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Multimodality imaging in Fabry cardiomyopathy: from early diagnosis to therapeutic targets
Sebastian Militaru1,2, Carmen Ginghina1,3, Bogdan A Popescu1,3
1Emergency Institute for Cardiovascular Diseases "Prof. Dr. C. C. Iliescu", Bucharest, Romania.
Insights
Cardiac imaging is crucial for diagnosing Fabry disease (FD) and monitoring treatment. Specific imaging
Area of Science:
- Cardiology
- Medical Imaging
- Genetics
Background:
- Fabry disease (FD) is a rare X-linked genetic disorder affecting multiple organs.
- Cardiac involvement in FD significantly impacts prognosis and mortality.
- Early diagnosis and monitoring of cardiac changes are vital for patient management.
Purpose of the Study:
- To review imaging 'red flags' for early Fabry disease cardiac detection.
- To differentiate Fabry cardiomyopathy from other hypertrophic cardiomyopathies using imaging.
- To discuss the role of cardiac magnetic resonance (CMR) and other imaging modalities in FD evaluation and therapy monitoring.
Main Methods:
- Review of current literature on cardiac imaging in Fabry disease.
- Focus on echocardiography (2D and deformation), CMR, scintigraphy, and positron emission tomography.
- Identification of imaging biomarkers for early diagnosis and treatment response.
Main Results:
- Specific imaging findings can differentiate early cardiac FD from healthy individuals.
- Imaging characteristics help distinguish Fabry cardiomyopathy from other hypertrophic cardiomyopathies.
- CMR is valuable for myocardial tissue characterization in FD.
- Imaging parameters reliably aid in diagnosis and therapy monitoring.
Conclusions:
- Imaging plays a critical role in the diagnosis, progression assessment, and treatment guidance for Fabry disease cardiomyopathy.
- Awareness of imaging 'red flags' is essential for early detection and referral to expert centers.
- Further research into advanced imaging techniques can enhance FD management.
Abstract:
Fabry disease (FD) is a rare genetic X-linked disorder that can impact multiple organs. Cardiac involvement influences the prognosis of patients with FD, being one of the main causes of mortality. Cardiac imaging has proven essential in all aspects of Fabry cardiomyopathy evaluation, such as diagnosis (including detection of early organ changes), disease progression, and guideline for starting enzyme therapy. Imaging techniques used in cardiac evaluation of FD range from 2D and deformation studies in echocardiography to cardiac magnetic resonance (CMR), cardiac scintigraphy and positron emission tomography. The present review summarizes the imaging 'red flags' demonstrated to be able to differentiate early cardiac FD from normal controls and Fabry cardiomyopathy from other causes of hypertrophic cardiomyopathy. Also, it discusses the current evidence for the role of CMR in myocardial tissue characterization, as well as other imaging methods that have shown promise in FD. Current knowledge of the evaluation of the presence and extent of cardiac involvement at baseline and during follow-up of enzyme therapy efficiency are further presented. Multiple studies demonstrated that imaging parameters can be reliably used in establishing diagnosis and monitoring therapy in FD. Given the rarity of this disorder, we conclude that awareness should be raised about these imaging 'red flags' and likely patients sent for evaluation in expert centres.
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