title: Cardiopulmonary involvement in Fabry's disease.
abstract: BACKGROUND
  Fabry's disease is an X-linked lysosomal storage disease caused by deficiency of alpha-galactosidase A enzyme activity. Decreased enzyme activity leads to accumulation of glycosphingolipid in different tissues, including endothelial and smooth-muscle cells and cardiomyocytes.
  
  
  OBJECTIVE
  There is controversial data on cardiopulmonary involvement in Fabry's disease, because many reports are based on small and selected populations with Fabry's disease. Furthermore, the aetiology of cardiopulmonary symptoms in Fabry's disease is poorly understood.
  
  
  METHODS
  We studied cardiopulmonary involvement in seventeen patients with Fabry's disease (20-65 years, 6 men) using ECG, bicycle stress, cardiac magnetic resonance imaging, spirometry, diffusing capacity and pulmonary high-resolution computed tomography (HRCT) tests. Cardiopulmonary symptoms were compared to observed parameters in cardiopulmonary tests.
  
  
  RESULTS
  Left ventricular hypertrophy (LVH) and reduced exercise capacity are the most apparent cardiac changes in both genders with Fabry's disease. ECG parameters were normal when excluding changes related to LVH. Spirometry showed mild reduction in vital capacity and forced expiratory volume in one second (FEV I), and mean values in diffusing capacity tests were within normal limits. Generally, only slight morphological pulmonary changes were detected using pulmonary HRCT, and they were not associated with changes in pulmonary function. The self-reported amount of pulmonary symptoms associated only with lower ejection fraction (P < 0.001) and longer QRS-duration (P = 0.04) of all measured cardiopulmonary parameters, whereas cardiac symptoms have no statistically significant association with any of these parameters.
  
  
  CONCLUSIONS
  LVH and reduced exercise capacity are the most apparent cardiopulmonary changes in Fabry's disease but they have only a minor association to cardiopulmonary symptoms.Therefore, routine cardiopulmonary evaluation in Fabry's disease using echocardiography is maybe enough when integrated to counselling for aerobic exercise training.
authors.affiliation: Dept. of Clinical Physiology and Nuclear Medicine, Turku University Hospital, Finland. juhkos@utu.fi
authors.forename: Juha W
authors.initials: JW
authors.lastname: Koskenvuo
authors.forename: Ilkka M
authors.initials: IM
authors.lastname: Kantola
authors.forename: Pirjo
authors.initials: P
authors.lastname: Nuutila
authors.forename: Juhani
authors.initials: J
authors.lastname: Knuuti
authors.forename: Riitta
authors.initials: R
authors.lastname: Parkkola
authors.forename: Ilkka
authors.initials: I
authors.lastname: Mononen
authors.forename: Saija
authors.initials: S
authors.lastname: Hurme
authors.forename: Riikka
authors.initials: R
authors.lastname: Kalliokoski
authors.forename: Jorma S
authors.initials: JS
authors.lastname: Viikari
authors.forename: Maria
authors.initials: M
authors.lastname: Wendelin-Saarenhovi
authors.forename: Tuomas O
authors.initials: TO
authors.lastname: Kiviniemi
authors.forename: Jaakko J
authors.initials: JJ
authors.lastname: Hartiala
mesh_terms: D000328:Adult; D000368:Aged; D015415:Biomarkers / Q000097:blood / Q000378:metabolism; D003937:Diagnosis, Differential; D004452:Echocardiography; D004562:Electrocardiography; D005080:Exercise Test; D017079:Exercise Tolerance; D000795:Fabry Disease / Q000097:blood / Q000150:complications* / Q000175:diagnosis* / Q000201:enzymology / Q000503:physiopathology; D005260:Female; D005541:Forced Expiratory Volume; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000097:blood / Q000175:diagnosis* / Q000201:enzymology / Q000209:etiology* / Q000503:physiopathology; D008168:Lung / Q000503:physiopathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D010101:Oxygen Consumption; D012720:Severity of Illness Index; D013147:Spirometry; D014057:Tomography, X-Ray Computed; D014797:Vital Capacity; D000519:alpha-Galactosidase / Q000097:blood / Q000378:metabolism
chemical_list: D015415:Biomarkers; D000519:alpha-Galactosidase