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 Oresic, Markku Nieminen, Keijo Peuhkurinen

    Research output: Contribution to journalArticleScientificpeer-review

    15 Citations (Scopus)

    Abstract

    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
    Number of pages9
    JournalRadiology
    Volume249
    Issue number1
    DOIs
    Publication statusPublished - 2008
    MoE publication typeA1 Journal article-refereed

    Fingerprint

    Magnetic Resonance Spectroscopy
    Lamin Type A
    Heart Ventricles
    Magnetic Resonance Imaging
    Ethical Review
    Control Groups
    Mutation
    Dermatoglyphics
    Heterozygote
    Informed Consent
    Genes
    Echocardiography
    Anatomy
    Healthy Volunteers
    Familial dilated cardiomyopathy

    Cite this

    Koikkalainen, J., Antila, M., Lötjönen, J., Heliö, T., Lauerma, K., Kivistö, S., ... Peuhkurinen, K. (2008). Early familial dilated cardiomyopathy: Identification with determination of disease state parameter from cine MR image data. Radiology, 249(1), 88-96. https://doi.org/10.1148/radiol.2491071584
    Koikkalainen, Juha ; Antila, Margareta ; Lötjönen, Jyrki ; Heliö, Tiina ; Lauerma, Kirsi ; Kivistö, Sari ; Sipola, Petri ; Kaartinen, Maija ; Kärkkäinen, Satu ; Reissell, Eeva ; Kuusisto, Johanna ; Laakso, Markku ; Oresic, Matej ; Nieminen, Markku ; Peuhkurinen, Keijo. / Early familial dilated cardiomyopathy : Identification with determination of disease state parameter from cine MR image data. In: Radiology. 2008 ; Vol. 249, No. 1. pp. 88-96.
    @article{6fc1adb60dfd45cba4e4b85cfc034e9f,
    title = "Early familial dilated cardiomyopathy: Identification with determination of disease state parameter from cine MR image data",
    abstract = "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.",
    author = "Juha Koikkalainen and Margareta Antila and Jyrki L{\"o}tj{\"o}nen and Tiina Heli{\"o} and Kirsi Lauerma and Sari Kivist{\"o} and Petri Sipola and Maija Kaartinen and Satu K{\"a}rkk{\"a}inen and Eeva Reissell and Johanna Kuusisto and Markku Laakso and Matej Oresic and Markku Nieminen and Keijo Peuhkurinen",
    year = "2008",
    doi = "10.1148/radiol.2491071584",
    language = "English",
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    pages = "88--96",
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    Koikkalainen, J, Antila, M, Lötjönen, J, Heliö, T, Lauerma, K, Kivistö, S, Sipola, P, Kaartinen, M, Kärkkäinen, S, Reissell, E, Kuusisto, J, Laakso, M, Oresic, M, Nieminen, M & Peuhkurinen, K 2008, 'Early familial dilated cardiomyopathy: Identification with determination of disease state parameter from cine MR image data', Radiology, vol. 249, no. 1, pp. 88-96. https://doi.org/10.1148/radiol.2491071584

    Early familial dilated cardiomyopathy : Identification with determination of disease state parameter from cine MR image data. / Koikkalainen, Juha; Antila, Margareta; Lötjönen, Jyrki; Heliö, Tiina; Lauerma, Kirsi; Kivistö, Sari; Sipola, Petri; Kaartinen, Maija; Kärkkäinen, Satu; Reissell, Eeva; Kuusisto, Johanna; Laakso, Markku; Oresic, Matej; Nieminen, Markku; Peuhkurinen, Keijo.

    In: Radiology, Vol. 249, No. 1, 2008, p. 88-96.

    Research output: Contribution to journalArticleScientificpeer-review

    TY - JOUR

    T1 - Early familial dilated cardiomyopathy

    T2 - Identification with determination of disease state parameter from cine MR image data

    AU - Koikkalainen, Juha

    AU - Antila, Margareta

    AU - Lötjönen, Jyrki

    AU - Heliö, Tiina

    AU - Lauerma, Kirsi

    AU - Kivistö, Sari

    AU - Sipola, Petri

    AU - Kaartinen, Maija

    AU - Kärkkäinen, Satu

    AU - Reissell, Eeva

    AU - Kuusisto, Johanna

    AU - Laakso, Markku

    AU - Oresic, Matej

    AU - Nieminen, Markku

    AU - Peuhkurinen, Keijo

    PY - 2008

    Y1 - 2008

    N2 - 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.

    AB - 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.

    U2 - 10.1148/radiol.2491071584

    DO - 10.1148/radiol.2491071584

    M3 - Article

    VL - 249

    SP - 88

    EP - 96

    JO - Radiology

    JF - Radiology

    SN - 0033-8419

    IS - 1

    ER -