A thick heart? When my patient’s perfect lifestyle wasn’t the whole story

The patient began experiencing breathlessness while climbing stairs, occasional chest discomfort, dizziness, and a racing heartbeat after mild physical activity. . (Photo: Getty Images/Thinkstock)

Tanvee, a 36-year-old woman, had always considered herself playing by the book. She exercised regularly, enjoyed yoga and strength training at the gym and maintained a balanced diet. Over the past year, however, she began experiencing breathlessness while climbing stairs, occasional chest discomfort, dizziness, and a racing heartbeat after mild physical activity. She initially dismissed these symptoms as stress, lack of fitness, or fatigue from balancing work and family responsibilities. But when she briefly lost consciousness after walking uphill and sought medical attention, the diagnosis surprised her.

Imaging tests revealed she had obstructive hypertrophic cardiomyopathy (oHCM), an inherited condition in which the heart muscle becomes abnormally thick, making it harder for blood to leave the heart. Although the diagnosis initially caused anxiety, she was reassured that with appropriate treatment, regular follow-up, and lifestyle guidance, she could continue to lead an active and fulfilling life.

Her story is not unique. OHCM remains one of the most misunderstood cardiac conditions, despite being the most common inherited condition. Misconceptions around the disease can lead to fear, delayed diagnosis, and hesitation in seeking appropriate medical care. While oHCM has historically been associated with sudden cardiac death, particularly in young athletes, advances in diagnosis and treatment have significantly transformed its management. Today, with early diagnosis and appropriate treatment, many patients can lead active and fulfilling lives.

Understanding oHCM

Obstructive hypertrophic cardiomyopathy is a form of hypertrophic cardiomyopathy (HCM) — an inherited heart muscle disorder caused by genetic mutations that affect the structure and function of the heart muscle. These changes cause the heart muscle to become abnormally thick, most commonly affecting the wall, or septum, between the two lower chambers of the heart. In nearly two-thirds of patients with HCM, the thickened heart muscle can block the flow of blood leaving the heart, a condition known as obstructive HCM (oHCM). As a result, the heart must work harder to pump blood throughout the body, often leading to breathlessness, chest pain, fatigue, palpitations, dizziness, or fainting during physical activity.

Myth 1: A diagnosis of oHCM inevitably leads to sudden death.

Fact: While oHCM was once primarily recognised for its association with sudden cardiac death, advances in medical science have significantly improved patient outcomes. With timely diagnosis, appropriate medical care, and ongoing monitoring, many people with oHCM can experience a good quality of life and a near-normal life expectancy. Regular follow-up helps assess disease progression and guides individualised care.

Myth 2: People with oHCM need to avoid physical activities.

Fact: Complete avoidance of physical activity is no longer recommended for most patients. Although high-intensity competitive sports may not be suitable for everyone with oHCM, mild-to-moderate exercise is generally encouraged and offers important cardiovascular benefits. Exercise recommendations should always be individualised after a comprehensive assessment by a cardiologist, taking into account symptoms, severity of obstruction, and overall risk profile.

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Myth 3: Diet and lifestyle are the primary causes of oHCM.

Fact: Unlike heart conditions caused by high blood pressure, diabetes, or high cholesterol, oHCM develops because of inherited genetic mutations affecting heart muscle proteins. Since the disease often runs in families, screening of close relatives may also be recommended.

Myth 4: Every patient with oHCM will require surgical treatment

Fact: Surgery is only one of several available treatment options. Care is individualised, and the most appropriate approach depends on each patient’s symptoms and clinical condition.

Myth 5: oHCM cannot go unnoticed.

Fact: The condition can remain silent for years. Symptoms can be subtle and easily mistaken for stress, poor fitness, or other illnesses. Some individuals carrying the genetic mutation never develop symptoms, while others experience mild or intermittent symptoms.

Typical symptoms include:

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Shortness of breath
Chest pain
Fatigue
Palpitations
Dizziness or light-headedness
Fainting, particularly during or after exercise
Given this variability, individuals with persistent symptoms or a family history of cardiomyopathy or sudden cardiac death should undergo appropriate cardiac evaluation.

Myth 6: Medication can cure the condition.

Fact: Advances in treatment have significantly improved disease management, helping many patients lead healthier and more active lives. While current therapies focus on controlling symptoms and reducing complications, ongoing research continues to expand treatment possibilities.

Treatment aims to reduce symptoms, improve blood flow, minimise obstruction, and lower the risk of complications such as abnormal heart rhythms and heart failure. Long-term follow-up remains an important part of care, allowing treatment to be adjusted as the condition evolves.

Timely evaluation is particularly important for those with a family history of the disease. Early detection can also help identify family members who may be at risk and require screening. Although oHCM remains a lifelong condition, it is no longer viewed through the lens of fear alone.

(The author is cardiac electrophysiologist at AIG Hospitals, Hyderabad)