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

被引：0
作者：
Narsupalli, Sreekanth
Castle, Bruce
Veldtman, Gruschen
机构：
[1] Southampton Univ Hosp, Dept Adult Congenital Heart Dis, Southampton, Hants, England
[2] Princess Anne Hosp, Dept Genet, Southampton, Hants, England
来源：
CARDIOLOGY IN THE YOUNG | 2010年 / 20卷 / 05期
关键词：
Hypertrophic cardiomyopathy; subaortic stenosis; gene mutation; subaortic resection; REDUCTION THERAPY; IMPROVEMENT; REGRESSION; MUTATIONS; MYECTOMY;
D O I：
10.1017/S1047951110000880
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
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
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页码：580 / 583
页数：4
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