Diagnostic disparity and identification of two TNNI3 gene mutations, one novel and one arising de novo, in South African patients with restrictive cardiomyopathy and focal ventricular hypertrophy

INTRODUCTION: The minimum criterion for the diagnosis of hypertrophic cardiomyopathy (HCM) is thickening of the left ventricular wall, typically in an asymmetrical or focal fashion, and it requires no functional deficit. Using this criterion, we identified a family with four affected individuals and...

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Detalhes bibliográficos
Publicado no:Cardiovasc J Afr
Main Authors: Mouton, Jomien M, Kinnear, Craig J, Moolman-Smook, Johanna C, Herbst, Philip G, Pellizzon, Adriano S, Goosen, Althea, Brink, Paul A
Formato: Artigo
Idioma:Inglês
Publicado em: Clinics Cardive Publishing 2015
Assuntos:
Cardiovascular Topics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4815569/
https://ncbi.nlm.nih.gov/pubmed/25940119
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5830/CVJA-2015-019
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