Pediatric cardiomyopathy has recently become a major cause associated with cardiac death among many children. Doctors and other medical research professionals have identified that specific genetic mutations are major reasons behind pediatric cardiomyopathy problem. Mutations refer to defects in the spiral of DNA or the protein structure of various genes. Abnormalities present in DNA lead to displacement in the actual sequence of a single or more than one amino acid responsible for the formation of a gene protein.
Is Cardiomyopathy Dominant or Recessive?
Doctors have found that cardiomyopathy disease occurs in children either as inherited from a single parent, who forms the carrier causes transmission of autosomal dominant with approximately 50 percent chances related to its recurrence or from both parents, where each of them contribute a defective gene results in autosomal recessive type of transmission with about 25 percent recurrence chances. Cardiomyopathy may even take place because of the inheritance of maternal transmission i.e. X-linked genes. Research thus continues in focusing on the identification of specific genes responsible for causing cardiomyopathy and better understanding about various genetic abnormalities contributing to the problem. However, the process is a complicated one and has multiple diversified genes to produce extremely variable results. Thus, in order to draw conclusion, we have to consider a few major cases, as mentioned here-
Metabolic Disorder Cases
Inborn metabolism errors consist of many infiltrative storage problems, the production of energy in an abnormal way, biochemical deficiencies and disorders associated with toxic substances accumulating within the heart. The category even includes mitochondrial abnormalities, like MERRF, MELAS, diseases in respiratory system or chain, defects in fatty acid oxidation, mitochondrial myopathies and Barth or Pompe syndromes.
Whenever the demand for energy increases than the ability of human body to supply, such as during any physical stress, illness or reduction in oral intake; the patients suffering from impaired energy metabolism fail to maintain biochemical stability of the body. This result in low levels of blood sugar, excessive acidity in blood or high levels of ammonia directed towards putting extra strain on one’s heart.
Autosomal recessive type of transmission i.e., each parent contributing a defective gene per X-linked type of transmission i.e., mother contributing a defective gene inherits the metabolic disorders. Patients usually remain physically normal during their early childhood, but with continuous impairment in the energy production of patient’s body, accumulation of toxic substances take place throughout his body resulting failure of multiple organs. Common symptoms in this case are reduction in muscles tones, muscular weaknesses, retardation in overall growth, delay in development, consistent lethargy and vomiting and many more. On the other side, when the disease reaches to its critical state, child exhibits stroke type symptoms, suffer from low blood sugar, seizures and fail to use their body’s energy properly.
Malformation Syndrome Cases
Malformation syndromes characterize various major and minor physical abnormalities with distinctive type of facial features. These problems caused from genetic mutations because of X-linked, autosomal dominant or X-linked recessive type of inheritance. This may even take place because of any defect in the chromosome, where a particular chromosome duplicates or deletes. Noonan syndrome is a common type of malformation syndrome case takes place with pediatric type of cardiomyopathy. Here, children face common symptoms like webbed neck, wide set eyes, short stature, low set ears and additional folds in the skin.
Neuromuscular problems with cardiomyopathy consist of all areas affecting skeletal muscles and nerves of humans. These include muscular dystrophies, metabolic myopathies, congenital myopathies, ataxias and many more. Common symptoms of the problem are weakness after infancy phase, decrease in muscle tones, motor control loss, reduction in muscles relaxation and reduction in muscles bulk. Neuromuscular problems related to cardiomyopathy may cause either of dominant or recessive type of genetic problem.
Cardiomyopathy in almost every case or type may be of both recessive and dominant type.
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