title: [Dilated cardiomyopathy as part of familial dystrophia myotonica].
abstract: Dilated cardiomyopathy (DCM) is a condition characterized by non-ischaemic heart failure and is often hereditary. We present a family in which the proband had DCM in isolation while several relatives presented with myotonia, hypotonia, poly-hydramnion during pregnancy or a mental handicap. The disease presentation and subsequent genetic investigations were consistent with a diagnosis of dystrophia myotonica. This case presentation illustrate that DCM may be part of a systemic condition and that familial investigations may have important implications for correct diagnosis, treatment and counseling.
authors.affiliation: Hjertemedicinsk Afdeling, Sygehus Lillebælt, Kabbeltoft 25, 7100 Vejle. t.gadgaard@hotmail.com.
authors.forename: Tenna
authors.initials: T
authors.lastname: Gadgaard
authors.forename: Hans
authors.initials: H
authors.lastname: Eiskjær
authors.forename: Peter Kjestrup Axel
authors.initials: PK
authors.lastname: Jensen
authors.forename: Pia Sønderby
authors.initials: PS
authors.lastname: Christensen
authors.forename: Jens
authors.initials: J
authors.lastname: Mogensen
mesh_terms: D002311:Cardiomyopathy, Dilated / Q000175:diagnosis / Q000235:genetics; D002585:Cesarean Section; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D008297:Male; D008875:Middle Aged; D009223:Myotonic Dystrophy / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D065636:Myotonin-Protein Kinase / Q000235:genetics; D010375:Pedigree; D066087:Perinatal Death; D055815:Young Adult
chemical_list: C585517:DMPK protein, human; D065636:Myotonin-Protein Kinase