title: Cardiac involvement in Mulibrey nanism: characterization with magnetic resonance imaging.
abstract: Mulibrey nanism (MUL) is an autosomal recessive disorder that is enriched in the Finnish population. Variable degrees of pericardial and myocardial involvement can lead to heart failure and premature death. The purpose of this study was using magnetic resonance imaging (MRI) to assess structural and functional abnormalities of the MUL cardiopathy in all four cardiac chambers as well as in the pericardium. Thirty-one patients with MUL (mean age 27, range 15-50 years) and 16 controls (mean age 31, range 19-45 years) were examined with a Siemens Vision 1.5-T imager. Ten patients had undergone pericardiectomies to relieve symptoms of constrictive pericarditis. In surgery performed 0.5-25 years before MRI, the removed pericardium was found to be thickened and consisting of scarlike fibrosis. Turbo spin echo images were obtained for assessment of pericardial thickness, and breath hold left ventricular (LV) short axis and four-chamber cine images were obtained for the volumetric data. In MRI, pericardial thickness was normal (under 3.4 mm) in all patients with MUL. In the 10 pericardiectomized patients, the remnants of the pericardium were of normal thickness as well. The LV septum (p = 0.01) and posterior wall (p<0.001) were hypertrophied and end-diastolic volumes of both ventricles (p<0.05) were reduced in all patients. The LV systolic function was preserved. The volume chance during the first third of diastole (p = 0.030), the absolute peak filling rate (p = 0.047), and the time to peak rate of LV diastolic filling (p = 0.030) indicated restrictive LV diastolic filling. The right ventricular ejection fraction and contraction of both atria were reduced.
authors.affiliation: Helsinki Medical Imaging Center, Helsinki University Central Hospital, Helsinki, Finland. sari.kivisto@hus.fi
authors.forename: Sari
authors.initials: S
authors.lastname: Kivistö
authors.forename: Marita
authors.initials: M
authors.lastname: Lipsanen-Nyman
authors.forename: Markku
authors.initials: M
authors.lastname: Kupari
authors.forename: Pauli
authors.initials: P
authors.lastname: Hekali
authors.forename: Kirsi
authors.initials: K
authors.lastname: Lauerma
mesh_terms: D000293:Adolescent; D000328:Adult; D002306:Cardiac Volume / Q000502:physiology; D016022:Case-Control Studies; D004392:Dwarfism / Q000473:pathology*; D005355:Fibrosis; D006325:Heart Atria / Q000473:pathology* / Q000503:physiopathology; D006346:Heart Septum / Q000473:pathology; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000473:pathology* / Q000503:physiopathology; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008875:Middle Aged; D009200:Myocardial Contraction / Q000502:physiology; D009206:Myocardium / Q000473:pathology; D010496:Pericardium / Q000473:pathology / Q000601:surgery; D013318:Stroke Volume / Q000502:physiology*; D018754:Ventricular Dysfunction / Q000473:pathology* / Q000503:physiopathology