19955111
{19955111:ZP527NYN}
1
vancouver
50
default
2082
https://neuropediatoolkit.org/wp-content/plugins/zotpress/
statussuccessupdateneededfalseinstancefalsemetarequest_last0request_next0used_cachetruedatakeyZP527NYNlibraryid19955111metacreatorSummaryArbustinietal.parsedDate2018numChildren1bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtArbustiniEDiToroAGiulianiLFavalliVNarulaNGrassoM.CardiacPhenotypesinHereditaryMuscleDisorders.JournaloftheAmericanCollegeofCardiologyInternet.2018cited2019Dec1872202485x2013506.Availablefromltaclass039zp-ItemURL039href039httpslinkinghub.elsevier.comretrievepiiS073510971838584X039gthttpslinkinghub.elsevier.comretrievepiiS073510971838584XltagtltdivgtnltdivgtnltdivgtdataitemTypejournalArticletitleCardiacPhenotypesinHereditaryMuscleDisorderscreatorscreatorTypeauthorfirstNameEloisalastNameArbustinicreatorTypeauthorfirstNameAlessandrolastNameDiTorocreatorTypeauthorfirstNameLorenzolastNameGiulianicreatorTypeauthorfirstNameValentinalastNameFavallicreatorTypeauthorfirstNameNupoorlastNameNarulacreatorTypeauthorfirstNameMaurizialastNameGrassoabstractNoteHereditarymusculardiseasescommonlyinvolvetheheart.Cardiacmanifestationsencompassaspectrumofphenotypesincludingbothcardiomyopathiesandrhythmdisorders.Commonbiomarkerssuggestingcardiomusculardiseasesincludeincreasedcirculatingcreatinekinaseandorlacticacidlevelsordisease-speciufb01cmetabolicindicators.Cardiacandextracardiactraitsimagingtestsfamilystudiesandgenetictestingprovideprecisediagnoses.CardiacphenotypesaremainlydilatedandhypokineticindystrophinopathiesEmery-DreifussmusculardystrophiesandlimbgirdlemusculardystrophieshypertrophicinFriedreichataxiamitochondrialdiseasesglycogenstoragediseasesandfattyacidoxidationdisordersandrestrictiveinmyoufb01brillarmyopathies.Leftventricularnoncompactionisvariablyassociatedwiththedifferentmyopathies.Conductiondefectsandarrhythmiasconstituteamajorphenotypeinmyotonicdystrophiesandskeletalmusclechannelopathies.Althoughtheactualcardiacmanagementisrarelybasedonthecausethecardiacphenotypesneedprecisecharacterizationbecausetheyareoftentheonlyorthepredominantmanifestationsandtheprognosticdeterminantsofmanyhereditarymuscledisorders.JAmCollCardiol2018722485u2013506u00a92018bytheAmericanCollegeofCardiologyFoundation.date112018sectionpartNumberpartTitleDOI10.1016j.jacc.2018.08.2182citationKeyurlhttpslinkinghub.elsevier.comretrievepiiS073510971838584XPMIDPMCIDISSN07351097languageencollections48DQ6UHTdateModified2026-07-15T224146Z
1.
Arbustini E, Di Toro A, Giuliani L, Favalli V, Narula N, Grasso M. Cardiac Phenotypes in Hereditary Muscle Disorders. Journal of the American College of Cardiology [Internet]. 2018 [cited 2019 Dec 18];72(20):2485–506. Available from: https://linkinghub.elsevier.com/retrieve/pii/S073510971838584X