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

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
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 ; Orešič, 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 Orešič and Markku Nieminen and Keijo Peuhkurinen",
year = "2008",
doi = "10.1148/radiol.2491071584",
language = "English",
volume = "249",
pages = "88--96",
journal = "Radiology",
issn = "0033-8419",
publisher = "Radiological Society of North America Inc.",
number = "1",

}

Koikkalainen, J, Antila, M, Lötjönen, J, Heliö, T, Lauerma, K, Kivistö, S, Sipola, P, Kaartinen, M, Kärkkäinen, S, Reissell, E, Kuusisto, J, Laakso, M, Orešič, 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; Orešič, 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 - Orešič, 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 -