Recognizing Hypertrophic Cardiomyopathy in Women: Addressing Misdiagnosis

Author: Stephen B. Heitner, M.D., Cytokinetics

Hypertrophic cardiomyopathy (HCM) is one of the most common heritable cardiac disorders yet presents a diagnostic challenge even for the most diligent providers.^1,2 Due to symptom overlap with more common conditions – such as mitral valve prolapse, coronary artery disease, and asthma – HCM is frequently misdiagnosed or overlooked.^3,4

Currently, an estimated 660,000 Americans are living with HCM, yet approximately half remain undiagnosed.⁵ Classic symptoms can include chest pain, fatigue, heart palpitations, dyspnea, dizziness, fainting, and heart murmurs, and can often be mistaken for other conditions, leading to delays in proper diagnosis and treatment.^1,6,7 As a result, many individuals may experience prolonged diagnostic journeys, sometimes spanning years and involving multiple healthcare providers before an accurate diagnosis is made.³

Gender Disparities in Cardiovascular Risk Assessment

Research suggests that gender disparities may be a contributing factor to HCM misdiagnosis.⁸ Cardiovascular disease can present differently in women than in men, yet many healthcare providers report feeling underprepared to assess these differences. 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 In another survey, 70% of physician trainees said they aren’t being educated enough, if at all, about gender-based medical concepts during postgraduate medical training.¹⁰

Beyond gaps in medical education, unconscious gender bias may also influence diagnostic decisions.¹⁰ Women experiencing symptoms such as chest pain or fatigue may have their concerns dismissed as anxiety or stress rather than being thoroughly evaluated for underlying cardiac conditions, including HCM.^3,4

Anjali Owens, M.D., associate professor and Medical Director, Center for Inherited Cardiac Disease, University of Pennsylvania, has witnessed this firsthand.

As an investigator and steering committee member of Cytokinetics’ clinical trials, and HCM Beyond the Heart educational resource contributor, she explains, “Women often tell me, ‘I’ve been dealing with these symptoms all this time and I can’t tell you how many doctors have made me feel like I was out of my mind, made it up, or it’s actually anxiety.’ Yet no one assessed these women for potential cardiac conditions like HCM.”

By increasing awareness of the unique challenges in diagnosing HCM, particularly in women, healthcare providers can play a crucial role in ensuring timely and accurate diagnoses, ultimately improving patient outcomes.

Understanding Hypertrophic Cardiomyopathy (HCM)
HCM is a progressive myocardial disorder defined by left ventricular hypertrophy in the absence of any other cause.^3,4,7,11 Approximately 70% of people with the condition have obstructive HCM (oHCM), while the rest of HCM cases are considered to be nonobstructive HCM.¹² A retrospective, observational study using data from 2009 to 2019 found that 60% of people were misdiagnosed prior to receiving a definitive diagnosis of oHCM.³

When a diagnosis and proper treatment are delayed, HCM can lead to arrhythmia and even be fatal.¹³ Patients with oHCM may exhibit compromised peak oxygen uptake (pVO₂), increasing susceptibility to severe disease progression that can lead to heart failure.^14,15

Early and accurate diagnosis of HCM is critical for enabling timely interventions.¹⁶ Providers may not recognize gender-specific differences in HCM presentation. Women typically have more symptoms, reduced cardiopulmonary exercise tolerance and lower survival rates than men.¹⁷

To ensure equitable care, patients presenting with potential HCM symptoms should undergo comprehensive evaluation and providers should be mindful of symptoms that might generally be dismissed or attributed to psychological factors. More cardiologists have incorporated questionnaires like the Kansas City Cardiomyopathy Questionnaire (KCCQ) into clinic visits to better gauge physical and emotional well-being. When issued prior to the start of the appointment, these patient-reported outcome questionnaires can help guide discussions about the patient's holistic health and even guide future treatment decisions.

Through open communication, shared decision making and adherence to HCM guidelines, we can empower women and their healthcare teams and help more patients on the path toward diagnosis and treatment.

Visit www.Cytokinetics.com to learn more about HCM.

References:

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