Time of Anderson-Fabry Disease Detection and Cardiovascular Presentation
Author
Source
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-03-20
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
Background.
Anderson-Fabry disease is an X-linked inherited disease, which manifests in a different manner depending on gender and genotype.
Making a working diagnosis of Anderson-Fabry disease is difficult because of several reasons: (a) that it is a multiorgan disease with wide variety of phenotypes, (b) different timelines of presentation, (c) gender differences, and (d) possible coexistence with other comorbidities.
Late-onset/cardiac type of presentation with minimal involvement of other organs can additionally make diagnosis difficult.
Aim.
To describe different cardiac manifestations at different time points in the course of the disease: (1) 72-year-old female (echocardiography detection), heterozygote, significant left and mild right ventricular hypertrophy; (2) 62-year-old male (echocardiography detection), hemizygote, left ventricular hypertrophy, implanted cardiac pacemaker, a performed percutaneous coronary intervention after myocardial infarction, degenerative medium degree aortic valve stenosis; (3) 45-year-old female (asymptomatic/family screening), heterozygote, thickened mitral papillary muscle, mild left ventricular hypertrophy, first degree diastolic dysfunction; and (4) 75-year-old female (symptomatic/family screening), heterozygote, cardiomyopathy with reduced left ventricular ejection fraction after heart surgery (mitral valve annuloplasty and plastic repair of the tricuspid valve).
Conclusion.
All patients have Anderson-Fabry disease but with different clinical presentations depending on the gender, the type of mutation, and the time of detection.
All these features can make the patients’ profiles unique and delay the time of detection.
American Psychological Association (APA)
Selthofer-Relatić, Kristina. 2018. Time of Anderson-Fabry Disease Detection and Cardiovascular Presentation. Case Reports in Cardiology،Vol. 2018, no. 2018, pp.1-5.
https://search.emarefa.net/detail/BIM-1141098
Modern Language Association (MLA)
Selthofer-Relatić, Kristina. Time of Anderson-Fabry Disease Detection and Cardiovascular Presentation. Case Reports in Cardiology No. 2018 (2018), pp.1-5.
https://search.emarefa.net/detail/BIM-1141098
American Medical Association (AMA)
Selthofer-Relatić, Kristina. Time of Anderson-Fabry Disease Detection and Cardiovascular Presentation. Case Reports in Cardiology. 2018. Vol. 2018, no. 2018, pp.1-5.
https://search.emarefa.net/detail/BIM-1141098
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1141098