{"title":"肥厚型心肌病尚未满足的需求和未来发展方向。","authors":"Simrat Kaur, Milind Desai","doi":"10.1016/j.pcad.2023.08.001","DOIUrl":null,"url":null,"abstract":"<div><p><span><span>Hypertrophic cardiomyopathy (HCM) is a highly treatable monogenetic disorder affecting nearly 0.2% of the population. The high burden of this disease demands suitable measures for early diagnosis and preventing as well as tackling misdiagnosis. While conventionally available </span>therapies have been efficacious in reducing symptoms, they have not been able to change the natural history of the disease. The landscape of medical treatment is rapidly changing with advent of novel pharmacotherapies such as </span>cardiac myosin<span> inhibitors. Ongoing investigations in gene editing have demonstrated benefits in correcting underlying genetic mutations and this is where the future of treatment lies. Contemporary procedural techniques as alternatives to available septal reduction therapies independent of coronary vascular anatomy are also emerging. This review details the recent developments, unmet needs and future directions in diagnosis, medical and invasive treatment of HCM.</span></p></div>","PeriodicalId":21156,"journal":{"name":"Progress in cardiovascular diseases","volume":null,"pages":null},"PeriodicalIF":5.6000,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Unmet needs and future directions in hypertrophic cardiomyopathy\",\"authors\":\"Simrat Kaur, Milind Desai\",\"doi\":\"10.1016/j.pcad.2023.08.001\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p><span><span>Hypertrophic cardiomyopathy (HCM) is a highly treatable monogenetic disorder affecting nearly 0.2% of the population. The high burden of this disease demands suitable measures for early diagnosis and preventing as well as tackling misdiagnosis. While conventionally available </span>therapies have been efficacious in reducing symptoms, they have not been able to change the natural history of the disease. The landscape of medical treatment is rapidly changing with advent of novel pharmacotherapies such as </span>cardiac myosin<span> inhibitors. Ongoing investigations in gene editing have demonstrated benefits in correcting underlying genetic mutations and this is where the future of treatment lies. Contemporary procedural techniques as alternatives to available septal reduction therapies independent of coronary vascular anatomy are also emerging. This review details the recent developments, unmet needs and future directions in diagnosis, medical and invasive treatment of HCM.</span></p></div>\",\"PeriodicalId\":21156,\"journal\":{\"name\":\"Progress in cardiovascular diseases\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":5.6000,\"publicationDate\":\"2023-09-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Progress in cardiovascular diseases\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S0033062023000762\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"CARDIAC & CARDIOVASCULAR SYSTEMS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Progress in cardiovascular diseases","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0033062023000762","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"CARDIAC & CARDIOVASCULAR SYSTEMS","Score":null,"Total":0}
Unmet needs and future directions in hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy (HCM) is a highly treatable monogenetic disorder affecting nearly 0.2% of the population. The high burden of this disease demands suitable measures for early diagnosis and preventing as well as tackling misdiagnosis. While conventionally available therapies have been efficacious in reducing symptoms, they have not been able to change the natural history of the disease. The landscape of medical treatment is rapidly changing with advent of novel pharmacotherapies such as cardiac myosin inhibitors. Ongoing investigations in gene editing have demonstrated benefits in correcting underlying genetic mutations and this is where the future of treatment lies. Contemporary procedural techniques as alternatives to available septal reduction therapies independent of coronary vascular anatomy are also emerging. This review details the recent developments, unmet needs and future directions in diagnosis, medical and invasive treatment of HCM.
期刊介绍:
Progress in Cardiovascular Diseases provides comprehensive coverage of a single topic related to heart and circulatory disorders in each issue. Some issues include special articles, definitive reviews that capture the state of the art in the management of particular clinical problems in cardiology.