Rhabdomyomas are the most common type of cardiac tumors in children. Anatomically, they can be considered as hamartomas. They are usually randomly diagnosed antenatally or postnatally sometimes presenting in the neonatal period with haemodynamic compromise or severe arrhythmias although most neonatal cases remain asymptomatic. Typically rhabdomyomas are multiple lesions and usually regress spontaneously but are often associated with tuberous sclerosis complex (TSC), an autosomal dominant multisystem disorder caused by mutations in either of the two genes, TSC1 or TSC2. Diagnosis of tuberous sclerosis is usually made on clinical grounds and eventually confirmed by a genetic test by searching for TSC genes mutations.

It is well known that the natural history of chronic heart failure (CHF),regardless of age and aetiology,is characterized by progressive cardiac dysfunction refractory to conventional cardiokinetic, diuretic and peripheral vasodilator therapy. Several previous studies, both in animals and humans, showed that the key pathogenetic element of CHF negative clinical evolution is constituted by myocardial remodeling. This is a complex pathologic process of ultrastructural rearrangement of the heart induced by various neuro-humoral factors released by cardiac fibrocells in response to biomechanical stress connected to chronic haemodynamic overload. Typical features of myocardial remodeling are represented by cardiomyocytes hypertrophy and apoptosis, extracellular matrix alterations, mesenchymal fibrotic and phlogistic processes and by cardiac gene expression modifications with fetal genetic program reactivation. In the last years, increasing knowledge of subtle molecular and cellular mechanisms involved in myocardial remodeling has led to the discovery of some new potential therapeutic targets capable of inducing its regression. In this paper our attention is focused on the possible use of antiapoptotic and antifibrotic agents, and on the fascinating perspectives offered by the development of myocardial gene therapy and, in particular, by myocardial regenerative therapy.

Persistent pulmonary hypertension of the newborn (PPHN) is a cyanogenic plurifactorial disorder characterized by failed postnatal drop of pulmonary vascular resistance and maintenance of right-to-left shunt across ductus arteriosus and foramen ovale typical of intrauterine life. The pathogenesis of PPHN is very complex and can result from functional (vasoconstriction) or structural (arteriolar remodeling, reduced pulmonary vessels density) anomalies of pulmonary circulation. Etiopathogenetic factors heterogeneity can strongly condition therapeutical results and prognosis of PPHN that is particularly severe in organic forms that are usually refractory to selective pulmonary vasodilator therapy with inhaled nitric oxide. This paper reports the more recent acquisitions on molecular physiopathogenetic mechanisms underlying functional and structural forms of PPHN and illustrates the bases for adoption of new potential treatment strategies for organic PPHN. These strategies aim to reverse pulmonary vascular remodeling in PPHN with arteriolar smooth muscle hypertrophy and stimulate pulmonary vascular and alveolar growth in PPHN associated with lung hypoplasia.In order to restore lung growth in this severe form of PPHN, attention is focused on the results of studies of mesenchymal stem cells and their therapeutical paracrine effects on bronchopulmonry dysplasia, a chronic neonatal lung disease characterized by arrested vascular and alveolar growth and development of pulmonary hypertension.

Kawasaki disease (KD) is a generalized systemic vasculitis of unknown etiology involving medium and small size blood vessels, particularly the coronary arteries. In these vessels a progressive stenosis may result from active remodeling with an intimal proliferation and neoangiogenesis. The aim of our study was to assess, by using high-resolution transthoracic 2D Echocardiography, if subjects with a previous diagnosis of Kawasaki disease after several years show a coronary intimal thickening, suggestive of a persistent cardiovascular risk.

Adolescents with type 1 diabetes and obesity present higher cardiovascular risk and ambulatory blood pressure measurements (ABPM) has been shown to predict vascular events, especially by identifying the nondipper status. The aim of our observational cross-sectional study conducted in adolescents with type 1 diabetes, overweight subjects and healthy controls was to assess mean blood pressure parameters to identify subclinical cardiovascular risk. The study included adolescents patients with type 1 diabetes followed in our Pediatric Department in University of Catania between January 2011 and 2013. A total of 60 patients were enrolled, and 48 (32 male and 16 female) completed the study. For each subject we performed systolic and diastolic Ambulatory Blood Pressure Measurements (ABPM) during wakefulness and sleep recording blood pressure every 30 min for 24 h with the Tonoport V/2 GE CardioSoft V6.51 device. We compared the data of patients with those of overweight subjects and healthy controls. ABPM revealed no significant difference between type 1 diabetic patients and overweight subjects in 24 h Systolic, 24 h Diastolic, Day-time Systolic, Night-time systolic and Day-time Diastolic blood pressure values but significantly different values in Night-time Diastolic blood pressure values (p < 0.001). We found significant differences between type 1 diabetic patients and healthy controls in all 24 h Systolic (p < 0.001), 24 h Diastolic (p < 0.01), Day-time Systolic (p < 0.01), Night-time Systolic (p < 0.001), Day-time Diastolic (p < 0.05) and Night-time Diastolic (p < 0.001) blood pressure values. We detected hypertension in 12/48 (25 %) type 1 diabetic patients and in 10/48 overweight subjects (p = 0.62; OR 1.2; CI 0.48–3.29), whereas no-one of healthy controls presented hypertension (p < 0.001). We observed nondipper pattern in 40/48 (83.3 %) type 1 diabetic patients, in 33/48 (68.8 %) overweight subjects (p = 0.094; OR 2.27; CI 0.85–6.01), and in 16/48 (33.3 %) of healthy controls (p < 0.001; OR 10; CI 3.79–26.3). ABPM studies might help to define a subset of patients at increased risk for the development of hypertension. In evaluating blood pressure in type 1 diabetes and overweight subjects, ABPM should be used since a reduced dipping can indicate incipient hypertension.

Nontuberculous Mycobacteria (NTM), often referred to as environmental or atypical mycobacteria, are opportunistic pathogens phylogenetically as well as clinically distinct from both the Mycobacterium tuberculosis complex and Mycobacterium leprae. In the pediatric age group, NTM disease manifests with a diverse range of clinical phenotypes. Cervicofacial lymphadenitis stands out as the most common presentation among children who are immunocompetent. Conversely, skin and soft tissue infections, pulmonary disease and disseminated infections constitute less prevalent, yet clinically important, disease forms. Accurate identification is paramount, as differentiating NTM infections from tuberculosis (TB) remains challenging based solely on clinical symptoms, initial laboratory analyses, or standard radiological findings. This distinction is critical because treatment protocols for NTM infections differ substantially from those for tuberculosis. This narrative review offers a comprehensive and up-to-date summary of NTM infections in children. It examines the spectrum of clinical presentations and their prevalence, addresses the complexities of diagnosis and therapy, and underscores the importance of differential diagnosis against tuberculosis. Furthermore, we explore current diagnostic strategies, available therapeutic options, and the link between specific clinical syndromes and tailored management, pointing out existing knowledge gaps and suggesting priorities for future research. The absence of rapid, species-specific diagnostic tools often results in delayed initiation of targeted treatment, while overlapping clinical features with TB can lead to misdiagnosis. Therapeutic management is complicated by the necessity for prolonged drug courses, frequent occurrences of drug intolerance, limited availability of child-appropriate formulations, and the rising tide of antimicrobial resistance. Successfully tackling these issues demands enhanced surveillance, precise species-level identification, the creation of child-friendly drug formats, and the development of evidence-based treatment guidelines specifically designed for the pediatric population.