For 26-year-old graduate student rachel Freedman, everyday tasks felt like monumental challenges. Simple activities such as climbing subway stairs, carrying groceries, or even showering left her breathless. On hikes with friends, a crushing pressure settled on her chest, making it feel like a “gorilla” was weighing her down. Rachel attributed this debilitating fatigue to needing to lose weight, increasing her exercise in an attempt to regain her energy. However, her exhaustion wasn’t just tiredness; it was a warning sign of a serious, hidden health crisis.
The Alarming Reality Behind Common symptoms
Fatigue is a common complaint, often dismissed as a byproduct of a busy lifestyle or a lack of sleep. Yet, Rachel’s experience serves as a stark reminder that persistent, unexplained fatigue can sometimes mask life-threatening conditions. Despite her young age, Rachel’s stamina was closer to that of someone decades older. Her struggle during physical activity was extreme, characterized by breathlessness and chest discomfort.
She continued believing her symptoms were related to weight until an unrelated hospital visit in May 2019 led to a crucial discovery. An electrocardiogram (EKG), a standard test measuring the heart‘s electrical activity, revealed an abnormal heart rhythm. While doctors initially suggested it was likely minor, her mother’s insistence prompted further investigation.
Uncovering a Genetic Heart Condition
Rachel was referred to cardiologists at NYU Langone Health. There, a specialized ultrasound of the heart, known as an echocardiogram, provided a clearer picture. The results were shocking: Rachel had obstructive hypertrophic cardiomyopathy (HCM).
HCM is a genetic condition affecting roughly one in 500 people. It causes the walls of the heart muscle, particularly the septum dividing the lower chambers, to thicken abnormally over time. This thickening can obstruct the flow of blood from the heart’s main pumping chamber, forcing the heart to work harder to circulate blood throughout the body. This strain can lead to erratic heartbeats and, in severe cases, cardiac arrest.
What makes HCM particularly dangerous is its often silent nature. Many individuals have no symptoms until they experience heart failure or sudden cardiac arrest. It is, tragically, a leading cause of sudden cardiac death in young people. Concerns about rising heart issues among younger Americans have been amplified by recent research, including studies suggesting an increase in heart attack deaths in the US following the Covid pandemic, with many occurring at home where symptoms may have been missed.
Severe Diagnosis at a Young Age
Rachel’s condition was already advanced by the time it was diagnosed at age 26. Doctors found her heart muscle was more than 30 millimeters thick – three times the thickness of an average healthy person’s heart wall. This significant thickening crowded her heart’s main pumping chamber, severely impeding its function.
Her cardiologist, Dr. Daniele Massera, confirmed the severity. “She could only walk six minutes on the treadmill. At 26, you’d expect much more,” Dr. Massera noted. Despite trying medical therapy, Rachel continued to experience fainting spells, a critical indicator of high risk with an HCM diagnosis. The condition was significantly limiting her daily life, preventing even simple activities she once took for granted.
Navigating Treatment Options
Following her diagnosis, Rachel began a multifaceted treatment plan. This included medications like beta blockers to slow her heart rate, blood thinners, and statins to help relax the heart and manage cholesterol levels.
Just three months later, doctors implanted a defibrillator in her chest. This device is designed to automatically detect life-threatening irregular heart rhythms and deliver an electrical shock to restore a normal heartbeat, significantly reducing the risk of sudden cardiac death.
Despite these interventions and losing 60 pounds to reduce stress on her heart, Rachel’s severe symptoms persisted. The limitations on her physical abilities remained, impacting her quality of life. Facing the ongoing risks, particularly the fainting spells, surgery became a necessary consideration, although Rachel initially hoped to avoid it.
The Path to Recovery Through Surgery
In August 2020, about 15 months after her diagnosis, Rachel underwent a septal myectomy. This open-heart surgical procedure involves carefully removing a portion of the thickened heart muscle tissue. The goal is to relieve the obstruction to blood flow caused by the thickened septum.
The surgery, which typically takes a few hours, was a crucial turning point in Rachel’s journey. Following the procedure, she participated in four months of cardiac rehabilitation. This structured program included guided exercise, strength training, and education on maintaining a heart-healthy lifestyle through diet and other modifications.
Life Transformed
Today, nearly five years post-surgery, Rachel’s life has dramatically changed. The debilitating breathlessness and chest pain are gone. She can now enjoy hikes with friends, keeping pace without feeling crushed by discomfort. Walking up stairs is no longer an ordeal. Simple pleasures, like walking across the Brooklyn Bridge instead of needing the subway, are now easily achievable.
Her recovery extended beyond physical health. In 2022, Rachel got married and is now pursuing a master’s degree, aspiring to become a high school guidance counselor. Looking back, she expressed profound gratitude to her medical team, stating, “Not only did you save my life, you changed my life.”
Rachel’s story underscores the critical importance of listening to your body and seeking persistent medical attention when symptoms don’t resolve, even if initially dismissed. While fatigue is common, its combination with other signs like breathlessness or chest pressure, especially in young individuals, warrants thorough investigation. Her journey from severe limitation to a vibrant, active life highlights the power of accurate diagnosis and effective treatment, even for conditions as serious and hidden as Hypertrophic Cardiomyopathy.
Frequently Asked Questions
What is Hypertrophic Cardiomyopathy (HCM) and why is it often missed?
Hypertrophic Cardiomyopathy (HCM) is a genetic heart condition causing the heart muscle, particularly the septum, to thicken abnormally. This thickening can block blood flow, forcing the heart to work harder and increasing the risk of dangerous heart rhythms and sudden cardiac arrest. It’s often missed because symptoms can be vague or absent, or they may mimic common issues like everyday fatigue, breathlessness, or chest discomfort during exertion, leading individuals and sometimes healthcare providers to initially dismiss them.
Where can someone get tested for HCM if they suspect symptoms?
If you suspect symptoms that could indicate a heart condition like HCM, the first step is to consult your doctor. They will likely perform a physical examination and may order initial tests like an electrocardiogram (EKG) to check the heart’s electrical activity. If abnormalities are found or suspicion remains high, you would typically be referred to a cardiologist, a heart specialist. Cardiologists can perform specific tests like an echocardiogram (an ultrasound of the heart) which is key to visualizing heart muscle thickness and blood flow issues associated with HCM.
What are the treatment options for HCM, and when is surgery considered?
Treatment for HCM varies depending on symptom severity and risk factors. Initial treatment often involves medications like beta blockers to slow the heart rate and reduce strain, and sometimes blood thinners or statins. For individuals at high risk of sudden cardiac arrest, often due to fainting spells or certain EKG findings, an implantable defibrillator may be recommended. Surgery, such as a septal myectomy to remove excess muscle, is typically considered when medication and other less invasive options fail to significantly relieve severe symptoms and obstruction to blood flow, or when high-risk factors like fainting are present.
