Early familial dilated cardiomyopathy: Identification with determination of disease state parameter from cine MR image data

Juha Koikkalainen, Margareta Antila, Jyrki Lötjönen, Tiina Heliö, Kirsi Lauerma, Sari Kivistö, Petri Sipola, Maija Kaartinen, Satu Kärkkäinen, Eeva Reissell, Johanna Kuusisto, Markku Laakso, Matej Orešič, Markku Nieminen, Keijo Peuhkurinen

Research output: Contribution to journalArticleScientificpeer-review

16 Citations (Scopus)


Purpose: To characterize early changes in cardiac anatomy and function for 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 institution approved the study, and informed written consent was obtained. The patient group consisted of 12 subjects, seven women (mean age, 36 years; age range, 18–54 years) and five men (mean age, 28 years; age range, 18–39 years) of Finnish origin, who were each heterozygotes with one LMNA mutation that may cause familial dilated cardiomyopathy (DCM). All the subjects were judged to be healthy with transthoracic echocardiography. The control group consisted of 14 healthy subjects, 11 women (mean age, 41 years; range, 23–54 years) and three men (mean age, 45 years; range, 34–57 years), of Finnish origin. Cine steady state free precession MR imaging was performed with a 1.5-T system. The volumes, wall thickness, and wall motion of both left ventricle (LV) and right ventricle were assessed. A method combining multiple MR image parameters was used to generate a global cardiac function index, the disease state parameter (DSP). A visual fingerprint was generated to assess the severity of familial DCM.

Results: The mean DSP of the patient group (0.69 ± 0.15 [standard deviation]) 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 determination of the DSP with MR imaging, and this method might be used to recognize familial DCM at an early stage.
Original languageEnglish
Pages (from-to)88-96
Issue number1
Publication statusPublished - 2008
MoE publication typeA1 Journal article-refereed


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