Proposed Stages of Myocardial Phenotype Development in Fabry Disease

JACC. Cardiovascular Imaging
Sabrina NordinJames C Moon

Abstract

This study sought to explore the Fabry myocardium in relation to storage, age, sex, structure, function, electrocardiogram changes, blood biomarkers, and inflammation/fibrosis. Fabry disease (FD) is a rare, x-linked lysosomal storage disorder. Mortality is mainly cardiovascular with men exhibiting cardiac symptoms earlier than women. By cardiovascular magnetic resonance, native T1 is low in FD because of sphingolipid accumulation. A prospective, observational study of 182 FD (167 adults, 15 children; mean age 42 ± 17 years, 37% male) who underwent cardiovascular magnetic resonance including native T1, late gadolinium enhancement (LGE), and extracellular volume fraction, 12-lead electrocardiogram, and blood biomarkers (troponin and N-terminal pro-brain natriuretic peptide). In children, T1 was never below the normal range, but was lower with age (9 ms/year, r = -0.78 children; r = -0.41 whole cohort; both p < 0.001). Over the whole cohort, the T1 reduction with age was greater and more marked in men (men: -1.9 ms/year, r = -0.51, p < 0.001; women: -1.4 ms/year, r = -0.47 women, p < 0.001). Left ventricular hypertrophy (LVH), LGE, and electrocardiogram abnormalities occur earlier in men. Once LVH occurs, T1 demonstrates major sex...Continue Reading

Associated Clinical Trials

Citations

Jun 8, 2018·QJM : Monthly Journal of the Association of Physicians·S BaigR P Steeds
Jul 5, 2019·Circulation. Cardiovascular Imaging·Kristopher D KnottJames C Moon
Jul 13, 2019·Virchows Archiv : an International Journal of Pathology·Ornella LeoneIacopo Olivotto
Nov 14, 2019·Circulation. Cardiovascular Imaging·Albree Tower-Rader, Wael A Jaber
Feb 23, 2020·Journal of Inherited Metabolic Disease·Sanne J van der VeenMirjam Langeveld
Jul 9, 2020·European Journal of Heart Failure·Aleš LinhartPerry Elliott
Sep 25, 2020·La Radiologia medica·Nicola GaleaRiccardo Faletti
May 8, 2020·Journal of Nuclear Cardiology : Official Publication of the American Society of Nuclear Cardiology·Wanda AcampaAlberto Cuocolo
Oct 30, 2019·Radiology·Stefan L Zimmerman
Jun 10, 2020·European Heart Journal Cardiovascular Imaging·João B AugustoMehdi Namdar
Nov 10, 2020·Journal of Cardiovascular Magnetic Resonance : Official Journal of the Society for Cardiovascular Magnetic Resonance·Tim LeinerDudley J Pennell
Aug 7, 2020·AJR. American Journal of Roentgenology·Gauri R KarurKate Hanneman
Nov 4, 2020·International Journal of Molecular Sciences·Irene SimonettaAntonio Pinto
Feb 13, 2021·International Journal of Molecular Sciences·Daniela Sorriento, Guido Iaccarino
Feb 20, 2021·Journal of the American College of Cardiology·Maurizio PieroniMehdi Namdar
May 1, 2021·International Journal of Molecular Sciences·Olga AzevedoDamião Cunha
Apr 11, 2021·Expert Review of Cardiovascular Therapy·Katia Menacho MedinaAnna S Herrey
Jun 23, 2021·International Journal of Cardiology·Mehdi NamdarPeter Macfarlane
Jul 19, 2021·International Journal of Cardiology·Stefano FigliozziMassimo Lombardi
Jul 9, 2021·The British Journal of Radiology·Gloria CareddaLuca Saba

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