Genetic Basis of Dilated Cardiomyopathy in Children
Zakia Badr Sayed Mohamed;
Abstract
Cardiomyopathy (CM) is a heterogeneous disease caused by a functional abnormality of the cardiac muscle. CM is of two major types, dilated and hypertrophic, and is further classified as either primary or secondary. Secondary CM is caused by extrinsic factors, including infection, ischemia, hypertension, and metabolic disorders. Primary CM is diagnosed when the extrinsic factors of secondary CM are absent.
It is a common cause of heart failure in children and the most common indication for heart transplantation in children older than one year.
Dilated CM (DCM) is the most common form of CM worldwide and has many causes. In 30% to 48% of patients, DCM is genetically inherited. Moreover, inflammatory disorders such as myocarditis, or toxic agents such as medications and alcohol can result in DCM. Of all the DCM cases, 20% to 48% have a family history of the disease.
Most CM patients have a family history of the disease; hence, CM is probably genetically transmitted. The genetic components are possibly mutations in the DNAspiral, the protein structure of many genes. Current research is being conducted to identify the specific genes that cause CM and to better understand how these genetic abnormalities contribute to the disease. However, CM is a complex disease, with multiple diverse genes producing extremely variable outcomes.
The symptoms of CM may differ in every child. Symptoms can be absent, mild, or severe. Heart murmurs are not always present in children with CM. Because CM is not easily detected on physical examination, it is often diagnosed in its later stages.
Infants and children with DCM generally present with signs of congestive heart failure. Tachypnea, labored breathing, poor appetite, and slow weight gain are common symptoms in infants. In older children, there may be signs of poor exercise tolerance and gastrointestinal distress. In more severe cases, patients may experience syncope, arrhythmias, or sudden cardiac death. Another sign of DCM is greater dilation and a more spherical appearance of the left ventricle than usual, with raised wall stress and depressed systolic function. In addition, mitral regurgitation and ventricular arrhythmias can also develop. In the most severe cases, affected individuals present with symptoms and signs of heart failure.
Echocardiography is the most informative noninvasive
It is a common cause of heart failure in children and the most common indication for heart transplantation in children older than one year.
Dilated CM (DCM) is the most common form of CM worldwide and has many causes. In 30% to 48% of patients, DCM is genetically inherited. Moreover, inflammatory disorders such as myocarditis, or toxic agents such as medications and alcohol can result in DCM. Of all the DCM cases, 20% to 48% have a family history of the disease.
Most CM patients have a family history of the disease; hence, CM is probably genetically transmitted. The genetic components are possibly mutations in the DNAspiral, the protein structure of many genes. Current research is being conducted to identify the specific genes that cause CM and to better understand how these genetic abnormalities contribute to the disease. However, CM is a complex disease, with multiple diverse genes producing extremely variable outcomes.
The symptoms of CM may differ in every child. Symptoms can be absent, mild, or severe. Heart murmurs are not always present in children with CM. Because CM is not easily detected on physical examination, it is often diagnosed in its later stages.
Infants and children with DCM generally present with signs of congestive heart failure. Tachypnea, labored breathing, poor appetite, and slow weight gain are common symptoms in infants. In older children, there may be signs of poor exercise tolerance and gastrointestinal distress. In more severe cases, patients may experience syncope, arrhythmias, or sudden cardiac death. Another sign of DCM is greater dilation and a more spherical appearance of the left ventricle than usual, with raised wall stress and depressed systolic function. In addition, mitral regurgitation and ventricular arrhythmias can also develop. In the most severe cases, affected individuals present with symptoms and signs of heart failure.
Echocardiography is the most informative noninvasive
Other data
| Title | Genetic Basis of Dilated Cardiomyopathy in Children | Other Titles | الناحية الوراثية لاعتلال عضلة القلب الاتساعى عند الأطفال | Authors | Zakia Badr Sayed Mohamed | Issue Date | 2014 |
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