The Genetic and Molecular Bases for Hypertrophic Cardiomyopathy: The role for calcium sensitization
Abstract Hypertrophic cardiomyopathy (HCM) affects millions of people around the world as one of the most common genetic heart disorders. In patients, it leads to cardiac ischemia, heart failure, dysfunction of other organ systems, and increased risk for sudden unexpected cardiac deaths. HCM can be...
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| Published in: | Journal of cardiothoracic and vascular anesthesia Vol. 32; no. 1; pp. 478 - 487 |
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| Abstract | Abstract Hypertrophic cardiomyopathy (HCM) affects millions of people around the world as one of the most common genetic heart disorders. In patients, it leads to cardiac ischemia, heart failure, dysfunction of other organ systems, and increased risk for sudden unexpected cardiac deaths. HCM can be caused by single point mutations, insertion or deletion mutations, or truncation of cardiac myofilament proteins. The molecular mechanism that leads to disease progression and presentation is still poorly understood, despite decades of investigations. However, recent research has made dramatic advances in our understanding of HCM disease development. Studies have shown that increased Ca2+ sensitivity is a universal feature in HCM. At the molecular level, increased cross-bridge force (or power) generation resulting in hypercontractility is the prominent feature. Thus, Ca2+ sensitization/hypercontractility is emerging as the primary stimulus for HCM disease development and phenotypic expression. Cross-bridge inhibition has been shown to halt HCM presentation, and myofilament desensitization appears to reduce lethal arrhythmias in animal models of HCM. These advances in basic research will continue to deepen our knowledge of HCM pathogenesis and are beginning to revolutionize the management of HCM. |
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| AbstractList | Abstract Hypertrophic cardiomyopathy (HCM) affects millions of people around the world as one of the most common genetic heart disorders. In patients, it leads to cardiac ischemia, heart failure, dysfunction of other organ systems, and increased risk for sudden unexpected cardiac deaths. HCM can be caused by single point mutations, insertion or deletion mutations, or truncation of cardiac myofilament proteins. The molecular mechanism that leads to disease progression and presentation is still poorly understood, despite decades of investigations. However, recent research has made dramatic advances in our understanding of HCM disease development. Studies have shown that increased Ca2+ sensitivity is a universal feature in HCM. At the molecular level, increased cross-bridge force (or power) generation resulting in hypercontractility is the prominent feature. Thus, Ca2+ sensitization/hypercontractility is emerging as the primary stimulus for HCM disease development and phenotypic expression. Cross-bridge inhibition has been shown to halt HCM presentation, and myofilament desensitization appears to reduce lethal arrhythmias in animal models of HCM. These advances in basic research will continue to deepen our knowledge of HCM pathogenesis and are beginning to revolutionize the management of HCM. Hypertrophic cardiomyopathy (HCM) affects millions of people around the world as one of the most common genetic heart disorders and leads to cardiac ischemia, heart failure, dysfunction of other organ systems, and increased risk for sudden unexpected cardiac deaths. HCM can be caused by single-point mutations, insertion or deletion mutations, or truncation of cardiac myofilament proteins. The molecular mechanism that leads to disease progression and presentation is still poorly understood, despite decades of investigations. However, recent research has made dramatic advances in the understanding of HCM disease development. Studies have shown that increased calcium sensitivity is a universal feature in HCM. At the molecular level, increased crossbridge force (or power) generation resulting in hypercontractility is the prominent feature. Thus, calcium sensitization/hypercontractility is emerging as the primary stimulus for HCM disease development and phenotypic expression. Cross-bridge inhibition has been shown to halt HCM presentation, and myofilament desensitization appears to reduce lethal arrhythmias in animal models of HCM. These advances in basic research will continue to deepen the knowledge of HCM pathogenesis and are beginning to revolutionize the management of HCM. |
| Author | Ren, Xianfeng, MD, PhD Gao, Wei Dong, MD, PhD Hensley, Nadia, MD Brady, Mary Beth, MD |
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| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/29203298$$D View this record in MEDLINE/PubMed |
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| Keywords | myofilaments molecular bases hypertrophic cardiomyopathy genetics calcium sensitization |
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| Snippet | Abstract Hypertrophic cardiomyopathy (HCM) affects millions of people around the world as one of the most common genetic heart disorders. In patients, it leads... Hypertrophic cardiomyopathy (HCM) affects millions of people around the world as one of the most common genetic heart disorders and leads to cardiac ischemia,... |
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| SubjectTerms | Anesthesia & Perioperative Care calcium sensitization Critical Care genetics hypertrophic cardiomyopathy molecular bases myofilaments |
| Title | The Genetic and Molecular Bases for Hypertrophic Cardiomyopathy: The role for calcium sensitization |
| URI | https://www.clinicalkey.es/playcontent/1-s2.0-S105307701730513X https://dx.doi.org/10.1053/j.jvca.2017.05.035 https://www.ncbi.nlm.nih.gov/pubmed/29203298 https://search.proquest.com/docview/1973024944 |
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