Hypertrophic Cardiomyopathy

被引:5
作者
Dungu, Jason N. [1 ,2 ]
Hardy-Wallace, Amy [1 ]
Dimarco, Anthony D. [1 ]
Savage, Henry O. [1 ,2 ]
机构
[1] Essex Cardiothorac Ctr, Basildon SS16 5NL, Essex, England
[2] Anglia Ruskin Univ, Chelmsford, England
关键词
Hypertrophic cardiomyopathy; Echocardiography; Cardiovascular magnetic resonance imaging; Genetics; Gene therapy; MAGNETIC-RESONANCE; FABRY DISEASE; DIAGNOSIS; RHYTHM; TRIAL; HCM;
D O I
10.1007/s11897-024-00654-0
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Purpose of ReviewHypertrophic cardiomyopathy (HCM) is a common inherited cardiac condition with potential for severe complications including sudden cardiac death. Early diagnosis allows appropriate risk stratification and prompt intervention to minimise the potential for adverse outcomes. The implications of poorly coordinated screening are significant, either missing relatives at high-risk or burdening low-risk individuals with a diagnosis associated with reduced life expectancy. We aim to guide clinicians through the diagnostic pathway through to novel treatment options. Several conditions mimic the condition, and we discuss the phenocopies and how to differentiate from HCM.Recent FindingsWe summarise the latest developments informing clinical decision making in the modern era of myosin inhibitors and future gene editing therapies. Early identification will enable prompt referral to specialist centres.SummaryA diagnostic flowchart is included, to guide the general cardiology and heart failure clinician in important decision making regarding the care of the HCM patient and importantly their relatives at risk. We have highlighted the importance of screening because genotype-positive/phenotype-negative patients are likely to have the most to gain from novel therapies.
引用
收藏
页码:428 / 438
页数:11
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