title: Late gadolinium enhanced cardiovascular magnetic resonance of lamin A/C gene mutation related dilated cardiomyopathy.
abstract: BACKGROUND
  The purpose of this study was to identify early features of lamin A/C gene mutation related dilated cardiomyopathy (DCM) with cardiovascular magnetic resonance (CMR). We characterise myocardial and functional findings in carriers of lamin A/C mutation to facilitate the recognition of these patients using this method. We also investigated the connection between myocardial fibrosis and conduction abnormalities.
  
  
  METHODS
  Seventeen lamin A/C mutation carriers underwent CMR. Late gadolinium enhancement (LGE) and cine images were performed to evaluate myocardial fibrosis, regional wall motion, longitudinal myocardial function, global function and volumetry of both ventricles. The location, pattern and extent of enhancement in the left ventricle (LV) myocardium were visually estimated.
  
  
  RESULTS
  Patients had LV myocardial fibrosis in 88% of cases. Segmental wall motion abnormalities correlated strongly with the degree of enhancement. Myocardial enhancement was associated with conduction abnormalities. Sixty-nine percent of our asymptomatic or mildly symptomatic patients showed mild ventricular dilatation, systolic failure or both in global ventricular analysis. Decreased longitudinal systolic LV function was observed in 53% of patients.
  
  
  CONCLUSIONS
  Cardiac conduction abnormalities, mildly dilated LV and depressed systolic dysfunction are common in DCM caused by a lamin A/C gene mutation. However, other cardiac diseases may produce similar symptoms. CMR is an accurate tool to determine the typical cardiac involvement in lamin A/C cardiomyopathy and may help to initiate early treatment in this malignant familiar form of DCM.
authors.affiliation: Department of Radiology, University of Helsinki and HUS Radiology (Medical Imaging Center) P,O, Box 340, FI-00029 HUS, Finland. miia.holmstrom@hus.fi
authors.forename: Miia
authors.initials: M
authors.lastname: Holmström
authors.forename: Sari
authors.initials: S
authors.lastname: Kivistö
authors.forename: Tiina
authors.initials: T
authors.lastname: Heliö
authors.forename: Raija
authors.initials: R
authors.lastname: Jurkko
authors.forename: Maija
authors.initials: M
authors.lastname: Kaartinen
authors.forename: Margareta
authors.initials: M
authors.lastname: Antila
authors.forename: Eeva
authors.initials: E
authors.lastname: Reissell
authors.forename: Johanna
authors.initials: J
authors.lastname: Kuusisto
authors.forename: Satu
authors.initials: S
authors.lastname: Kärkkäinen
authors.forename: Keijo
authors.initials: K
authors.lastname: Peuhkurinen
authors.forename: Juha
authors.initials: J
authors.lastname: Koikkalainen
authors.forename: Jyrki
authors.initials: J
authors.lastname: Lötjönen
authors.forename: Kirsi
authors.initials: K
authors.lastname: Lauerma
mesh_terms: D000293:Adolescent; D000328:Adult; D002311:Cardiomyopathy, Dilated / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D016009:Chi-Square Distribution; D003287:Contrast Media; D004562:Electrocardiography; D005260:Female; D005355:Fibrosis; D005387:Finland; D020022:Genetic Predisposition to Disease; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000175:diagnosis / Q000235:genetics; D034904:Lamin Type A / Q000235:genetics*; D019028:Magnetic Resonance Imaging, Cine; D008297:Male; D008536:Meglumine; D008875:Middle Aged; D009154:Mutation; D009206:Myocardium / Q000473:pathology; D009942:Organometallic Compounds; D010641:Phenotype; D011237:Predictive Value of Tests; D012720:Severity of Illness Index; D018487:Ventricular Dysfunction, Left / Q000175:diagnosis / Q000235:genetics; D016277:Ventricular Function, Left; D016278:Ventricular Function, Right
chemical_list: D003287:Contrast Media; C494847:LMNA protein, human; D034904:Lamin Type A; D009942:Organometallic Compounds; D008536:Meglumine; C072417:gadoterate meglumine