Late gadolinium enhancement cardiovascular magnetic resonance in genotyped hypertrophic cardiomyopathy with normal phenotype
© Strijack et al; licensee BioMed Central Ltd. 2008
Received: 25 November 2008
Accepted: 16 December 2008
Published: 16 December 2008
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.
Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.
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