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These studies suggest that an enlarged heart can be caused by congenital malformations, genetic factors, physiological adaptations like athletic training, pathological conditions such as hypertrophic cardiomyopathy, hypertension, nutritional anemia, aging, and chronic heart failure.
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Enlargement of the heart in infants and young children is often linked to congenital malformations. These malformations can lead to conditions such as idiopathic hypertrophy, which was previously misunderstood but is now recognized as being associated with congenital defects, rheumatic fever, and other diseases.
Genetic mutations play a significant role in the development of cardiomyopathies, which can lead to an enlarged heart. For instance, hypertrophic cardiomyopathy (HCM) is often caused by mutations in genes encoding the thick filament components myosin heavy chain and myosin binding protein C (MYH7 and MYBPC3). Additionally, variants in the adiponectin receptor 1 (ADIPOR1) gene have been identified as risk factors for HCM, contributing to cardiac hypertrophy through dysregulated glucose and lipid metabolism.
Myocardial degeneration and fibrosis are common causes of heart enlargement. These conditions lead to dilatation and hypertrophy of the heart, which were previously categorized under idiopathic hypertrophy. The heart's response to various cardiopathological conditions often involves hypertrophic growth to augment cardiac pump function and decrease ventricular wall tension.
Systemic hypertension is a leading cause of left ventricular hypertrophy, which can result in left atrial enlargement due to ventricular diastolic impairment. This condition is often observed in patients with hypertensive heart disease.
Nutritional anemia, particularly iron deficiency, can also lead to cardiac enlargement. Studies on rats have shown that a diet low in iron can cause the heart to increase significantly in weight, suggesting hyperplasia as a likely explanation.
Regular physical training, especially in elite athletes, can cause the heart to enlarge. This condition, known as "athlete's heart," involves a combination of left ventricular cavity enlargement and increased wall thickness. These changes are considered favorable adaptations to enhance cardiovascular performance.
The aging process itself can lead to an enlarged heart. As individuals age, there is a loss of myocyte nuclei in the myocardium, which is compensated by an increase in myocyte cell volume. However, this cellular hypertrophy is often insufficient to maintain normal cardiac mass, leading to myocardial dysfunction and heart failure in the elderly.
Intracellular signaling pathways play a crucial role in the pathologic growth and remodeling of the heart. These pathways are central to the development of cardiac hypertrophy and heart failure. Therapeutic targets emerging from molecular and genetic studies focus on these signaling pathways to potentially mitigate the adverse effects of heart enlargement .
The causes of an enlarged heart are multifaceted, involving congenital malformations, genetic mutations, pathological conditions, physiological adaptations, aging, and intracellular signaling pathways. Understanding these diverse factors is crucial for developing effective diagnostic and therapeutic strategies to manage and treat cardiomegaly.
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