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2069 Assessment of genetic dilated cardiomyopathy in LMNA-mutation carriers by cardiac MRI

Introduction

DCM is characterized by enlargement and impaired contraction of left or both ventricles. With an estimated prevalence of 36/100 000 in adults in the United States, DCM is a significant cause of morbidity and mortality. One third to one half of the causes are familial and the most important risk gene for cardiomyopathy is lamin A/C gene. Thus, we wanted to look for other methods than conventional echocardiography, to recognize this type of serious cardiomyopathy early. We wanted to characterize more precisely the cardiac findings of the Finnish LMNA -patients using magnetic resonance imiging (MRI)

Purpose

To characterize the cardiac functional parameters and myocardial late enhancement pattern in LMNA-carriers.

Methods

12 LMNA-carriers (representing 9 families) who were heterozygotes for one lamin A/C mutation (Ser143Pro, T1085deletion, Ala132Pro, Arg190Tpr) that may cause dilated cardiomyopathy and 14 healthy controls were studied with a 1.5 T MR imager. The volumes, wall thickness and motion of both ventricles were assessed from cine images. The LMNA-carriers were evaluated with late enhancement imaging.

Results

All carriers were in NYHA class I and had sinus rhythm. 6/12 carriers presented with first degree atrioventricular block. 5/12 LMNA-carriers were asymptomatic, palpitation being the most common symptom. The carriers had higher BSA corrected LVEDV (93 +/- 13 vs 80 +/- 20, p = 0.005), LVESV(36 +/- 7 vs 24 +/- 7, p = 0.003) and lower EF(61 +/- 6 vs 70 +/- 3, p = 0.0003). The carriers had decreased regional wall motion at basal inferior, anterior, and septal segments, and decreased thickening of apicoseptal segment. 7/12 carriers showed midwall late enhancement that represents myocardial fibrosis. Inferior segments were most commonly involved; fibrosis was also observed in anterior, septal and lateral walls.

Conclusion

Due to the severity of the disease and the possibility of early intervention (pharmacological, device and surgical therapy) to prevent or attenuate progression to cardiac heart failure and to avoid sudden death we wanted to characterize early familial dilated cardiomyopthy using MRI.

LMNA-mutations are the most common genetic defects in familial dilated cardiomyopathy. To our knowledge this is the largest LMNA-carrier group described with MRI in the world. Our conclusion is that MRI can be used for early diagnosis of cardiomyopathy in known gene carriers and for phenotyping different DCM subgroups. Left ventricular regional dysfunction is consistent with late enhancement in the basal segments.

Author information

Correspondence to Kristel M Antila.

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Open Access This article is published under license to BioMed Central Ltd. This is an Open Access article is distributed under the terms of the Creative Commons Attribution 2.0 International License (https://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Antila, K.M., Koikkalainen, J.R., Lötjönen, J.M. et al. 2069 Assessment of genetic dilated cardiomyopathy in LMNA-mutation carriers by cardiac MRI. J Cardiovasc Magn Reson 10, A338 (2008). https://doi.org/10.1186/1532-429X-10-S1-A338

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Keywords

  • Cardiomyopathy
  • Dilate Cardiomyopathy
  • Atrioventricular Block
  • Regional Wall Motion
  • Late Enhancement