Pediatric cardiomyopathies

Between the CM family members, in addition to the forms from genetic mutation in the genes that produce proteins “sarcomeric”, (Myosin, Troponin e Myosin-binding protein C), genetic forms deriving from are frequent hereditary metabolic disorders, for example, the Pompe disease, and those associated with other problems such as reduced growth e facial anomalies, defined “Syndromes” (Eg Noonan syndrome or Costello), or neuromuscular diseases (e.g. the Duchenne syndrome).

However, some forms of CM, such as Dilated cardiomyopathy (CMD), are characterized by a rapid evolution ed high mortality. The CMD constitutes the main indication al heart transplants in children over the age of one year. In first year of life CMs frequently present heart failure and are usually associated with aunfavorable evolution. In older children and adolescents it heart failure and instead rarer and the biggest problem, especially in the Hypertrophic Cardiomyopathy (HCM) is represented by the evaluation of the risk of cardiac arrest e unexpected death, a particularly event dramatic at this age. In cases where this risk appears very high, it is possible to implant a Defibrillator (ICD) and, if the child has reached a certain age and weight, of a Subcutaneous defibrillator (S ICD).

La CMD it's cardiomyopathy more frequently in pediatric age (about half of the cases). Among these in approximately 10-25% of cases is referable to a myocardial infection (that is, of the heart cells), usually from virusMost patients experience decompensation and / or heart transplant, but some have a slow and progressive improvement and may return to ventricular size and function values normal. Rarely very similar paintings to a CMD are actually secondary to Congenital Heart Disease, for example specific coronary anomalies, which can be corrected by a cardiac surgery. It is therefore very important recognize these anomalies, because they change the therapeutic choices.

Even in pediatric age thegenetic analysis è fundamental to clarify the cause of CM and the possible specific therapies, such as in the Pompe disease-related HCM, which is caused by the failure to produce an enzyme due to one genetic mutation. In these little ones it is now possible to observe a marked improvement of hypertrophy with the administration of themissing enzyme.

La diagnosis and treatment of children and adolescents with Pediatric CMs require a multidisciplinary approach, and one close cooperation between different expert specialists.