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Pediatric cardiomyopathies are rare diseases, heterogeneous in clinical presentation, etiology and prognosis. Etiological diagnosis, where genetic analysis plays a key role, is of fundamental importance for defining diagnostic and therapeutic pathways. Furthermore, the identification of the genetic substrate represents a prerequisite for cascade screening in the proband's family members and to allow conscious reproductive choices. To date, genetic testing is performed with the analysis of gene panels (targeted panels) or with the study of the entire exome (whole exome sequencing) using next generation sequencing (NGS) technology. The great genetic heterogeneity and the temporal variability of the clinical manifestations lead to unique problems for pediatric cardiomyopathies, distinct from those of the adult, such as the possible indications for access to the test, the type of test to be used (exome or panel of genes), the importance of analyzing parents, especially in cases with neonatal onset; moreover, the correct execution of bioinformatics analysis and the interpretation of NGS data play a crucial role in the impact of the results on clinical management.

Bicuspid aortic valve (BAV) is the most common congenital heart disease, affecting 0.5-2% of the general population. It is often associated with aortopathy with aneurysmal dilation of the ascending aorta (AA). Up to 75% of patients with coarctation of the aorta (CoA) present with BAV and its diagnosis is crucial because it can increase the risk for aortic complications. CoA is a cardiac malformation that can be undiagnosed until old age with only hypertension as a marker of its presence.We present the case of an asymptomatic 17-year-old boy who underwent regular visit for competitive sports activity. During a treadmill test he showed a hypertensive response to effort and the echocardiogram diagnosed a normally functioning BAV associated with AA dilation. The clinical suspicion of CoA was confirmed by a complete echocardiogram, and the patient underwent catheter-based invasive aortography and the CoA was treated with angioplasty and stenting. Few years after the interventional procedure, he performed a thoracic computed tomography that showed an increased aortic dilation at the level of the Valsalva sinus and the AA. The patient underwent surgical aortic repair using the David technique. At present, the patient continues a close follow-up with advanced cardiac imaging (including cardiac magnetic resonance) for BAV surveillance and accurate detection of all aortic measures.

Hereditary cardiomyopathies, hypertrophic cardiomyopathy, dilated cardiomyopathy, arrhythmogenic cardiomyopathy, restrictive cardiomyopathy and left ventricular noncompaction, are clinically and genetically very heterogeneous diseases, and they represent a frequent cause of cardiac arrest and sudden death. To date, over 100 genes are known to be associated with the onset of cardiomyopathies. Genetic testing is performed by next generation sequencing, a technology that has made it possible to analyze hundreds of genes in many patients simultaneously, shortening costs and execution times. However, with the use of this technology, new problems have arisen regarding the indications for access to the test, the interpretation of the data and the clinical implications of the results.This document aims to represent an operational support tool for hospital cardiologists to make the use of genetic testing more accessible and appropriate for their patients with suspected or ascertained hereditary cardiomyopathy.