Role of Imaging in the Diagnosis, Evaluation, and Management of Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is increasingly recognized and may benefit from the recent approval of new, targeted medical therapy. Successful management of HCM is dependent on early and accurate diagnosis. The lack of a definitive diagnostic test, the wide variation in phenotype and the commonness of phenocopy conditions, and the presence of normal or hyperdynamic left ventricular function in most patients makes HCM a condition that is highly dependent on imaging for all aspects of management including, diagnosis, classification, predicting risk of complications, detecting complications, identifying risk for ventricular arrhythmias, evaluating choice of therapy and monitoring therapy, intraprocedural guidance, and screening family members. Although echocardiographic imaging remains the mainstay in the diagnosis and subsequent management of HCM, this disease clearly requires multimethod imaging for various aspects of optimal patient care. Advances in echocardiography hardware and techniques, development and refinement of imaging with computed tomography, magnetic resonance, and nuclear scanning, and the emergence of very focused assessments such as diastology and fibrosis imaging have all advanced the diagnosis and management of HCM. In this review, we discuss the relative utility and evidence support for these imaging approaches to contribute to improve patient outcomes. Hypertrophic cardiomyopathy (HCM) is increasingly recognized and may benefit from the recent approval of new, targeted medical therapy. Successful management of HCM is dependent on early and accurate diagnosis. The lack of a definitive diagnostic test, the wide variation in phenotype and the commonness of phenocopy conditions, and the presence of normal or hyperdynamic left ventricular function in most patients makes HCM a condition that is highly dependent on imaging for all aspects of management including, diagnosis, classification, predicting risk of complications, detecting complications, identifying risk for ventricular arrhythmias, evaluating choice of therapy and monitoring therapy, intraprocedural guidance, and screening family members. Although echocardiographic imaging remains the mainstay in the diagnosis and subsequent management of HCM, this disease clearly requires multimethod imaging for various aspects of optimal patient care. Advances in echocardiography hardware and techniques, development and refinement of imaging with computed tomography, magnetic resonance, and nuclear scanning, and the emergence of very focused assessments such as diastology and fibrosis imaging have all advanced the diagnosis and management of HCM. In this review, we discuss the relative utility and evidence support for these imaging approaches to contribute to improve patient outcomes. The lack of a diagnostic test, the wide variation in phenotype, and the presence of normal or hyperdynamic left ventricular function in most patients make hypertrophic cardiomyopathy (HCM) a condition that is highly dependent on imaging for all aspects of management, including diagnosis, classification, predicting risk of complications, detecting complications, identifying risk for ventricular arrhythmias, evaluating choice of therapy and monitoring therapy, intraprocedural guidance, and screening family members (Figure 1). Although echocardiography remains the mainstay in the diagnosis and management of HCM, this disease clearly requires multimethod imaging for various aspects of optimal patient care.1Maron BJ Maron MS The Remarkable 50 years of imaging in HCM and how it has changed diagnosis and management: from M-mode echocardiography to CMR.JACC Cardiovasc Imaging. 2016; 9: 858-872Google Scholar Echocardiography remains the principal mode of imaging in HCM and is often the first method by which a diagnosis of HCM is made.2Mitchell CC Frye C Jankowski M Symanski J Lester SJ Woo A Gilliland Y Dragulescu A Abraham T Desai M Martinez MW Nagueh SF Phelan D A practical approach to echocardiographic imaging in patients with hypertrophic cardiomyopathy.J Am Soc Echocardiogr. 2023; 36: 913-932Google Scholar, 3Nagueh SF Phelan D Abraham T Armour A Desai MY Dragulescu A Gilliland Y Lester SJ Maldonado Y Mohiddin S Nieman K Sperry BW Woo A Recommendations for multimodality cardiovascular imaging of patients with hypertrophic cardiomyopathy: an update from the American Society of Echocardiography, in collaboration with the American Society of Nuclear Cardiology, the Society for Cardiovascular Magnetic Resonance, and the Society of Cardiovascular Computed Tomography.J Am Soc Echocardiogr. 2022; 35: 533-569Google Scholar, 4Ommen SR Mital S Burke MA Day SM Deswal A Elliott P Evanovich LL Hung J Joglar JA Kantor P Kimmelstiel C Kittleson M Link MS Maron MS Martinez MW Miyake CY Schaff HV Semsarian C Sorajja P 2020 AHA/ACC guideline for the diagnosis and treatment of patients with hypertrophic cardiomyopathy: executive summary: a report of the American College of Cardiology/American Heart Association joint committee on clinical practice guidelines.Circulation. 2020; 142: e533-e557Google Scholar The 2020 HCM guidelines indicate that the diagnosis of HCM is based on a ventricular wall thickness ≥15 mm (≥13 mm if there is family history or presence of a causative mutation) in the absence of another cardiac, systemic, or metabolic disease capable of producing the magnitude of hypertrophy evident in a given patient.4Ommen SR Mital S Burke MA Day SM Deswal A Elliott P Evanovich LL Hung J Joglar JA Kantor P Kimmelstiel C Kittleson M Link MS Maron MS Martinez MW Miyake CY Schaff HV Semsarian C Sorajja P 2020 AHA/ACC guideline for the diagnosis and treatment of patients with hypertrophic cardiomyopathy: executive summary: a report of the American College of Cardiology/American Heart Association joint committee on clinical practice guidelines.Circulation. 2020; 142: e533-e557Google Scholar The other key features of HCM are systolic anterior motion (SAM) of the mitral valve and resultant elevated left ventricular outflow tract (LVOT) gradients3Nagueh SF Phelan D Abraham T Armour A Desai MY Dragulescu A Gilliland Y Lester SJ Maldonado Y Mohiddin S Nieman K Sperry BW Woo A Recommendations for multimodality cardiovascular imaging of patients with hypertrophic cardiomyopathy: an update from the American Society of Echocardiography, in collaboration with the American Society of Nuclear Cardiology, the Society for Cardiovascular Magnetic Resonance, and the Society of Cardiovascular Computed Tomography.J Am Soc Echocardiogr. 2022; 35: 533-569Google Scholar, 4Ommen SR Mital S Burke MA Day SM Deswal A Elliott P Evanovich LL Hung J Joglar JA Kantor P Kimmelstiel C Kittleson M Link MS Maron MS Martinez MW Miyake CY Schaff HV Semsarian C Sorajja P 2020 AHA/ACC guideline for the diagnosis and treatment of patients with hypertrophic cardiomyopathy: executive summary: a report of the American College of Cardiology/American Heart Association joint committee on clinical practice guidelines.Circulation. 2020; 142: e533-e557Google Scholar, 5Shah PM Gramiak R Kramer DH Ultrasound localization of left ventricular outflow obstruction in hypertrophic obstructive cardiomyopathy.Circulation. 1969; 40: 3-11Google Scholar (Figure 2). M-mode echocardiography provides an “ice pick” sectional view of the heart at high frame rates.6Popp RL Harrison DC Ultrasound in the diagnosis and evaluation of therapy of idiopathic hypertrophic subaortic stenosis.Circulation. 1969; 40: 905-914Google Scholar,7Tajik AJ Giuliani ER Echocardiographic observations in idiopathic hypertrophic subaortic stenosis.Mayo Clin Proc. 1974; 49: 89-97Google Scholar In 1969, Dr. Pravin Shah demonstrated the phenomenon of SAM, followed a few years later by the demonstration of asymmetric septal hypertrophy by M-mode echocardiography, initially by Abbasi in 1972 and shortly thereafter by Henry in 1973.8Abbasi AS MacAlpin RN Eber LM Pearce ML Echocardiographic diagnosis of idiopathic hypertrophic cardiomyopathy without outflow obstruction.Circulation. 1972; 46: 897-904Google Scholar,9Henry WL Clark CE Epstein SE Asymmetric septal hypertrophy. Echocardiographic identification of the pathognomonic anatomic abnormality of IHSS.Circulation. 1973; 47: 225-233Google Scholar Thus, M-mode echocardiography enabled the first noninvasive diagnosis of HCM. 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