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Resolution of left ventricular and asymmetric septal hypertrophy after resection of left ventricular outflow obstruction in a patient with troponin-positive hypertrophic obstructive cardiomyopathy: a case report

Published online by Cambridge University Press:  21 July 2010

Sreekanth Narsupalli ,
Bruce Castle  and
Gruschen Veldtman
Sreekanth Narsupalli
Affiliation:
Department of Genetics, Princess Anne Hospital; Department of Adult Congenital Heart Disease, Southampton University Hospital, Southampton, United Kingdom
Bruce Castle
Affiliation:
Department of Genetics, Princess Anne Hospital; Department of Adult Congenital Heart Disease, Southampton University Hospital, Southampton, United Kingdom
Gruschen Veldtman*
Affiliation:
Department of Genetics, Princess Anne Hospital; Department of Adult Congenital Heart Disease, Southampton University Hospital, Southampton, United Kingdom
*
Correspondence to: Dr G. R. Veldtman, Department of Adult Congenital Heart Disease, Southampton University Hospitals NHS Trust, Tremona Road, Mailpoint 46, Southampton, SO 16 6YD, United Kingdom. Tel: 0238 0796055; Fax: 0238 0794526; E-mail: [email protected]
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Abstract

We report the case of a young woman with a troponin mutation of C to T nucleotide substitution in exon 17 of troponin 2 (TNNT2; c.868C.T; p.Arg288Cys) leading to hypertrophic obstructive cardiomyopathy. Following surgical resection of the outflow obstruction, she had near-complete resolution of her asymmetric left ventricular hypertrophy, such that cardiomyopathy could no longer be diagnosed on echocardiographic grounds. We believe that this unusual case shows important aspects relating to the interplay between genetic and environmental mechanisms and the overlap in the phenotypic spectrum between primary subaortic stenosis and obstructive hypertrophic cardiomyopathy.

Keywords

Hypertrophic cardiomyopathysubaortic stenosisgene mutationsubaortic resection
Type
Brief Reports
Information
Cardiology in the Young , Volume 20 , Issue 5 , October 2010 , pp. 580 - 583
Copyright
Copyright © Cambridge University Press 2010

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