Cardiomyopathy (CM) is rare in pediatric age, and presents the same forms (Dilated, Hypertrophic, Arrhythmogenic, Restrictive and Left-ventricular non-compaction) that are observed in adults. Among familial CM, in addition to the forms of genetic mutation in genes that encode " sarcomeric" proteins (Myosin, Troponin and Myosin-binding Protein C), genetic forms deriving from hereditary metabolic disorders are frequent, such as, for example, Pompe disease, and those associated with other problems such as stunted growth and facial abnormalities, defined as "Syndromes" (e.g. Noonan or Costello syndrome), or neuromuscular diseases (e.g. Duchenne syndrome).
However, some forms of CM, such as Dilated cardiomyopathy (DCM), are characterized by rapid evolution and high mortality. DCM is the main indication for heart transplantation in children over the first year of age. In the first year of life, CM frequently presents heart failure and is usually associated with an unfavorable evolution. On the other hand, heart failure is rarer in older children and adolescents and the major problem, particularly in hypertrophic cardiomyopathy (HCM), is represented by the assessment of the risk of cardiac arrest and sudden death, a particularly dramatic event 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, a Subcutaneous defibrillator (S-ICD).
DCM is the most frequent cardiomyopathy in pediatric age (about half of cases). Among these, in about XNUMX-XNUMX% of cases, it is attributable to a myocardial infection (i.e. of the heart cells), usually by viruses. Most patients undergo heart failure and / or heart transplantation, but some have slow and progressive improvement and may return to normal ventricular size and function. Rarely, pictures very similar to DCM are actually secondary to Congenital Heart Diseases, for example, specific coronary anomalies, which can be corrected by cardiac surgery. It is therefore very important to recognize these anomalies, because treatment choices change.
Even in pediatric age, genetic analysis is essential to clarify the cause of CM and possible specific therapies, such as in HCM in Pompe disease, which is caused by the failure to produce an enzyme due to a genetic mutation. In these children, it is now possible to observe a marked improvement in hypertrophy by the administration of the missing enzyme.
In the near future, the identification of a genetic mutation may lead to the use of therapies capable of delaying or reducing the development of cardiomyopathy. Most of the genes that cause Pediatric CM are the same as those of CM in adults.
Diagnosis and treatment of children and adolescents with Pediatric CM require a multisciplinary approach, and a close collaboration between several experienced specialists.