Abstract:  Objective ToreportandanalyzecardiacinvolvementintwoEmery-Dreifuss
musculardystrophy ( EDMD ) pedigreescausedbyC.1583C>G mutationofthelaminA
/ Cgene
(
LMNA ) .Methods ThecharacteristicsofmembersoftwofamilieswithEDMDwereevaluated
clinically , pathologicallyandgenetically.Skeletalmusclebiopsiesandpathologicalanalysiswere
performedintwoprobands.Electrocardiogram , ultrasoundcardiographyand 99 Tc
M
-MIBI-gated
myocardiacperfusionimaging (
99 Tc M
-MIBIGPI ) wereperformedonthreepatients.Results
Familyhistoryinvestigationsrevealedanautosomaldominanttransmissionpatternofdiseasein
family1 , andasporadiccaseinfamily2.Threeaffectedpatientsallpresentedtypicalclinical
featuresof EDMDincludingjointcontracture , muscle weakness , andcardiacinvolvement.
Musclehistopathologicalstudyrevealeddystrophicfeatures.Moreover , eachaffectedindividual
presentedwithcardiacarrhythmia , evidentassinustachycardia , atrialflutter , orcomplete
atrioventricularblock.Cardiacimagingstudyshoweddilatedcardiomyopathyintwopatients 
oneofwhom wasundergoingheartfailure , thesecondpatienthadnoobviousabnormalitiesin
cardiacstructureorfunction.Allthreeaffectedindividualshadaheterozygousmissensemutation
in LMNA gene ( C.1583C>G ), whichcausedaT528Raminoacidchangein LMNA protein.
Conclusion Three patients were identified with EDMD , clinically , pathologically and
genetically.CausativegenewasmissensemutationC.1583C>Gof LMNA .EDMDcausedby
mutationof LMNA presented moreseverecardiacinvolvement , complicated with cardiac
conductionsystemdefect , cardiomyopathyand / orheartfailure.

Key words: musculardystrophy, Emery-Dreifuss , heartdisease