As a cardiology nurse practitioner, I witness the typically long and overwhelming diagnostic journey for women living with hypertrophic cardiomyopathy (HCM). Nurses and nurse practitioners often have the unique privilege of spending a significant amount of time communicating with patients and families as they undergo several appointments and tests. They ensure there is a patient-centered, goal-oriented approach to care. In many cases, nursing care teams become the foundation of these women’s quest towards a better quality of life.

About half of the 660,000 people in the United States with HCM, one of the most common heritable cardiac disorders, remain undiagnosed.1 A study revealed that 60% of Americans who receive an HCM diagnosis were initially misdiagnosed, and the average patient receives four misdiagnoses over two years.2

How can this be? For starters, HCM symptoms are nonspecific and can include fatigue, chest pain, dyspnea, dizziness, fainting, and low exercise tolerance.3-5 These symptoms often overlap with common conditions like asthma, anxiety, mitral valve prolapse, and coronary artery disease – a recipe for diagnostic difficulty.2, 6

For women, receiving a timely HCM diagnosis can be impacted by another factor: unconscious gender bias. Women are more likely to have symptoms of cardiovascular disease underestimated or dismissed by medical professionals. This can lead to undertreatment and delayed care.7

I’ve had numerous women under my care express a weary sense of relief and validation after finally receiving their HCM diagnosis, even as they learn about the challenging road ahead. Some share stories of having their symptoms minimized, dismissed or characterized as an “emotional response” or anxiety by multiple doctors over many years.

There are differences in how HCM presents in men and women. According to a Mayo Clinic study

, women with HCM tend to present at an older age and with more symptoms, worse cardiopulmonary exercise tolerance and different hemodynamics. The study also found women had lower survival rates.8 In a nationwide survey, only 22% of primary care doctors and 42% of cardiologists said they feel extremely well prepared to assess cardiovascular risks in women.9

Another factor is that they may not realize that shortness of breath while tying their shoes or walking up a single flight of stairs is abnormal. How can they tell us something is wrong if they don’t know what’s right?

HCM Disease Burden

HCM is defined by left ventricular hypertrophy in the absence of any other cause.2,4,6 Approximately 70% of patients have obstructive HCM (oHCM), where thickened heart muscle blocks or reduces blood flow from the left ventricle to the aorta.10 Patients with oHCM may exhibit compromised peak oxygen uptake (pVO2), increasing susceptibility to severe disease progression that can lead to heart failure.11,12

People living with HCM are sometimes unable to participate in everyday activities. They often have low exercise tolerance and may experience difficulty with routine activities such as going grocery shopping or mowing the lawn.11,13-15 The burden of managing this condition can also take a toll on emotional well-being. Nearly eight in 10 people with HCM report feeling anxious or depressed. This can be due to a variety of factors, including day-to-day burden of symptoms and disease, or feeling worried or guilty that their inherited condition may be passed on to their children and grandchildren.3

All patients presenting with symptoms of HCM deserve thorough evaluation and we can play a vital role in recognizing HCM symptoms in our patients. Delayed diagnosis and disease progression can also contribute to psychological distress, making timely recognition and care even more critical.4 Staying informed about the latest HCM clinical practice guidelines can help, especially as they emphasize the link between shared decision-making and better health outcomes.

Nurses and nurse practitioners play an integral role in HCM patient care by actively listening to patients and facilitating collaborative care within cardiology teams, which helps to improve timely diagnosis and outcomes for HCM.

Katie Halbmaier, DNP, ARNP, FNP-BC, is a nurse practitioner at the University of Iowa Hospitals and Clinics and lecturer at the University of Iowa College of Nursing. She practices in outpatient general cardiology, heart failure and cardiovascular genetics clinics. Over the past five years, she has helped grow and manage a Hypertrophic Cardiomyopathy Association (HCMA) Center of Excellence. She also teaches genetics to undergraduate and graduate nursing students. One of her goals is to improve access to and knowledge of diagnosis and guideline-directed care in patients with nonischemic cardiomyopathies, including HCM.

References:

Data on Symphony Health 2016-2021 Patient Claims Data. South San Francisco, CA: Cytokinetics, Inc; 2021.
Naidu SS, Sutton MB, Gao W, et 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.
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 J Patient Rep Outcomes. 2020;4(1):102. doi:10.1186/s41687-020-00269- 8.
Ommen SR, Ho CY, Asif IM, et 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.
Marian AJ, Braunwald Hypertrophic cardiomyopathy: genetics, pathogenesis, clinical manifestations, diagnosis, and therapy. Circ Res. 2017;121(7):749-770. doi:10.1161/CIRCRESAHA.117.311059.
Argulian E, Sherrid MV, Messerli FH. Misconceptions and facts about hypertrophic cardiomyopathy. Am J 2016;129(2):148-152. doi:10.1016/j.amjmed.2015.07.035.
Huebschmann A, Regensteiner J. Women are at a higher risk of dying from heart disease—in part because doctors don’t take major sex and gender differences into account. J Health Econ Outcomes Res. Published online. Accessed March 14, 2025. https://jheor.org/post/2779-women-are-at-a-higher-risk-of-dying-from-heart-disease-in- part-because-doctors-don-t-take-major-sex-and-gender-differences-into-accoun.
Geske JB, Olivotto I, Woo A, et al. Women with hypertrophic cardiomyopathy have worse Eur Heart J. 2017;38(46):3434-3440. doi:10.1093/eurheartj/ehx527.
Wenger, NL, Lloyd-Jones DM, Elkind MSV, et al. Call to action for cardiovascular disease in women: epidemiology, awareness, access, and delivery of equitable health care: a presidential advisory from the American Heart Circ. 2022;145(23). doi.org/10.1161/CIR.0000000000001071.
Lu DY, Pozios I, Haileselassie B, et Clinical outcomes in patients with nonobstructive, labile, and obstructive hypertrophic cardiomyopathy. J Am Heart Assoc. 2018;7(5). doi:10.1161/JAHA.117.006657.
Coats CJ, Rantell K, Bartnik A, et Cardiopulmonary exercise testing and prognosis in hypertrophic cardiomyopathy. Circ Heart Fail. 2015;8(6):1022-1031. doi:10.1161/CIRCHEARTFAILURE.114.002248.
Tompkins JDV, Day SM, Jacoby DL, et Peak oxygen consumption is an independent predictor of survival and outcomes in obstructive and non-obstructive hypertrophic cardiomyopathy (HCM) patients: results from the international sarcomeric human cardiomyopathies registry (SHaRe). Circulation. 2018;138(suppl 1): Abstract 14251.
Jette M, Sidney K, Blümchen G. Metabolic equivalents (METS) in exercise testing, exercise prescription, and evaluation of functional capacity. Clin Cardiol. 1990;13(8):555- 565. doi:10.1002/clc.4960130809.
Morey MC, Pieper CF, Cornoni-Huntley J. Is there a threshold between peak oxygen uptake and self-reported physical functioning in older adults? Med Sci Sports Exerc. 1998;30(8):1223-1229.
Herrmann SD, Willis EA, Ainsworth BE, et al. 2024 Adult Compendium of Physical Activities: a third update of the energy costs of human activities. J Sport Health Sci. 2024;13(1):6-12. doi:10.1016/j.jshs.2023.10.010.

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