p.74 抽出テキスト

Progressive limb ataxia Diabetes mellitus Pes cavus Reduced native T1 at CMR imaging NGS testing for bi-allelic expansion

of GAA repeats in the FXN gene Friedreich ataxia Cardiologist

Neurologist Endocrinologist Orthopaedic surgeon Neuromuscular disease expert No specific treatment

Bilateral carpal tunnel syndrome Lumbar spinal stenosis Autonomic dysfunction Peripheral neuropathy Relative apical sparing pattern Ejection fraction/strain ratio >5 Pseudonecrosis Q waves Low ECG voltages OR Positive serum or urine monoclonal chain at immunofixation DPD/HMDP Tc99 scintigraphy

Free light chain/serum and urine immunofixation Endomyocardial biopsy Cardiac amyloidosis (AL

or ATTR) (see Section 7.7) Cardiologist

Neurologist Nephrologist Haematologist (AL amyloidosis) Ophthalmologist Tafamidis

Patisirana Inotersena (ATTR-CA) OR Specific chemotherapy (AL amyloidosis)

Gastrointestinal symptoms Angiokeratoma Cornea verticillata Chronic kidney disease Proteinuria Sensorineural hypoacusia Stroke/TIA Neuropathic pain X-linked inheritance pattern Short PR interval Low native T1 at cardiac CMR Screening in males: lyso-Gb3 dosing

Screening in females/diagnostic confirmation: genetic testing for GLA variants Anderson–Fabry disease Cardiologist Nephrologist

Neurologist Ophthalmologist Audiologist Gastroenterologist Dermatologist Enzyme replacement therapy (agalsidase alfa/beta)

Migalastat

Skeletal myopathy Posterolateral pseudonecrosis pattern Posterolateral or inferolateral akinesia Genetic testing for dystrophinopathies DMD Neurologist Cardiologist

Pneumologist Neuromuscular disease expert Steroids (prednisone or deflazacort)

Skeletal myopathy AV block Premature atrial fibrillation Malignant ventricular arrhythmias NGS testing LMNA cardiomyopathy Emery–Dreifuss muscular

dystrophy Cardiologist Neurologist SCD risk prevention Pacing if indicated

Bilateral hilar lymphadenopathy Pulmonary infiltrates Uveitis Gastrointestinal involvement High-degree AV block Frequent VEs Thinned basal interventricular septum Extended LGE at CMR imaging 18F-FDG-PET

Endomyocardial biopsy Lung biopsy Sarcoidosis Cardiologist

Pneumologist Neurologist Gastroenterologist Steroids

Steroid-sparing immunosuppressant drugs

Downloaded from academic.oup.com/eurheartj/article/44/37/3503/7246608 by guest on 07 October 2026