Clinical staging of Anderson-Fabry cardiomyopathy: An operative proposal
Annamaria Del Franco1, Giulia Iannaccone2, Maria Chiara Meucci2
1Cardiomyopathy Unit, Careggi University Hospital, Florence, Italy.
Insights
Anderson-Fabry disease (FD) is a slowly progressive hypertrophic cardiomyopathy (HCM). This study proposes a practical 4-stage classification system for FD cardiomyopathy to standardize cardiac evaluation and improve physician communication.
Area of Science:
- Cardiology
- Genetics
- Rare Diseases
Background:
- Anderson-Fabry disease (FD) presents as a slowly progressive hypertrophic cardiomyopathy (HCM), mimicking common sarcomeric forms.
- Clinical presentation and long-term progression of FD cardiomyopathy show significant differences, complicating diagnosis.
- Current assessment of FD cardiomyopathy severity lacks standardization, leading to physician discrepancies.
Purpose of the Study:
- To propose a practical staging system for FD cardiomyopathy.
- To establish a standard for cardiac evaluation in FD.
- To facilitate improved communication among specialized FD centers and primary care physicians.
Main Methods:
- Review of clinical and imaging studies on FD cardiomyopathy.
- Identification of distinct stages based on disease progression.
- Development of a 4-stage classification: non-hypertrophic, hypertrophic-pre-fibrotic, hypertrophic-fibrotic, and overt dysfunction.
Main Results:
- A 4-stage classification of FD cardiomyopathy severity was identified.
- Stages range from non-hypertrophic to overt dysfunction, incorporating fibrotic changes.
- Detailed descriptions for each stage are provided.
Conclusions:
- A practical 4-stage staging system for FD cardiomyopathy is proposed.
- This staging aims to standardize cardiac evaluation and enhance physician communication.
- Standardized language is critical for managing complex FD patients across multidisciplinary settings.
Abstract:
As a slowly progressive form of hypertrophic cardiomyopathy (HCM), Anderson-Fabry disease (FD) resembles the phenotype of the most common sarcomeric forms, although significant differences in presentation and long-term progression may help determine the correct diagnosis. A variety of electrocardiographic and imaging features of FD cardiomyopathy have been described at different times in the course of the disease, and considerable discrepancies remain regarding the assessment of disease severity by individual physicians. Therefore, we here propose a practical staging of FD cardiomyopathy, in hopes it may represent the standard for cardiac evaluation and facilitate communication between specialized FD centres and primary care physicians. We identified 4 main stages of FD cardiomyopathy of increasing severity, based on available evidence from clinical and imaging studies: non-hypertrophic, hypertrophic - pre-fibrotic, hypertrophic - fibrotic, and overt dysfunction. Each stage is described and discussed in detail, following the principle that speaking a common language is critical when managing such complex patients in a multi-disciplinary and sometimes multi-centre setting.
