A difficult diagnostic journey1,2

Getting to a diagnosis of hypertrophic cardiomyopathy (HCM) can be a long and challenging process1,3

Allison,
Diagnosed with HCM in 2020
Actual consented patient.

Silhouette photo of Allison

Many symptoms of HCM are nonspecific, and may include1,4,5:

Chest pain icon

Chest Pain

Fatigue icon

Fatigue

Palpitations icon

Heart Palpitations

Heart murmur icon

Heart Murmur

Dyspnea icon

Dyspnea

Dizziness and fainting icon

Dizziness & Fainting

Edema icon

Edema

People with HCM may compensate for the physical difficulties caused by HCM and underreport symptoms6

Multiple studies showed that exercise restriction can lead to increased risk for coronary artery disease (CAD), depression, obesity, loss of autonomy and self-identity, and reduced educational and income potential.1,7-9

4 in 5 people icon

4 in 5 adults with HCM reported limitations in their physical activities due to their disease1*

In a web-based survey conducted in 2015 among 444 patients with HCM,* the time between first symptoms and HCM diagnosis ranged from1,10†:

Time between first symptoms and HCM diagnosis graphic

Navigating the Path to an Obstructive HCM Diagnosis

Watch a brief video of 3 HCM specialists sharing their perspectives on the challenges inherent in arriving at an HCM diagnosis.

Video Transcript

In a retrospective, observational study using healthcare claims data from 2009-2019 (n=2315/3888)2:

60%

of people experienced a misdiagnosis prior to receiving a definitive diagnosis of obstructive HCM (oHCM)2

4

misdiagnoses over 2 years prior to an oHCM diagnosis — on average for those who were misdiagnosed2

1 in 6

people with a misdiagnosis were treated for an incomplete or incorrect diagnosis2

Looking beyond the heart to detect HCM4

HCM can affect anyone regardless of age, gender, or ethnicity11

Triggers for HCM evaluation may include4:

  • Family history of HCM
  • Symptoms
  • Cardiac event
  • Heart murmur
  • Echocardiography or electrocardiogram (ECG) abnormalities

Obstruction may be present at rest or upon provocation using Valsalva maneuver, standing tests, or stress echocardiogram.4

Confirmation of diagnosis after initial echocardiogram results can be supported with4:

  • Cardiac magnetic resonance imaging (CMR)
  • ECG
  • Stress or Valsalva echocardiogram

While HCM genetic testing can help confirm diagnosis and identify at-risk family members, results are not always clinically actionable.4

HCM can often be overlooked, as many symptoms overlap with other conditions such as asthma, anxiety, mitral valve prolapse, and coronary artery disease (CAD).2,12

Next: Learn about peak oxygen consumption (pVO2) as one predictor of mortality in HCM

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*Interviews conducted in 2017 and 2018 among 27 people with HCM. These interviews were conducted as part of a conceptual model to better understand the symptoms and impacts of people with HCM. The HCM status of some participants (obstructive vs nonobstructive) was unconfirmed.1

†This web survey was designed to better understand the signs, symptoms and impacts of people with HCM. 58% reported having oHCM and 33% reported having nonobstructive HCM.1

References: 1. Zaiser E, Sehnert AJ, Duenas A, Saberi S, Brookes E, Reaney M. Patient experiences with hypertrophic cardiomyopathy: a conceptual model of symptoms and impacts on quality of life. J Patient Rep Outcomes. 2020;4(1):102. doi:10.1186/s41687-020-00269-8 2. Naidu SS, Sutton MB, Gao W, et al. Frequency and clinicoeconomic impact of delays to definitive diagnosis of obstructive hypertrophic cardiomyopathy in the United States. J Med Econ. 2023;26(1):682-690. doi:10.1080/13696998.2023.2208966 3. Bell-Davies F, Goyder C, Gale N, Hobbs FDR, Taylor CJ. The role of informal carers in the diagnostic process of heart failure: a secondary qualitative analysis. BMC Cardiovasc Disord. 2019;19(1):92. doi:10.1186/s12872-019-1075-6 4. Ommen SR, Ho CY, Asif IM, et al. 2024 AHA/ACC/AMSSM/HRS/PACES/SCMR guideline for the management of hypertrophic cardiomyopathy: a report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines. Circulation. 2024;149(23):e1239-e1311. doi:10.1161/cir.0000000000001250 5. Marian AJ, Braunwald E. Hypertrophic cardiomyopathy: genetics, pathogenesis, clinical manifestations, diagnosis, and therapy. Circ Res. 2017;121(7):749-770. doi:10.1161/CIRCRESAHA.117.311059 6. Bayones-Ruiz A, Muñoz-Franco FM, Ferrer V, et al. Cardiopulmonary exercise test in patients with hypertrophic cardiomyopathy: a systematic review and meta-analysis. J Clin Med. 2021;10(11):2312. doi:10.3390/jcm10112312 7. Martinez MW. Hypertrophic cardiomyopathy and exercise: mutually exclusive or beneficial? Clin Sports Med. 2022;41(3):473-484. doi:10.1016/j.csm.2022.02.011 8. Zytnick D, Heard D, Ahmad F, Cresci S, Owens AT, Shay CM. Exploring experiences of hypertrophic cardiomyopathy diagnosis, treatment, and impacts on quality of life among middle-aged and older adults: an interview study. Heart Lung. 2021;50(6):788-793. doi:10.1016/j.hrtlng.2021.06.004 9. Reineck E, Rolston B, Bragg-Gresham JL, et al. Physical activity and other health behaviors in adults with hypertrophic cardiomyopathy. Am J Cardiol. 2013;111(7):1034-1039. doi:10.1016/j.amjcard.2012.12.018 10. Zaiser E, Sehnert AJ, Duenas A, Saberi S, Brookes E, Reaney M. Patient experiences with hypertrophic cardiomyopathy: a conceptual model of symptoms and impacts on quality of life. J Patient Rep Outcomes. 2020;4(1)(suppl):102. https://jpro.springeropen.com/articles/10.1186/s41687-020-00269-8#Sec16 11. Maron BJ. Clinical course and management of hypertrophic cardiomyopathy. N Engl J Med. 2018;379:655-668. doi:10.1056/NEJMra1710575 12. Argulian E, Sherrid MV, Messerli FH. Misconceptions and facts about hypertrophic cardiomyopathy. Am J Med. 2016;129(2):148-152. doi:10.1016/j.amjmed.2015.07.035