title: Late gadolinium enhancement cardiovascular magnetic resonance in genotyped hypertrophic cardiomyopathy with normal phenotype.
abstract: A 35 year-old asymptomatic Caucasian female with a family history of hypertrophic cardiomyopathy (HCM) was referred for cardiologic evaluation. The electrocardiogram and transthoracic echocardiogram were normal. Cardiovascular magnetic resonance (CMR) was performed for further assessment of myocardial function and presence of myocardial scar. CMR showed normal left ventricular systolic size, measurements and function. However, there was extensive, diffuse late gadolinium enhancement (LGE) throughout the left ventricle. This finding was consistent with extensive myocardial scarring and was highly suggestive of advanced, non-ischemic cardiomyopathy. Genotyping showed a heterozygous mis-sense mutation (275G>A) in the cardiac troponin T (TNNT2) gene, which is causally associated with HCM. There have been no previous reports of such extensive, atypical pattern of myocardial scarring despite an otherwise structurally and functionally normal left ventricle in an asymptomatic individual with HCM. This finding has important implications for phenotype screening in HCM.
authors.affiliation: Department of Medicine, St. Boniface General Hospital, University of Manitoba, Winnipeg, Manitoba, Canada. b.strijack@sbgh.mb.ca
authors.forename: Bradford
authors.initials: B
authors.lastname: Strijack
authors.forename: Vignendra
authors.initials: V
authors.lastname: Ariyarajah
authors.forename: Reeni
authors.initials: R
authors.lastname: Soni
authors.forename: Davinder S
authors.initials: DS
authors.lastname: Jassal
authors.forename: Cheryl R
authors.initials: CR
authors.lastname: Greenberg
authors.forename: Robert
authors.initials: R
authors.lastname: McGregor
authors.forename: Andrew
authors.initials: A
authors.lastname: Morris
mesh_terms: D000328:Adult; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000235:genetics / Q000473:pathology*; D003287:Contrast Media; D004452:Echocardiography; D004562:Electrocardiography; D005260:Female; D005682:Gadolinium; D005838:Genotype; D006352:Heart Ventricles / Q000473:pathology; D006801:Humans; D019028:Magnetic Resonance Imaging, Cine; D020125:Mutation, Missense; D009206:Myocardium / Q000473:pathology*; D010641:Phenotype; D020107:Troponin T / Q000235:genetics
chemical_list: D003287:Contrast Media; D020107:Troponin T; D005682:Gadolinium