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Genotype and phenotype in hypertrophic cardiomyopathy.

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Presentation title: Genotype and phenotype in hypertrophic cardiomyopathy.
Author(s): McKenna W.J. (London, GB)
Date: 29 August 2004
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Genotype – Phenotype in HCM: Implications of Recent Genetic Advances William J. McKenna, MD
Sarcomere Disease
Hypertrophic Cardiomyopathy

Hypertrophic Cardiomyopathy


HCM Disease Genes
-MHC
MHC Mutations & Prognosis

Troponin I




Troponin T

Troponin T Mutations & Survival
Troponin T disease with myocardial disarray and premature sudden death




Clinical Diagnosis
Genetic Diagnosis (Troponin T)
Myosin binding protein C


Hypertrophic Cardiomyopathy
Causes of Hypertrophic Cardiomyopathy (HCM)

Causes of Hypertrophic Cardiomyopathy (HCM)
“Refractory” symptoms
Causes of Left Ventricular Hypertrophy
 
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