Journal Editorial - Prime time for CMR imaging of arrhythmogenic substrate in hypertrophic cardiomyopathy
Oct 23, 2023
auto_awesome
Swiss researchers Christoph Grani & Katja Odening discuss the assessment of risk stratification in hypertrophic cardiomyopathy (HCM) and the influence of genetics. They explore the role of genetic testing and late gadolinium enhancement (LGE) in diagnosing and visualizing fibrosis in HCM. The podcast also explores different approaches to quantifying LGE, the potential of AI-based segmentation, and the use of artificial intelligence for risk stratification and better patient outcomes.
The incorporation of novel imaging risk markers, such as apical aneurysm, left ventricle ejection fraction below 50%, and significant late gadolinium enhancement (LGE), improved risk stratification for hypertrophic cardiomyopathy (HCM).
Integrating genetic testing into risk calculators and conducting large genetic studies are necessary to enhance risk stratification based on genetics in HCM.
Deep dives
Risk stratification for hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy (HCM) is a genetic disorder marked by disorganized architecture of myocardial fibers and a wide range of clinical features. The major concern with HCM is sudden cardiac death, which can occur even in asymptomatic individuals. Current risk evaluation methods for HCM have limitations, and no single predictive risk marker has been found. The 2020 and 2022 ESC guidelines incorporated novel imaging risk markers, such as apical aneurysm, left ventricle ejection fraction below 50%, and significant late gadolinium enhancement (LGE), which improved risk stratification. However, there are challenges in quantifying LGE and standardizing imaging protocols and methodologies. Further research, including large-scale genetic studies and the exploration of novel markers and artificial intelligence, is needed to enhance future risk stratification for HCM.
Genetics and prevalence of hypertrophic cardiomyopathy
HCM is the most prevalent genetic cardiomyopathy, with a prevalence of around 1 in 500. Pathogenic variants in sarcomeric genes, such as MYH7 and MYBPC3, account for a significant proportion of HCM cases. Genetic testing is recommended for index patients, and family screening is important due to the autosomal dominant inheritance. However, the variability in the phenotype and the association between specific gene variants and risk are still being explored. Integrating genetic testing into risk calculators and conducting large genetic studies are necessary to enhance risk stratification based on genetics in HCM.
The role of late gadolinium enhancement (LGE) in risk assessment
LGE, which visualizes scar tissue and fibrosis, is an important marker in HCM risk assessment. Absence of LGE is associated with a lower risk of sudden cardiac death. However, quantifying LGE is challenging, and different methodologies can yield different results. Uniform standards and guidelines for LGE assessment, including measurement techniques and imaging protocols, are needed. Future research should explore novel markers, such as T1 mapping and extracellular volume calculation, and artificial intelligence-based segmentation for more accurate risk assessment in HCM.