Early Familial Dilated Cardiomyopathy: Identification with Determination of Disease State Parameter from Cine MR Image Data

doi:10.1148/radiol.2491071584

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Cardiac Imaging

Early Familial Dilated Cardiomyopathy: Identification with Determination of Disease State Parameter from Cine MR Image Data¹

Juha R. Koikkalainen, DSc, Margareta Antila, MD, Jyrki M. P. Lötjönen, DSc, Tiina Heliö, MD, Kirsi Lauerma, MD, Sari M. Kivistö, MD, Petri Sipola, MD, Maija A. Kaartinen, MD, Satu T. J. Kärkkäinen, MD, Eeva Reissell, MD, Johanna Kuusisto, MD, Markku Laakso, MD, Matej Ore $s$ i $c$ , PhD, Markku S. Nieminen, MD, and Keijo J. Peuhkurinen, MD

¹ From the VTT Technical Research Centre of Finland, Tekniikankatu 1, FIN-33101 Tampere, Finland (J.R.K., J.M.P.L.); Helsinki Medical Imaging Center (M.A., K.L., S.M.K.) and Department of Cardiology (T.H., M.A.K., E.R., M.S.N.), Helsinki University Central Hospital, Helsinki, Finland; Departments of Radiology (P.S.) and Medicine (S.T.J.K., J.K., M.L., K.J.P.), Kuopio University Hospital, Kuopio, Finland; and VTT Technical Research Centre of Finland, Espoo, Finland (M.O.). Received September 7, 2007; revision requested November 13; revision received January 15, 2008; accepted March 28; final version accepted April 21. Supported by the Finnish Foundation for Cardiovascular Research, Medicine Fund of Helsinki University, Instrumentarium Foundation, Helsinki Uni-versity Central Hospital Research Funds (EVO grants T1010K0002, TYH4241, and TYH7106), Finnish Foundation for Cardiovascular Research, and Finnish Funding Agency for Technology and Innovation. Address correspondence to J.R.K. (e-mail: juha.koikkalainen{at}vtt.fi).

Purpose: To characterize early changes in cardiac anatomy and functionfor lamin A/C gene (LMNA) mutation carriers by using magnetic resonance(MR) imaging and to develop tools to analyze and visualize the findings.

Materials and Methods: The ethical review board of the institutionapproved the study, and informed written consent was obtained. Thepatient group consisted of 12 subjects, seven women (mean age, 36years; age range, 18–54 years) and five men (mean age, 28 years;age range, 18–39 years) of Finnish origin, who were each heterozygoteswith one LMNA mutation that may cause familial dilated cardiomyopathy(DCM). All the subjects were judged to be healthy with transthoracicechocardiography. The control group consisted of 14 healthy subjects,11 women (mean age, 41 years; range, 23–54 years) and threemen (mean age, 45 years; range, 34–57 years), of Finnish origin.Cine steady state free precession MR imaging was performed with a1.5-T system. The volumes, wall thickness, and wall motion of bothleft ventricle (LV) and right ventricle were assessed. A method combiningmultiple MR image parameters was used to generate a global cardiacfunction index, the disease state parameter (DSP). A visual fingerprintwas generated to assess the severity of familial DCM.

Results: The mean DSP of the patient group (0.69 ± 0.15 [standarddeviation]) was significantly higher than that of the control group(0.32 ± 0.13) (P = .00002). One subject had an enlarged LV.

Conclusion: Subclinical familial DCM was identified by determinationof the DSP with MR imaging, and this method might be used to recognizefamilial DCM at an early stage.