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- Different forms of the disease. Cardiomyopathy is a chronic disease of the heart muscle that can present in four forms and may in severe cases lead to heart failure and/or sudden death. Dilated and hypertrophic cardiomyopathy are the most common forms with restrictive and arrhythmogenic right ventricular cardiomyopathy occurring less frequently in children. Diagnosis is confirmed through an EKG and echocardiogram by a pediatric cardiologist.
- Can affect any child. Cardiomyopathy predominately affects adults but in rare instances does affect infants and children. Cardiomyopathy can occur in any child regardless of age, race, gender or socioeconomic background. Recent studies show that children are about 10 times more likely to develop cardiomyopathy during the first year of life than ages 2 to 18 combined.
- Affects approximately 30,000 children in the U.S. if all forms are considered. This is comparable to the number of people affected with cystic fibrosis in the U.S. According to the Pediatric Cardiomyopathy Registry, one in every 100,000 children are diagnosed with symptoms each year. This number is conservative though, and for every diagnosed child there is another undiagnosed child unknowingly at risk of premature death.
- Multiple causes for the disease. Cardiomyopathy in children can be either acquired (i.e. viral infection or cancer chemotherapy) or inherited through one parent (dominant transmission) or both parents (recessive transmission). In rare cases, cardiomyopathy can be a symptom of a larger metabolic, mitochondrial or multi-system disorder (i.e. fatty acid oxidation disorder, Noonans, Barth syndrome). However, more than than 75% of patient cases do not have a known cause.
- Extremely variable manifestation. Characterized by its highly variable course and uncertain outcome, pediatric cardiomyopathy is a difficult heart disease to treat in a standardized manner. Some children may be asymptomatic (i.e no symptoms) or stabilize over time, whereas others may have a more severe and progressive form. Even children from the same affected family may exhibit different symptoms at different stages in life.
- Prognosis is still unclear for many cases. Cardiomyopathy in children is a very heterogeneous disease with many considerations. Depending on the root cause of the disease and the stage at which the child is diagnosed, the outcome may vary considerably. For those children who acquire cardiomyopathy through a viral infection, research shows that 33% will recover completely, 33% will stabilize with the condition and 33% will get worst. With more research in this area, physicians will have better guidelines for improving outcomes for children with cardiomyopathy.
- Minimal lifestyle restrictions. Fortunately, many children with cardiomyopathy can lead a relatively normal life with few lifestyle restrictions. A diagnosis will most likely mean more frequent doctor visits for monitoring of the condition and daily cardiac medication. Depending on the cause, type and stage of the disease, other modifications may involve diet, restriction from competitive, contact sports and minor school accommodations.
- Search for a cure continues. Unlike other congenital heart conditions, there is no surgical treatment or cure that can repair the damaged heart or the stop the progression of the disease. The first treatment option is usually medication to improve the functioning of the heart and for those with arrhythmia (irregular heart rhythm) an implantable defibrillator may be recommended. For children that fail medical management, a heart transplant may need to be considered. Cardiomyopathy is the top reason for heart transplants in children. More than 80% of children receive a donor organ in time and survival after transplantation is good with an intermediate survival rate of approximately 70%.
- Few medical breakthroughs for pediatric cardiomyopathy. Since cardiomyopathy was first recognized in 1950, there have been few medical breakthroughs in understanding this complex disease. Surprisingly, the outcome for children with cardiomyopathy is the same now as it was three decades ago. Most of the research to date has been performed on adults with a strong family history of the disease. However, only 20-30% of children with cardiomyopathy have a family history of the disease. It is also unclear if the genetic mutations responsible for cardiomyopathy in adults are the same as those that cause the disease in children.
- Federal research spending is disproportionate to the severity of the disease. In relation to other serious diseases, research on pediatric cardiomyopathy continues to be extremely under-funded even though the years of potential life lost in a child with heart disease is 2-7 times that of an adult. While the mortality rate for pediatric cardiomyopathy is higher than childhood cancer, and each year the number of children in the U.S. diagnosed with cardiomyopathy is 3 times that of pediatric AIDS, Federal research spending on pediatric cardiomyopathy is only a fraction (less than 3%) of what these other well known diseases receive.