Late gadolinium enhancement cardiovascular magnetic resonance in genotyped hypertrophic cardiomyopathy with normal pheno
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BioMed Central
Open Access
Case report
Late gadolinium enhancement cardiovascular magnetic resonance in genotyped hypertrophic cardiomyopathy with normal phenotype Bradford Strijack1, Vignendra Ariyarajah*2, Reeni Soni3, Davinder S Jassal2,4,5, Cheryl R Greenberg6, Robert McGregor5 and Andrew Morris2 Address: 1Department of Medicine, St. Boniface General Hospital, University of Manitoba, Winnipeg, Manitoba, Canada, 2Division of Cardiology, Department of Cardiac Sciences, St. Boniface General Hospital, University of Manitoba, Winnipeg, Manitoba, Canada, 3Division of Pediatric Cardiology, Department of Pediatric Medicine, St. Boniface Research Centre, University of Manitoba, Winnipeg, Manitoba, Canada, 4Institute of Cardiovascular Sciences, St. Boniface Research Centre, University of Manitoba, Winnipeg, Manitoba, Canada, 5Department of Radiology, St. Boniface General Hospital, University of Manitoba, Winnipeg, Manitoba, Canada and 6Program in Genetics and Metabolism, Children's HospitalHealth Sciences Centre, Winnipeg, Winnipeg, Manitoba, Canada Email: Bradford Strijack - [email protected]; Vignendra Ariyarajah* - [email protected]; Reeni Soni - [email protected]; Davinder S Jassal - [email protected]; Cheryl R Greenberg - [email protected]; Robert McGregor - [email protected]; Andrew Morris - [email protected] * Corresponding author
Published: 16 December 2008 Journal of Cardiovascular Magnetic Resonance 2008, 10:58
doi:10.1186/1532-429X-10-58
Received: 25 November 2008 Accepted: 16 December 2008
This article is available from: http://www.jcmr-online.com/content/10/1/58 © 2008 Strijack et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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.
Case presentation A 35 year-old asymptomatic
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