Although hypertrophic cardiomyopathy (HCM) is an autosomal dominant disease caused by mutations predominantly in sarcomere genes, there are many mechanisms and pathways involved in HCM that leads to cardiomyocyte hypertrophy and myofibrillar disarray. The most important shared mechanisms are those involved in ATP homeostasis, MAPK/ERK, and calcineurin/NFAT signaling. What are the common factors and how are these pathways inter-related, and what causes the heterogenous phenotype in HCM among patients?
Dear Linda Koshy
there is no simple/direct answer to the question you are asking. HCM is multifactorial (as you already mentioned)which then leads to the heterogeneous phenotype among HCM patients.
i would recommend to read though these reviews to start with :
Article Diagnosis and Evaluation of Hypertrophic Cardiomyopathy
Article Hypertrophic Cardiomyopathy: Genetics, Pathogenesis, Clinica...
for the link between metabolic changes and signalling events in the context of hypertrophy this is another in-depth review-
https://www.nature.com/articles/nrm1983
Article Energetic drain driving hypertrophic cardiomyopathy
hope this will give you more insights.
Best wishes
Shambhabi
Hypertrophic cardiomyopathy (HCM) is the most common inherited heart disease and defined by unexplained isolated progressive myocardial hypertrophy, systolic and diastolic ventricular dysfunction, arrhythmias, sudden cardiac death and histopathologic changes, such as myocyte disarray and myocardial fibrosis. Mutations in genes encoding for proteins of the contractile apparatus of the cardiomyocyte, such as β-myosin heavy chain and myosin binding protein C, have been identified as cause of the disease. Disease is caused by altered biophysical properties of the cardiomyocyte, disturbed calcium handling, and abnormal cellular metabolism. Mutations in sarcomere genes can also activate other signaling pathways via transcriptional activation and can influence non-cardiac cells, such as fibroblasts. Additional environmental, genetic and epigenetic factors result in heterogeneous disease expression
Hypertrophic cardiomyopathy is genetic disorder characterized by mutation in sarcomere gene. Typically characterised by hypertrophied ventricle unexplained by secondary causes , with non dilated LV with Preserved LV systolic function. Typically involve hypertrophy of Basal interventricular septum
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