Familial Hypertrophic Cardiomyopathy is a genetic heart disorder that affects the muscles of the heart, causing it to thicken and become less effective in pumping blood. The word is spelled as /fəˈmɪljəl hʌɪˈpɜːtrəfɪk kɑːdɪəʊmaɪˈɒpəθi/. The word "familial" indicates a genetic component, while "hypertrophic" means excessive growth or thickening, and "cardiomyopathy" refers to a heart condition. The phonetic transcription helps to understand the pronunciation of the word, which is crucial for proper communication in the medical field.
Familial Hypertrophic Cardiomyopathy (FHC) is a genetic heart disorder characterized by an abnormal thickening (hypertrophy) of the heart muscle, specifically the left ventricle. This condition is inherited in an autosomal dominant pattern, meaning an affected individual has a 50% chance of passing on the mutated gene to their children.
Individuals with FHC may experience a range of symptoms, including shortness of breath, chest pain, fatigue, palpitations, and lightheadedness. These symptoms are often caused by the reduced ability of the heart to pump blood effectively due to the thickened muscle walls. In some cases, FHC can lead to arrhythmias or sudden cardiac death.
There are various genetic mutations associated with FHC, with the most common being mutations in genes that code for certain proteins that play essential roles in the contraction of heart muscles. Genetic testing can be utilized to diagnose FHC, particularly in cases where there is a family history of the disorder.
Treatment for FHC aims to manage symptoms and prevent complications. This may involve the use of medications to relax the heart muscle or control heart rhythm, lifestyle modifications such as avoiding intense physical activities, and the consideration of surgical interventions in severe cases.
Regular monitoring and follow-up with a cardiologist are crucial for individuals with familial hypertrophic cardiomyopathy to ensure early detection of any changes in the condition and to manage it effectively, helping to improve the quality and longevity of life.