Author + information
- Received September 22, 2017
- Revision received October 25, 2017
- Accepted October 31, 2017
- Published online January 17, 2018.
- Renuka Jain, MDa,∗ (, )
- Lindsey Kalvin, RDCS, BSa,
- Brandon Johnson, MDb,
- Lakshmi Muthukumar, MDa,
- Bijoy K. Khandheria, MDa,c and
- A. Jamil Tajik, MDa
- aAurora Cardiovascular Services, Aurora Sinai/Aurora St. Luke’s Medical Centers, Milwaukee, Wisconsin
- bRadiology Department, Aurora Sinai/Aurora St. Luke’s Medical Centers, Milwaukee, Wisconsin
- cMarcus Family Fund for Echocardiography Research and Education, Milwaukee, Wisconsin
- ↵∗Address for correspondence:
Dr. Renuka Jain, Aurora Cardiovascular Services, Aurora St. Luke’s Medical Center, 2801 West Kinnickinnic River Parkway, Suite 840, Milwaukee, Wisconsin 53215.
Anderson-Fabry disease, an X-linked inherited deficiency of alpha-galactosidase A (GLA gene) with a birth frequency of 1 in 100,000, results in systemic sphingolipid accumulation with characteristic clinical findings. The predominant causes of significant morbidity and mortality are renal, cerebrovascular, and cardiac.
Cardiac involvement in the disease phenotypically mimics hypertrophic cardiomyopathy, commonly presenting in the echocardiography laboratory as a male patient with concentric left ventricular hypertrophy. However, as we describe, the spectrum of Fabry cardiomyopathy encompasses all hypertrophic cardiomyopathy phenotypes. Also, due to selective X-inactivation, both sexes can be severely affected—women are not merely genetic “carriers.”
Certain imaging features are more likely to be seen in Fabry disease than other hypertrophic cardiomyopathy phenotypes. In this case series (Figures 1 to 4⇓⇓⇓⇓, Table 1), we highlight the characteristic findings on multimodality imaging that heighten the probability of a diagnosis of Fabry cardiomyopathy—the echocardiographic, electrocardiographic, and cardiac magnetic resonance findings that are unique to the disease.
The authors have reported that they have no relationships relevant to the contents of this paper to disclose.
- Received September 22, 2017.
- Revision received October 25, 2017.
- Accepted October 31, 2017.
- 2018 American College of Cardiology Foundation