Related Experiment Video
Updated: Jun 28, 2026
Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases
Published on: July 28, 2013
NASCI case of the month: "pseudo normalization of T1 values in Anderson-Fabry disease"
Justin M Sarquiz1, Elizabeth M Lee2
1University of Michigan Medical School, 1301 Catherine St. 7300 Medical Science Building I - A Wing, Ann Arbor, MI, 48109, USA. jusarqui@med.umich.edu.
Insights
Anderson-Fabry disease (AFD) can cause cardiac issues like left ventricular hypertrophy in women. Diagnosis can be challenging due to varied symptoms, even with normal T1 values, requiring genetic confirmation.
Area of Science:
- Cardiology
- Genetics
- Lysosomal Storage Disorders
Background:
- Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder.
- Cardiac dysfunction, including left ventricular hypertrophy (LVH) and conduction abnormalities, is a known complication.
- Women may present with atypical, late-onset, or organ-specific manifestations, complicating diagnosis.
Purpose of the Study:
- To highlight the diagnostic challenges of cardiac Anderson-Fabry disease in women.
- To present a case of AFD with cardiac involvement in a 63-year-old woman.
- To emphasize the importance of considering AFD despite non-classic imaging findings.
Main Methods:
- Case report of a 63-year-old woman with chest pain and family history of AFD.
- Echocardiography to assess for left ventricular hypertrophy (LVH).
- Cardiac magnetic resonance (CMR) to evaluate LVH, late gadolinium enhancement, and T1 values.
- Genetic testing for confirmation of AFD.
Main Results:
- Echocardiography revealed left ventricular hypertrophy (LVH).
- Cardiac MRI confirmed LVH and showed extensive late gadolinium enhancement.
- T1 values were normal.
- Genetic testing confirmed the diagnosis of Anderson-Fabry disease.
Conclusions:
- Cardiac involvement in Anderson-Fabry disease should be considered in women, even with normal T1 values on CMR.
- Atypical presentations in women can delay diagnosis.
- Genetic testing remains crucial for confirming AFD, especially in cases with cardiac manifestations.
Abstract:
Anderson-Fabry disease (AFD) is a X-linked lysosomal storage disorder that can result in cardiac dysfunction including left ventricular hypertrophy (LVH) and conduction abnormalities (Frontiers in cardiovascular medicine vol. 10) [1]. The manifestations of AFD in women may be isolated to one organ and occur late in life due to the random inactivation of the X chromosome. This non-classic presentation may make reaching a diagnosis more difficult. In our case, a 63-year-old woman with family history of AFD presenting with chest pain underwent echocardiography which showed LVH. Cardiac magnetic resonance (CMR) was performed confirming LVH as well as identifying extensive late gadolinium enhancement. T1 values were normal. Despite normal T1 values and female sex, a diagnosis of cardiac involvement of AFD should still be considered and was confirmed with genetic testing.
