Bělohlávek, V. Král, M. Choura, M. Buděsínský, K. Harzer

Research output: Contribution to journalArticlepeer-review

8 Scopus citations

Abstract

A case is presented of Fabry's disease manifesting in an adult (aged 64) as hypertrophic nonobstructive cardiomyopathy caused by massive ceramidtrihexoside storage confined exclusively to the cardiocytes. There was no storage detectable in capillaries or in any other structure of the organs examined (liver, pancreas, brain, aorta, pulmonary artery, coronary arteries, heart valves). The clinical picture was dominated by heart failure slowly progressing during the last fifteen years of the patient's life terminated by pulmonary thromboembolism. There were no clinical signs of ocular, renal or skin affection. Since no unfixed tissues were available for enzyme analysis diagnosis had to be done using formaldehyde fixed tissues. The isolated stored lipid was characterized by TLC and by proton magnetic resonance analysis as globotriaosyl ceramide (Gal alpha 1-4 Gal beta 1-4 Glc beta 1-1' Cer) and was proved to be cleaved by control cell homogenates but left intact by those prepared from Fabry mutant cells (leukocytes, cultured fibroblasts). alpha galactosidase activity in each of his four daughters was in heterozygous range (peripheral leukocytes were used for analysis). The existing variants of cardiological syndromes in Fabry's disease are reviewed together with problems of diagnosis of atypical cases.

Translated title of the contributionFabry's disease with isolated disease of the cardiac muscle, manifesting as hypertrophic cardiomyopathy
Original languageCzech
Pages (from-to)369-372
Number of pages4
JournalCasopis lekaru ceskych
Volume129
Issue number12
StatePublished - Mar 23 1990

ASJC Scopus subject areas

  • Medicine(all)

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