Lamin A/C mutation affecting primarily the right side of the heart

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Ollila , L , Kuusisto , J , Peuhkurinen , K , Kärkkäinen , S , Tuomainen , P , Kaartinen , M , Raheem , O , Udd , B , Magga , J , Rapola , J , Lahtinen , A , Lehtonen , E , Holmström , M , Kivistö , S M , Widén , E , Saksa , M & Heliö , T 2013 , ' Lamin A/C mutation affecting primarily the right side of the heart ' , Cardiogenetics , vol. 3 , no. 1 , pp. 1 . https://doi.org/10.4081/cardiogenetics.2013.e1

Title: Lamin A/C mutation affecting primarily the right side of the heart
Author: Ollila, Laura; Kuusisto, Johanna; Peuhkurinen, Keijo; Kärkkäinen, Satu; Tuomainen, Petri; Kaartinen, Maija; Raheem, Olayinka; Udd, Bjarne; Magga, Jarkko; Rapola, Janne; Lahtinen, Annukka; Lehtonen, Eero; Holmström, Miia; Kivistö, Sari Marjut; Widén, Elisabeth; Saksa, Markku; Heliö, Tiina
Contributor: University of Helsinki, Laboratory Animal Centre
University of Helsinki, Department of Diagnostics and Therapeutics
University of Helsinki, Department of Diagnostics and Therapeutics
University of Helsinki, Institute for Molecular Medicine Finland
University of Helsinki, Department of Medicine
Date: 2013
Language: eng
Number of pages: 1
Belongs to series: Cardiogenetics
ISSN: 2035-8148
URI: http://hdl.handle.net/10138/161898
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.
Subject: LMNA, Lamin A/C, dilated cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy.
3121 Internal medicine
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