Rare cardiovascular diseases
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Definition and Prevalence of Rare Cardiovascular Diseases
Rare cardiovascular diseases (RCDs) are defined as conditions affecting fewer than 1 in 2,000 people in the general population, according to European Union standards, or fewer than 200,000 people in the United States. Despite their individual rarity, there are thousands of distinct rare diseases, collectively impacting millions of people worldwide and presenting significant healthcare challenges due to their diversity and low prevalence 12410.
Classification and Types of Rare Cardiovascular Diseases
RCDs are classified based on clinical symptoms, anatomical features, and underlying pathologies. Major categories include diseases of the systemic and pulmonary circulation, cardiomyopathies, congenital heart diseases, cardiac tumors, arrhythmogenic disorders, cardiovascular diseases in pregnancy, and unclassified rare conditions. This classification helps guide diagnosis, treatment, and research, and supports the creation of registries and databases for better management and understanding of these diseases 15.
Genetic and Molecular Insights in Rare Cardiovascular Diseases
Many RCDs are genetic in origin, often caused by rare variants with large effects. While genome-wide association studies have identified common genetic variants linked to cardiovascular disease, these explain only a small part of the risk. Rare, monogenic forms of cardiovascular disease, such as certain cardiomyopathies and arrhythmia syndromes, have highlighted key genes and mechanisms, but large-scale studies of rare variants are still developing 367.
Diagnostic Challenges and Advances
Diagnosing RCDs is difficult due to their rarity, overlapping symptoms with more common diseases, and the need for specialized tests. Cardiovascular magnetic resonance imaging (CMR) is a valuable tool, providing detailed information on heart structure, function, and tissue characteristics. CMR can identify specific patterns, such as fibrosis or edema, that are typical of certain rare diseases like cardiac amyloidosis, hypertrophic cardiomyopathy, and Anderson–Fabry disease . Additionally, new computational methods, such as high utility rare rule mining, are being developed to detect rare cardiovascular disease patterns from health records, improving early diagnosis and risk assessment .
Role of Precision Medicine and Stem Cell Models
Precision medicine is increasingly important for RCDs, especially for patients with unique genetic mutations. Human-induced pluripotent stem cells (iPSCs) derived from patients can be used to model specific rare cardiovascular diseases in the lab, enabling personalized study of disease mechanisms and drug responses. This approach is particularly useful for conditions like long QT syndrome, Brugada syndrome, arrhythmogenic right ventricular cardiomyopathy, Fabry disease, and Marfan syndrome .
Clinical Management and Multidisciplinary Care
Managing RCDs often requires a multidisciplinary approach, involving cardiologists, geneticists, nurses, and other specialists. Nurses play a crucial role in supporting patients and families, often being the first point of contact and helping to identify "red flags" that may indicate a rare disease. Due to the complexity and high risk of complications, especially in surgical settings (e.g., cardiac amyloidosis), careful patient selection and specialized care are essential 4710.
Conclusion
Rare cardiovascular diseases, though individually uncommon, collectively represent a significant clinical and public health challenge. Advances in classification, imaging, genetics, and precision medicine are improving diagnosis and management. However, ongoing collaboration, research, and awareness are needed to address the unique needs of patients with these complex conditions 12345679+1 MORE.
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