From: Do clinical guidelines facilitate or impede drivers of treatment in Fabry disease?
 | Early indicators of histological damage (heart biopsy) | Markers of early systolic/diastolic dysfunction | Elevated serum cardiac troponin | Early indicators of LVH | Late Gd+ on cMRI | Elevated serum NT-proBNP | Reduced myocardial T1 relaxation time on cMRI | Abnormal ECG | Abnormal echocardiogram | Abnormal wall motion on echocardiogram | Symptomatic cardiac disease |
---|---|---|---|---|---|---|---|---|---|---|---|
PREDICT-FDa [11] |  + (NR) |  +  |  +  |  +  |  +  |  +  |  +  |  +  |  +  |  +  | – |
EFWGb [1] | – | – | – | Wall thickness > 12 mm with minimal/no fibrosis All, I | – | – | – | Rhythm disturbances All, I | – | – | – |
Australia [24] | All | Allc | – | Alld | Alld | – | Allc | Allc | Alld | – | – |
Canadae [21] | Confirmatory diagnosis | Grade 2 or 3 diastolic dysfunctionf |  > 2 × ULN | Wall thickness: M, > 12 mm F, > 11 mm LVH Romhilt–Estes score > 5g | Left ventricular wall |  > ULN | 1.5 T magnet M, < 901 ms F, 916 ms | Conduction/rhythm abnormalh | Diastolic filling abnormal Left atrium > 34 mL/m2 Moderate-to-severe mitral or aortic insufficiency Abnormal longitudinal strain gradient left ventricle |  | – |
Catalonia (Spain) | – | Alli | – | Alli,j | Allk | – | Allj | Allj | Alli | Alli | – |
Fm | – | – | – | – | Fm | – | Fm | Fm | – | – | |
Portugal [22] | – |  | – | LVH in adults Cardiomyopathy in children | Myocardial fibrosis | – | – | All, arrhythmia Adults, conduction disturbance | – | – | Dyspnea, palpitations, syncope, thoracic pain |
Slovenia (FCGHSG) | Confirmatory biopsy if needed in cF and in late-onset adultsn | Diastolic dysfunction | – | Hypertrophic cardiomyopathy | Signs of fibrosis | – | – |  | Signs of fibrosis by speckle tracing |  |  |
Switzerlando | Fp | Fq | – | Fq | – | – | Fq | Fq | – | – | – |
UKr [26] | – | – | – | Wall thickness: M, > 13 mm F, > 12 mm | All | – | – | – | Alls | – | – |