title: Prominent papillary muscles in Fabry disease: a diagnostic marker?
abstract: Fabry disease is often linked with a prominent papillary muscle. It remains unknown whether this sign could be used as a diagnostic marker to screen for Fabry patients. Standard echo was performed in 101 consecutive patients with concentric left ventricular (LV) hypertrophy (28 Fabry, 30 Friedreich, 34 isolated arterial hypertension, 9 amyloidosis) and 50 healthy controls. In addition, the areas of both papillary muscles, as well as the LV endocardial circumference, were manually traced in short axis views. A ratio of papillary muscle size to LV circumference was calculated (PM_LV_ratio). The papillary muscle area was positively correlated to LV wall thickness in this cohort (p < 0.0001; r = 0.58). In all patient subgroups, the absolute papillary muscle area was significantly enlarged and the PM_LV_ratio was significantly higher when compared with controls. However, Fabry patients showed a significantly larger absolute papillary muscle area than Friedreich and amyloidosis patients and a higher PM_LV_ratio than hypertensive and amyloidosis patients. Enlarged absolute papillary muscle area was evidenced in 21 (75%), and increased PM_LV_ratio was found in 22 (78%) of 28 Fabry patients. Combining these two parameters yields a sensitivity of 75% and specificity of 86% for diagnosing Fabry disease with LV hypertrophy. Only 10 of 73 non-Fabry patients (14%) (4 Friedreich, 1 amyloidosis, 5 hypertensive) showed an increased absolute papillary muscle area and PM_LV_ratio. In conclusion, this study confirmed the assumption that the prominent papillary muscle could be an echocardiographic marker for detection of Fabry patients with concentric LV hypertrophy.
authors.affiliation: Department of Internal Medicine I/Center of Cardiovascular Disease, University of Wuerzburg, Germany.
authors.forename: Markus
authors.initials: M
authors.lastname: Niemann
authors.forename: Dan
authors.initials: D
authors.lastname: Liu
authors.forename: Kai
authors.initials: K
authors.lastname: Hu
authors.forename: Sebastian
authors.initials: S
authors.lastname: Herrmann
authors.forename: Frank
authors.initials: F
authors.lastname: Breunig
authors.forename: Jörg
authors.initials: J
authors.lastname: Strotmann
authors.forename: Stefan
authors.initials: S
authors.lastname: Störk
authors.forename: Wolfram
authors.initials: W
authors.lastname: Voelker
authors.forename: Georg
authors.initials: G
authors.lastname: Ertl
authors.forename: Christoph
authors.initials: C
authors.lastname: Wanner
authors.forename: Frank
authors.initials: F
authors.lastname: Weidemann
mesh_terms: D000368:Aged; D000704:Analysis of Variance; D016022:Case-Control Studies; D004452:Echocardiography / Q000379:methods*; D000795:Fabry Disease / Q000000981:diagnostic imaging* / Q000473:pathology; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010210:Papillary Muscles / Q000000981:diagnostic imaging* / Q000473:pathology; D011446:Prospective Studies