Clinical Updates

Please click on the links below to access recent clinical papers, podcasts and newsletters, to assist in identifying and diagnosing Fabry disease patients.

Newsletters

PROF. PERRY ELLIOTT - 8 ESSENTIAL ELEMENTS IN THE DIAGNOSIS OF HYPERTROPHIC CARDIOMYOPATHY

PROF. MEHDI NAMDAR – THE VALUE OF ECG ASSESSMENT FOR EARLY RECOGNITION & DIAGNOSIS OF INHERITED CARDIOMYOPATHIES

 

Hereditary Diseases Podcast

Hear the stories behind challenging cases in Australian practice. Join clinical experts as they discuss Fabry disease and provide practical insights from their experiences to facilitate timely diagnosis and effective management. Access the Hereditary diseases podcast, available on Apple and Spotify here:

Clinical Papers

TREATABLE LYSOSOMAL STORAGE DISEASES IN THE ADVENT OF DISEASE-SPECIFIC THERAPY (INTERNAL MEDICINE JOURNAL, NOV 20)

Authors: Heidi Peters, Carolyn Ellaway, Kathleen Nicholls, Katrina Reardon, Jeff Szer

CARDIOLOGY

Perry R, Selvanayagam JB. - The Role of Cardiac Imaging in the Diagnosis and Management of Fabry Disease (JACC Cardiovasc Imaging, 2019)

Hoss S.  - Genetic Testing for Diagnosis of Hypertrophic Cardiomyopathy Mimics: Yield and Clinical Significance (Circ Genom Precis Med. 2020)

Liu D.  - Longitudinal strain bull's eye plot patterns in patients with cardiomyopathy and concentric left ventricular hypertrophy (Eur J Med Res. 2016)

Doheny D. - Fabry Disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac and stroke clinics, 1995-2017 (J Med Genet. 2018)

Moonen A. - Prevalence of Fabry disease in a cohort with unexplained late gadolinium enhancement on cardiac MRI (Int J Cardiol. 2020)

NEUROLOGY

Lidove O. - Fabry disease 'The New Great Imposter': results of the French Observatoire in Internal Medicine Departments (Clin Genet. 2012)

NEPHROLOGY

Jamboti J. - Fabry disease; early diagnosis improves prognosis but diagnosis is often delayed (J Nephropathol. 2017)

Pisani A. - Parapelvic cysts, a distinguishing feature of renal Fabry disease (Nephrol Dial Transplant. 2018)