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Cardiogenetics
Volume 3
Issue 1
10.4081/cardiogenetics.2013.e1
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Cardiogenetics is published by MDPI from Volume 10 Issue 2 (2020). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with PAGEPress.
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Article

Lamin A/C Mutation Affecting Primarily the Right Side of the Heart

by
Laura Ollila
1,*,
Johanna Kuusisto
2,
Keijo Peuhkurinen
2,
Satu Kärkkäinen
2,
Petri Tuomainen
2,
Maija Kaartinen
1,
Olayinka Raheem
3,
Bjarne Udd
3,4,5,
Jarkko Magga
6,
Janne Rapola
1,
Annukka M. Lahtinen
7,
Eero Lehtonen
8,9,
Miia Holmström
10,
Sari Kivistö
10,
Elisabeth Widén
11,
Markku Saksa
12 and
Tiina Heliö
1,*
1
Helsinki University Hospital, Department of Cardiology, Helsinki, Finland
2
University of Tampere, Tampere, Finland
3
Neuromuscular Research Unit, Tampere University and University Hospital, Tampere, Finland
4
Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland
5
Neurology Department, Vaasa Central Hospital, Vaasa, Finland
6
Oulu University Hospital, Oulu, Finland
7
Research Programs Unit, Molecular Medicine and Department of Medicine, University of Helsinki, Helsinki, Finland
8
Department of Pathology, University of Helsinki, Helsinki, Finland
9
Laboratory Animal Centre, University of Helsinki, Helsinki, Finland
10
Department of Radiology, University of Helsinki and HUS Radiology (Medical Imaging Center), Helsinki, Finland
11
Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland
12
Kanta-Häme Central Hospital, Hämeenlinna, Finland
 
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Authors to whom correspondence should be addressed.
Cardiogenetics 2013, 3(1), e1; https://doi.org/10.4081/cardiogenetics.2013.e1
Submission received: 5 November 2012 / Revised: 15 January 2013 / Accepted: 19 January 2013 / Published: 15 April 2013

Abstract

LMNA mutations are amongst the most important causes of familial dilated cardiomyopathy. The most important cause of arrhythmogenic right ventricular cardiomyopathy (ARVC) is desmosomal pathology. The aim of the study was to elucidate the role of LMNA mutations among Finnish cardiomyopathy patients. We screened 135 unrelated cardiomyopathy patients for LMNA mutations. Because of unusual phenotype, two patients were screened for the known Finnish ARVC-related mutations of desmosomal genes, and their Plakophilin-2b gene was sequenced. Myocardial samples from two patients were examined by immunohistochemical plakoglobin staining and in one case by electron microscopy. We found a new LMNA mutation Phe237Ser in a family of five affected members with a cardiomyopathy affecting primarily the right side of the heart. The phenotype resembles ARVC but does not fulfill the Task Force Criteria. The main clinical manifestations of the mutation were severe tricuspid insufficiency, right ventricular enlargement and failure. Three of the affected patients died of the heart disease, and the two living patients received heart transplants at ages 44 and 47. Electron microscopy showed nuclear blebbing compatible with laminopathy. Immunohisto - chemical analysis did not suggest desmosomal pathology. No desmosomal mutations were found. The Phe237Ser LMNA mutation causes a phenotype different from traditional cardiolaminopathy. Our findings suggest that cardiomyopathy affecting primarily the right side of the heart is not always caused by desmosomal pathology. Our observations highlight the challenges in classifying cardiomyopathies, as there often is significant overlap between the traditional categories.
Keywords: LMNA; Lamin A/C; dilated cardiomyopathy; arrhythmogenic right ventricular cardiomyopathy LMNA; Lamin A/C; dilated cardiomyopathy; arrhythmogenic right ventricular cardiomyopathy

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MDPI and ACS Style

Ollila, L.; Kuusisto, J.; Peuhkurinen, K.; Kärkkäinen, S.; Tuomainen, P.; Kaartinen, M.; Raheem, O.; Udd, B.; Magga, J.; Rapola, J.; et al. Lamin A/C Mutation Affecting Primarily the Right Side of the Heart. Cardiogenetics 2013, 3, e1. https://doi.org/10.4081/cardiogenetics.2013.e1

AMA Style

Ollila L, Kuusisto J, Peuhkurinen K, Kärkkäinen S, Tuomainen P, Kaartinen M, Raheem O, Udd B, Magga J, Rapola J, et al. Lamin A/C Mutation Affecting Primarily the Right Side of the Heart. Cardiogenetics. 2013; 3(1):e1. https://doi.org/10.4081/cardiogenetics.2013.e1

Chicago/Turabian Style

Ollila, Laura, Johanna Kuusisto, Keijo Peuhkurinen, Satu Kärkkäinen, Petri Tuomainen, Maija Kaartinen, Olayinka Raheem, Bjarne Udd, Jarkko Magga, Janne Rapola, and et al. 2013. "Lamin A/C Mutation Affecting Primarily the Right Side of the Heart" Cardiogenetics 3, no. 1: e1. https://doi.org/10.4081/cardiogenetics.2013.e1

APA Style

Ollila, L., Kuusisto, J., Peuhkurinen, K., Kärkkäinen, S., Tuomainen, P., Kaartinen, M., Raheem, O., Udd, B., Magga, J., Rapola, J., Lahtinen, A. M., Lehtonen, E., Holmström, M., Kivistö, S., Widén, E., Saksa, M., & Heliö, T. (2013). Lamin A/C Mutation Affecting Primarily the Right Side of the Heart. Cardiogenetics, 3(1), e1. https://doi.org/10.4081/cardiogenetics.2013.e1

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