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Diagnosis and Evaluation of Hypertrophic Cardiomyopathy: JACC State-of-the-Art Review

Barry J Maron1, Milind Y Desai2, Rick A Nishimura3

  • 1HCM Institute, Tufts Medical Center, Boston, Massachusetts, USA.

Journal of the American College of Cardiology
|January 28, 2022
PubMed

Insights

Hypertrophic cardiomyopathy (HCM) is a common inherited heart condition affecting many Americans. Early diagnosis via imaging and genetic testing is crucial for effective management and improved outcomes.

Area of Science:

  • Cardiology
  • Genetics
  • Medical Imaging

Background:

  • Hypertrophic cardiomyopathy (HCM) is a prevalent, inherited global heart disease with diverse genetic and phenotypic expressions.
  • Affecting all genders and races, its prevalence is estimated at 1:200-1:500, potentially impacting 750,000 Americans, yet many cases remain undiagnosed.
  • Clinicians often encounter limited aspects of the wide HCM spectrum, highlighting a need for broader awareness and diagnostic capabilities.

Purpose of the Study:

  • To emphasize the critical role of accurate diagnosis in managing hypertrophic cardiomyopathy.
  • To highlight the advancements in diagnostic tools and their impact on patient outcomes.
  • To underscore the importance of comprehensive evaluations for effective hypertrophic cardiomyopathy care.

Main Methods:

  • Utilizing echocardiography and cardiac magnetic resonance for reliable HCM diagnosis.
  • Implementing family screening with noninvasive imaging to identify at-risk relatives.
  • Employing genetic analysis to detect preclinical carriers of sarcomere gene mutations.

Main Results:

  • Effective management strategies have significantly improved clinical course, reducing mortality and morbidity.
  • Noninvasive imaging is key for diagnosing HCM phenotypes and identifying affected family members.
  • Genetic analysis can identify carriers before left ventricular hypertrophy develops, indicating disease transmission potential.

Conclusions:

  • Reliable diagnosis through echocardiography and cardiac magnetic resonance is essential for hypertrophic cardiomyopathy.
  • Family screening and genetic analysis are vital for comprehensive HCM management and risk stratification.
  • Thorough initial patient evaluations are crucial for accurate diagnosis, risk assessment, and differentiating HCM subtypes.

Keywords:
cardiac magnetic resonanceechocardiographyelectrocardiogramhypertrophic cardiomyopathyhypertrophy

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