title: 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.
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.
authors.affiliation: Department of Genetics, Princess Anne Hospital, United Kingdom.
authors.forename: Sreekanth
authors.initials: S
authors.lastname: Narsupalli
authors.forename: Bruce
authors.initials: B
authors.lastname: Castle
authors.forename: Gruschen
authors.initials: G
authors.lastname: Veldtman
mesh_terms: D000328:Adult; D006348:Cardiac Surgical Procedures / Q000379:methods*; D002312:Cardiomyopathy, Hypertrophic / Q000097:blood / Q000150:complications* / Q000601:surgery; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000175:diagnosis / Q000209:etiology* / Q000503:physiopathology; D011247:Pregnancy; D011249:Pregnancy Complications, Cardiovascular; D020127:Recovery of Function; D014336:Troponin / Q000097:blood*; D016277:Ventricular Function, Left / Q000502:physiology*; D014694:Ventricular Outflow Obstruction / Q000175:diagnosis / Q000209:etiology / Q000601:surgery*
chemical_list: D014336:Troponin