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Multimodality Imaging in Hypertrophic Cardiomyopathy
Daniel Escribano1, Elena Díaz-Peláez1, Victoria Delgado1
1Non-invasive Cardiovascular Imaging Section, Heart Institute, Hospital University Germans Trias i Pujol Badalona, Spain.
Insights
Hypertrophic cardiomyopathy (HCM) is a genetic heart condition affecting 0.2% of people. Accurate diagnosis and phenotyping using multimodality imaging are crucial for effective treatment and managing potential complications like heart failure.
Area of Science:
- Cardiology
- Genetics
- Medical Imaging
Background:
- Hypertrophic cardiomyopathy (HCM) is a genetic disorder affecting 0.2% of the population.
- It is characterized by increased left ventricular wall thickness not due to abnormal loading conditions.
- Mutations in sarcomere protein genes are the primary cause of HCM.
Purpose of the Study:
- To highlight the importance of accurate diagnosis and phenotyping in managing hypertrophic cardiomyopathy.
- To emphasize the role of multimodality imaging in HCM characterization.
- To differentiate HCM from other causes of left ventricular hypertrophy.
Main Methods:
- Review of genetic basis of HCM.
- Analysis of clinical presentation heterogeneity.
- Evaluation of multimodality imaging techniques for HCM diagnosis.
Main Results:
- HCM presents heterogeneously across all age groups.
- While many patients have normal life expectancy, complications like sudden cardiac death, heart failure, and atrial fibrillation (AF) can occur.
- Accurate diagnosis and phenotyping are essential for optimal therapeutic selection.
Conclusions:
- Multimodality imaging is vital for characterizing HCM.
- Differential diagnosis is key to appropriate therapy.
- Personalized management strategies are necessary for patients with HCM.
Abstract:
Hypertrophic cardiomyopathy (HCM) is a genetic disease present in 0.2% of the general population. It is defined by the presence of an increased left ventricular wall thickness (with or without right ventricular hypertrophy) or mass that is not solely explained by abnormal loading conditions. The vast majority of genes and mutations underlying HCM encode sarcomere proteins or sarcomere-associated proteins. The clinical presentation of the disease is highly heterogeneous and can present in all age groups. Most affected individuals will achieve a normal life expectancy without disability, but some patients with HCM can present significant complications, including sudden cardiac death, heart failure and AF. The selection of patients for the best therapeutic approach requires accurate diagnosis and phenotyping of the disease. In addition, differential diagnosis with other entities that can present with left ventricular hypertrophy is key to prescribing the most appropriate therapy. Multimodality imaging plays a key role in the characterisation of HCM.
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