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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: gruschen@aol.co.uk
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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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References

1. Maron, BJ. The 50 year history, controversy, and clinical implications of the left ventricular outflow obstruction in hypertrophic cardiomyopathy from idiopathic hypertrophic subaortic stenosis to cardiomyopathy. J Am Coll Cardiol 2009; 54: 191–200.CrossRefGoogle ScholarPubMed
2. Watkins, H, McKenna, WJ, Thierfelder, L. Mutations in the genes for cardiac troponin and alfa tropomyocin in hypertrophic cardiomyopathy. N Eng J Med 1995; 332: 1058–1064.CrossRefGoogle Scholar
3. Forissier, J-F, Carrier, L, Farza, H, Bonne, G, Bercovici, J, Richard, P. Codon 102 of the cardiac toponin T gene is a putative hot spot for mutations in familial hypertrophic cardiomyopathy. Circulation 1996; 94: 3069–3073.CrossRefGoogle Scholar
4. Arad, M. Phenotypic diversity in hypertrophic cardiomyopahty. Hum Mol Genet 2002; 11: 2499–2506.CrossRefGoogle Scholar
5. Mazur, W. Regression of left ventricular hypertrophy after nonsurgical septal reduction therapy for hypertrophic obstructive cardiomyopathy. Circulation 2001; 103: 1492–1496.CrossRefGoogle ScholarPubMed
6. Deb, SJ, Schaff, HV, Dearani, JA, Nishimura, RA, Ommen, SR. Septal myeoctomy results in regression of left ventricular hypertrophy in patients with hypertrophic obstructive cardiomyopathy. Ann Thorac Surg 2004; 78: 2118–2122.CrossRefGoogle ScholarPubMed
7. Durand, E. Non-surgical myocardial reduction by coil embolization for hypertrophic obstructive cardiomyopathy: early and 6 month follow up. Eur Heart J 2008; 29: 348–355.CrossRefGoogle Scholar
8. Kim, J-J, Lee, CW, Park, S-W, et al. Improvement in exercise capacity and exercise blood pressure response after transcoronary alcohol ablation tharapy of septal hypertrophy in hypertrophic cardiomyopathy. Am J Cardiol 1999; 83: 1220–1223.CrossRefGoogle Scholar
9. Ralph-Edwards, A, Woo, A, McCrindle, BW, et al. Hypertrophic obstructive cardiomyopathy: comparison of outcomes after myectomy or alcohol ablation adjusted by propensity score. J Thorac Cardiovasc Surg 2005; 129: 351–358.CrossRefGoogle ScholarPubMed
10. Nielsen, CD, Killip, D, Spencer, WH. Nonsurgical reduction therapy for hypertrophic obstructive cardiomyopathy: short-term results in 50 consecutive procedures. Clin Cardiol 2003; 26: 275–279.CrossRefGoogle ScholarPubMed
11. Maron, BJ, Nishimura, RA, Mckenna, WJ, Rakowski, H. Assessment of permanent Dual-chamber pacing as a treatment for drug-refractory symptomatic patients with obstructive hypertrophic cardiomyopathy. Circulation 1999; 99: 2927–2933.CrossRefGoogle ScholarPubMed
12. Fananapazir, L, Epstein, ND, Curiel, RV, Panza, JA. Long-term results of Dual-chamber (DDD) pacing in obstructive hypertrophic cardiomyopathy. Circulation 1994; 90: 2731–2742.CrossRefGoogle ScholarPubMed