The role of cardiac MRI in the diagnosis of Fabry disease

Yoo Jin Hong, Young Jin Kim

Research output: Contribution to journalReview articlepeer-review


Fabry disease is a rare X-linked metabolic disorder that is characterized by the accumulation of glycosphingolipids in various organs, resulting from the deficiency of alpha-galactosidase A. Cardiac involvement is relatively common; myocardial inflammation, left ventricular hypertrophy, and myocardial fibrosis secondary to abnormal lipid deposition in myocytes are often observed. Hence, the diagnosis of cardiac involvement is crucial for evaluating patient prognosis. Cardiac MRI is the standard technique for measuring the function, volume, and mass of the ventricles. It is also useful for myocardial tissue characterizations. The evaluation of native myocardial T1 values can facilitate early diagnosis of cardiac involvement, while measurements of left ventricular myocardial mass can be used to monitor treatment outcomes, in patients with Fabry disease. Consequently, cardiac MRI can provide useful information for diagnosing, monitoring, and treating patients with Fabry disease.

Original languageEnglish
Pages (from-to)302-309
Number of pages8
JournalJournal of the Korean Society of Radiology
Issue number2
Publication statusPublished - 2020 Mar

Bibliographical note

Publisher Copyright:
Copyrights © 2020 The Korean Society of Radiology.

All Science Journal Classification (ASJC) codes

  • Radiology Nuclear Medicine and imaging


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