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The heart in Anderson Fabry disease
Christoph Kampmann1, Christiane M Wiethoff, A Perrot
1Universitätskinderklinik Johannes-Gutenberg-Universität Langenbeckstr. 1 55131 Mainz, Germany. christoph.kampmann@uni-mainz.de
Zeitschrift Fur Kardiologie
|October 24, 2002
Summary
Anderson Fabry disease is a serious genetic disorder caused by alpha-galactosidase A deficiency. This leads to globotriaosylceramide buildup, causing severe cardiac issues and reduced lifespan.
Area of Science:
- Genetics
- Metabolic Disorders
- Cardiology
Background:
- Anderson Fabry disease is an X-linked inherited metabolic disorder.
- It results from a deficiency in the lysosomal enzyme alpha-galactosidase A.
- This deficiency causes globotriaosylceramide accumulation in cells and organs.
Purpose of the Study:
- To discuss cardiac involvement in Anderson Fabry disease.
- To explore the influence of enzyme replacement therapy.
Main Methods:
- Review of existing literature on Anderson Fabry disease.
- Analysis of clinical manifestations and patient outcomes.
Main Results:
- Cardiac involvement is common, leading to cardiomyopathy, valvular issues, and arrhythmias.
- Hemizygous males lack enzyme activity; heterozygous females may have variable activity.
- Males typically die earlier than females due to complications.
Conclusions:
- Cardiac manifestations are a significant aspect of Anderson Fabry disease.
- Enzyme replacement therapy holds potential for managing the condition.