McNally EM, et al. J Clin Invest, 2013
Cardiomyopathy
Hypertrophic Dilated
Autosomal Dominant > 50 genes
LDB3
McNally EM, et al. J Clin Invest, 2013
Hypertrophic Cardiomyopathy Myosin Myosin binding Protein C 75%
Cardiovascular Pathology (心血管病理)
Aims
1. Anatomy and physiology of the cardiovascular system
2. Cardiomyopathies 3. Molecular pathology for cardiomyopathy
Heart Index---Normal Heart
Heart rate Heart rhythm
Camels and bats represent the two extremes of the scale, with most other mammals falling somewhere in between.
Maron BJ, et al. JACC, 2012
Maron BJ, et al. JACC, 2012
Genetic Testing and Heart Disease
The power of HCM mutational analysis, albeit a more limited role than initially envisioned, lies most prominently in screening family members at risk for developing disease and excluding unaffected relatives, which is information not achievable otherwise. Genetic testing also allows expansion of the broad HCM disease spectrum and diagnosis of HCM phenocopies with different natural history and treatment options, but is not a reliable strategy for predicting prognosis.