Table 6.
Summary of the main recommendations for the diagnosis and monitoring of cardiac manifestations in FD [145].
| Recommendations for the Diagnosis and Monitoring of Cardiac Manifestations in FD |
| ECG |
| A standard 12-lead ECG is recommended in all adult patients at first clinical evaluation, every 6–12 months and when there is development of new symptoms. |
| Echocardiogram |
| Echocardiogram is recommended in all patients at baseline, every 12–24 months and with the development of new symptoms. |
| Exercise echocardiography |
| Exercise echocardiography should be performed in all symptomatic patients to exclude latent obstruction and exercise-induced mitral regurgitation. |
| Cardiac MRI |
| Cardiac MRI should be considered in all adult patients at baseline to assess cardiac morphology and function and myocardial fibrosis; and may be considered, every 2–5 years in patients without cardiac abnormalities and every 2–3 years in patients with progressive disease, in order to assess progression of fibrosis and cardiac function. T1 mapping may also be considered to detect early cardiac involvement or to help in the differential diagnosis of LVH. |
| Holter monitoring |
| A 24 h-Holter monitoring should be considered in all adult patients at first clinical evaluation, every 6–12 months and when there is development of new symptoms. |
| ILR |
| A prolonged Holter monitoring or preferably an ILR should be considered in patients with recurrent episodes of unexplained syncope. An ILR may also be considered in patients with palpitations or recent stroke and negative Holter monitoring. |
| Cardiopulmonary exercise testing |
| Cardiopulmonary exercise testing should be considered in patients with exercise intolerance. |
| Coronary angiography |
| Coronary angiography (or CT coronary angiography) is recommended in all patients with angina CCS class ≥ II. Invasive coronary angiography is recommended in adult survivors of cardiac arrest, in patients with sustained VT and in patients with severe stable angina (CCS class III) or unstable angina. |
| BNP/NT-proBNP |
| Measurement of plasma BNP/NT-proBNP is recommended in symptomatic patients with suspected heart failure. |
| High-sensitivity troponin |
| High-sensitivity troponin may be considered to assess disease severity. |
| Renal function |
| Regular assessment of renal function and albuminuria/proteinuria is recommended in all patients. |
| Endomyocardial biopsy |
| When a genetic variant of uncertain significance is found in the GLA gene, an endomyocardial biopsy with electron microscopy should be considered, particularly in females or in patients with high residual enzyme activity (>10%) and low lyso-GB3 levels, in order to exclude FD as the cause of LVH. |
BNP, brain natriuretic peptide; CCS, Canadian Cardiovascular Society; CT, computed tomography; ECG, electrocardiogram; FD, Fabry disease; ILR, implantable loop recorder; LVH, left ventricular hypertrophy; MRI, magnetic resonance imaging; NT-proBNP, N-terminal prohormone of brain natriuretic peptide; VT, ventricular tachycardia.