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Inherited heart conditions are genetic disorders that affect the heart's structure, function, or both, often passed down through families. They encompass a range of diseases such as hypertrophic cardiomyopathy, long QT syndrome, and familial hypercholesterolemia. Despite their genetic roots, understanding and managing these conditions have vastly improved, thanks to advancements in medical research. The prevalence of inherited heart conditions is significant, with estimates suggesting that approximately 1 in 500 people may be affected by hypertrophic cardiomyopathy alone, making awareness and knowledge about these diseases crucial for early detection and management.
The primary cause of inherited heart conditions is genetic mutations. These mutations affect the heart's ability to function normally. The specific gene mutation depends on the type of inherited heart condition. For example, hypertrophic cardiomyopathy is often caused by mutations in genes that encode for proteins of the cardiac sarcomere. Familial hypercholesterolemia, on the other hand, typically results from mutations affecting the body's ability to remove low-density lipoprotein (LDL) cholesterol from the blood, leading to dangerously high cholesterol levels.
- Shortness of breath, especially during exertion - Chest pain, particularly during physical activity - Fainting episodes, which may be related to physical activity or emotional stress - Palpitations or feeling a rapid, fluttering, or pounding heart - Fatigue, more so than what would be expected from normal activities - Swelling of the legs, ankles, or other parts of the body due to fluid accumulation - High blood cholesterol levels (specifically in familial hypercholesterolemia)
Diagnosis of inherited heart conditions often requires a comprehensive evaluation, including a thorough medical and family history, physical examination, and several specialized tests. Electrocardiogram (ECG) and echocardiogram are common first steps to assess the heart's electrical activity and structure. Genetic testing can provide a definitive diagnosis by identifying specific gene mutations. In some cases, other imaging tests such as cardiac MRI may be recommended for a more detailed view of the heart's structure and function.
Preventing inherited heart conditions is not possible due to their genetic nature; however, adopting a healthy lifestyle can help manage symptoms and reduce the risk of complications. Functional medicine approaches prioritize integrative, holistic treatments tailored to the individual's genetic makeup, lifestyle, and environmental factors. For treatment, a combination of lifestyle changes, medication, and, in some cases, surgical interventions are used. Lifestyle modifications might include a balanced diet low in saturated fats and cholesterol, regular physical activity tailored to one's abilities and condition, and strategies for stress reduction. Nutraceuticals, such as coenzyme Q10 or omega-3 fatty acids, may support heart health, though it's important to discuss these with a healthcare provider. Medications can help manage symptoms and risk factors; for instance, beta-blockers or calcium channel blockers for hypertrophic cardiomyopathy or statins for high cholesterol in familial hypercholesterolemia. In severe cases, surgical options like septal myectomy or the implantation of a defibrillator might be necessary. Ongoing research into gene therapy holds promise for future treatment avenues directly addressing the genetic causes of these conditions.