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.

Congenital heart disease (CHD), the most common major congenital anomaly, is associated with a genetic syndrome (chromosomal anomalies, genomic disorders, or monogenic disease) in 30% of patients. The aim of this systematic review was to evaluate if, in the neonatal setting, clinical clues that orient the diagnostic path can be identified. For this purpose, we revised the most frequent dysmorphic features described in newborns with CHD, comparing those associated with monogenic syndromes (MSG) with the ones reported in newborns with genomic disorders. For this systematic review according to PRISMA statement, we used PubMed, Medline, Google Scholar, Scopus database, and search terms related to CHD and syndrome. We found a wide range of dysmorphisms (ocular region, ears, mouth, and/or palate and phalangeal anomalies) detected in more than half of MSGs were found to be associated with CHDs, but those anomalies are also described in genomic rearrangements syndromes with equal prevalence. These findings confirmed that etiological diagnosis in newborns is challenging, and only the prompt and expert recognition of features suggestive of genetic conditions can improve the selection of appropriate, cost-effective diagnostic tests. However, in general practice, it is crucial to recognize clues that can suggest the presence of a genetic syndrome, and neonatologists often have the unique opportunity to be the first to identify abnormalities in the neonate.

Objective The new coronavirus infection from severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has been recognized as a global public health emergency, and neonates may be more vulnerable due to their immature immune system. The first aim of this study was to report our experience on the management of neonates from mothers with SARS-CoV-2 infection focusing on a 28-day follow-up since birth. The second aim is to assess how many data on neonatal outcomes of the first month of life are reported in literature, performing a systematic review and meta-analysis. Study design We report our experience based on routine management of neonates born to mothers with SARS-CoV-2 infection and follow-up until 28 days of life. Results In our experience at discharge, 1/48 (2.08%) of entrusted (mother refusing personal protective equipment) and none of separated presented positive nasopharyngeal swab (p = NS). All babies show good outcome at 28 days of life. The literature data show that the percentage of positive separated infants is significantly higher than the percentage of infants entrusted to positive mothers with appropriate control measures (13.63 vs. 2.4%; p = 0.0017). Meta-analysis of studies focused on follow-up showed a 2.94% higher risk of incidence of SARS-CoV-2 infection in entrusted newborns than in separated newborns (95% confidence interval: 0.39–22.25), but this was not significant (p = 0.30). Conclusion A vertical transmission in utero cannot be totally excluded. Since in newborns, the disease is often ambiguous with mild or absent symptoms, it is important to define the most efficient joint management for infants born to COVID-19 positive mothers, being aware that the risk of horizontal transmission from a positive mother, when protective measures are applied, does not seem to increase the risk of infection or to affect the development of newborns from birth to first four weeks of life, and encourages the benefits of breastfeeding and skin-to-skin practice. Key Points

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.