ARRS 2022 Abstracts


E1240. Hypertrophic Cardiomyopathy: From the Expected Phenotypes to Less Known Variants
  1. Jonathan Revels; University of New Mexico
  2. Sean Connor; University of New Mexico
  3. John Grizzard; VCU Health Systems
  4. Sarah Bastawrous; University of Washington
  5. Shaimaa Fadl; VCU Health Systems
Hypertrophic cardiomyopathy (HCM) is a disorder with significant variability in its underlying genetic etiology, affected population, clinical presentation, patient outcome, and cardiac morphology. Epidemiologically, the prevalence of HCM is approximately 1 in 500 individuals, affecting nearly 20 million people worldwide, and yet only 10% of these cases are identified. HCM is known to be associated with at least 20 genes that are affected by more than 2000 different mutations causing alterations in various sarcomere-associated proteins. The most commonly affected genes in HCM are beta-myosin heavy chain (MYH7) and myosin binding protein C (MYBPC3), accounting for nearly half of all HCM cases. The morphological features of HCM run the gamut, which can make establishing the diagnosis by imaging difficult because not all forms demonstrate “characteristic” myocardial hypertrophy. Herein we discuss the genetics and sarcomere proteins involved in HCM subtypes, various HCM phenotypes and findings, as well as the role of MRI in assessing a patient’s risk for sudden cardiac death (SCD).

Educational Goals / Teaching Points
After completing this educational exhibit, the learner will have an improved understanding of the pathology of HCM, various subtypes of hypertrophic and non-hypertrophic HCM, and the radiologist's role in evaluating HCM including SCD risk assessment.

Key Anatomic/Physiologic Issues and Imaging Findings/Techniques
This educational exhibit will provide learners with an overview of the various HCM subtypes, risks for major adverse cardiovascular events (MACE), and the role of cardiac MRI in the assessment of SCD.

HCM is genetic mutation associated pathology that afflicts an estimated 20 million individuals worldwide, and yet only 10% of cases are identified. The reasoning behind such a low number of identified cases may be that many patients living normal lives. When assessing patients for possible HCM, radiologists should be aware of both the more commonly known variants of left ventricular myocardial hypertrophy and the less commonly considered non-hypertrophic forms of HCM that may go unnoticed. Lastly, radiologists should be attuned to the cardiac MRI features that increase a patient's risk for SCD.