title: Role of serum N-terminal pro-brain natriuretic peptide measurement in diagnosis of cardiac involvement in patients with anderson-fabry disease.
abstract: Enzyme replacement therapy has the potential to delay or reverse adverse cardiac remodeling in Anderson-Fabry disease (AFD); however, the current indications for enzyme replacement therapy rely on detecting relatively advanced features of the disease. We aimed to determine the relation between the serum N-terminal pro-brain natriuretic peptide (NT-proBNP) concentration and cardiac abnormalities in patients with AFD. We hypothesized that it might help to detect early disease. NT-proBNP was measured under at rest conditions in 117 patients with AFD (age 48 ± 15 years, 46.2% men). All patients underwent clinical evaluation with electrocardiography and echocardiography. The median NT-proBNP concentration was 24 pmol/L (range <5 to 6,059). Of the 117 patients, 67 (57%) had elevated, age-corrected, NT-proBNP levels. In the 56 patients (48%) with normal echocardiographic findings, the NT-proBNP levels were greater than the age-predicted cutoffs in 10 of 25 patients with abnormal electrocardiographic findings and 3 of 31 patients with normal electrocardiographic findings (p <0.05). On multiple regression analysis, age, creatinine, left atrial volume index, E/Ea, and the presence of abnormal electrocardiographic findings were independently associated with log NT-proBNP (R(2) = 0.67, p <0.05). In conclusion, NT-proBNP concentrations were elevated in patients with AFD and early cardiac involvement, suggesting its measurement could assist in decisions regarding the timing of enzyme replacement therapy.
authors.affiliation: Heart Hospital, University College London Hospitals, National Health Service Foundation Trust, London, United Kingdom. c.coats@ucl.ac.uk
authors.forename: Caroline J
authors.initials: CJ
authors.lastname: Coats
authors.forename: Valentina
authors.initials: V
authors.lastname: Parisi
authors.forename: Monica
authors.initials: M
authors.lastname: Ramos
authors.forename: Kalaiarasi
authors.initials: K
authors.lastname: Janagarajan
authors.forename: Constantinos
authors.initials: C
authors.lastname: O'Mahony
authors.forename: Anne
authors.initials: A
authors.lastname: Dawnay
authors.forename: Robin H
authors.initials: RH
authors.lastname: Lachmann
authors.forename: Elaine
authors.initials: E
authors.lastname: Murphy
authors.forename: Atul
authors.initials: A
authors.lastname: Mehta
authors.forename: Derralynn
authors.initials: D
authors.lastname: Hughes
authors.forename: Perry M
authors.initials: PM
authors.lastname: Elliott
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D015415:Biomarkers / Q000097:blood; D001706:Biopsy; D003430:Cross-Sectional Studies; D003937:Diagnosis, Differential; D015150:Echocardiography, Doppler; D004562:Electrocardiography; D000795:Fabry Disease / Q000097:blood* / Q000150:complications / Q000453:epidemiology; D005260:Female; D005500:Follow-Up Studies; D006352:Heart Ventricles / Q000000981:diagnostic imaging / Q000473:pathology* / Q000503:physiopathology; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000097:blood / Q000175:diagnosis* / Q000209:etiology; D015994:Incidence; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D032383:Myocytes, Cardiac / Q000648:ultrastructure; D020097:Natriuretic Peptide, Brain / Q000097:blood*; D010446:Peptide Fragments / Q000097:blood*; D011379:Prognosis; D011446:Prospective Studies; D011498:Protein Precursors; D012307:Risk Factors; D006113:United Kingdom / Q000453:epidemiology; D016277:Ventricular Function, Left; D055815:Young Adult
chemical_list: D015415:Biomarkers; D010446:Peptide Fragments; D011498:Protein Precursors; C109794:pro-brain natriuretic peptide (1-76); D020097:Natriuretic Peptide, Brain