Anomalous aortic origin of coronary artery: For a challenging diagnosis, a transthoracic echocardiogram is recommended

Anomalous aortic origin of a coronary artery (AAOCA), especially the interarterial course of the right or left coronary artery, predisposes paediatric patients to myocardial ischaemia. This rare condition is a leading cause of sudden cardiac death. General paediatricians face challenges when diagnosing this anomaly, and they should pay particular attention to the recurrence of exercise-related syncope without prodromal symptoms, chest pain and dyspnoea. An accurate transthoracic echocardiogram with Doppler colour flow mapping is the best method to use to identify AAOCA. Conclusion Identifying an AAOCA is challenging, and we provide advice on clinical red flags and diagnostic approaches for general paediatricians

Infant with poor growth after cardiac surgery: Do not miss the rhythm!

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New insights on Noonan syndrome's clinical phenotype: a single center retrospective study

Background: Noonan syndrome (NS) is a clinically and genetically heterogeneous disorder. Since its clinical phenotype is often mild and difficult to differentiate from other syndromes, its diagnosis can be challenging and its prevalence in the pediatric population is most certainly underestimated. The difficulty in identifying Noonan syndrome is also increased by the fact that genetic tests are currently not able to detect an underlying mutation in around 10% of the cases. Methods: This is a retrospective, observational study conducted at the Institute for Maternal and Child "Burlo Garofolo" in Trieste, Italy. We recruited all the patients with clinical and/or genetic diagnosis of NS who were evaluated at the Department of Pediatrics between October 2015 and October 2020. Statistical analyses were performed with IBM SPSS Statistics software. The association between discrete variables has been evaluated through chi-squared test, indicating statistically significant p with Pearson test or Fischer test for variables less than 5. Results: We recruited a total of 35 patients affected by Noonan syndrome. In 24 patients (75%) we identified an underlying genetic substrate: 17 patients had a mutation on PTPN11 (61%), 2 in SOS1, KRAS and SHOC2 (7% each) and only 1 in RAF1 (4%). 25% of the subjects did not receive a genetic confirm. As for the phenotype of the syndrome, our study identified the presence of some clinical features which were previously unrelated or poorly related to NS. For example, renal and central nervous system abnormalities were found at a higher rate compared to the current literature. On the contrary, some features that are considered very suggestive of NS (such as lymphatic abnormalities and the classical facial features) were not frequently found in our population. Conclusions: In our analysis, we focused on the main phenotypic features of NS, identifying various clinical manifestation that were not associated with this genetic condition before. This could be helpful in raising the knowledge of NS's clinical spectrum, facilitating its diagnosis

Retrospective study showed that palpitations with tachycardia on admission to a paediatric emergency department were related to cardiac arrhythmias

AIM: This retrospective study reviewed the prevalence and long-term prognosis of children aged 0-18 with palpitations who were admitted to the emergency department (ED) of an Italian paediatric hospital. METHODS: We examined all admissions to the ED of the IRCCS Burlo Garofolo between January 2009 and December 2015 by selecting triage diagnoses of palpitations. The hospital discharge cards were reviewed to assess vital parameters, physical examinations, diagnostic tests, cardiology consultations and final diagnoses. RESULTS: Of the 142 803 patients who attended our ED for any reason, 96 (0.07%) complained of palpitations. Despite this low prevalence, it was noteworthy that 13.5% had a real underlying arrhythmic cause and needed medical assistance. Over half (52.1%) were women and the mean age was 12.7 years. At the long-term follow-up, at a mean of 47 \ub1 23 months, 53.8% of patients with a cardiac arrhythmia had received medical therapy and 46.1% had undergone trans-catheter ablation for supraventricular tachycardia. A heart rate above 146 beats per minute or palpitations for more than an hour was statistically related to a cardiac arrhythmia. CONCLUSION: Palpitations were an infrequent cause of admission to our ED, but 13.5% who displayed them had an underlying cardiac arrhythmia

Brugada Syndrome: Focus for the General Pediatrician

Brugada Syndrome is an "inherited" channelopathy characterized by a predisposition to syncope and sudden death. It typically presents in young adults but is also known to affect the pediatric population, even if the prevalence is low compared to the adult population. The diagnostic ECG pattern shows coved-type ST-segment elevation in the right precordial leads, occurring spontaneously or after provocative drug tests with IV administration of Class I antiarrhythmic drugs. However, the electrocardiographic findings may vary, and transient or concealed forms of the syndrome further complicate diagnosis, necessitating thorough evaluation and close clinical follow-up. The clinical presentation of Brugada Syndrome may range from asymptomatic individuals to patients who have experienced syncope or sudden cardiac arrest. The syndrome remains underdiagnosed due to its elusive symptoms and the absence of abnormal findings between episodes. Additionally, specific triggers such as fever, certain medications and alcohol consumption may unmask the electrocardiographic changes and provoke arrhythmias in susceptible individuals. Given its elusive nature, early diagnosis and risk stratification are crucial in identifying individuals who may benefit from an implantable cardioverter defibrillator, the mainstay of treatment for high-risk patients, or pharmacological interventions

Cardio-pulmonary function among children with mild or asymptomatic COVID-19 infection needing certification for return-to-play

Aim To explore the cardio-pulmonary function of children returning to play sports after mild or asymptomatic SARS-CoV-2 infection. Methods This is a consecutive case series conducted at the Institute for Maternal and Child Health, Trieste, Italy. Paediatric patients who accessed the Institute for cardiologic and pneumological evaluation before the return-to-play competitive sports were recruited, according to the Italian Sports Medical Federation recommendations. Echocardiogram, electrocardiogram, treadmill ECG test and pulmonary function tests were performed. Results One hundred and thirty-two patients (aged 8-17 years old, mean age 12.8 +/- 2.5) were recruited. Among these, 127 children were considered for the final analysis (49.6% females). Out of 127, 84 (66.1%) had a mild symptomatic form of SARS-CoV-2 infection, while 43 (33.9%) were asymptomatic. The main referred symptoms were fever (n = 37, 44%), asthenia (n = 14, 16.7%), rhinitis (n = 16, 19%), ageusia (n = 19, 22.6%), anosmia (n = 24, 28.6%), sore throat (n = 3, 3.6%), cough (n = 9, 10.7%), arthralgia-myalgia (n = 11, 13.1%), headache (n = 23, 27.4%) and gastrointestinal symptoms (n = 7, 8.3%). No child presented evidence of cardio-pulmonary function impairment after an average time of 77.3 days (SD 35) from SARS-CoV-2 swab positivity and a median of 68 days (IQ1 52, IQ3 92.5). Conclusion This preliminary study suggests that, in the absence of specific symptoms, the diagnostic yield of cardio-pulmonary tests before returning to play sports may be very low

Long QT syndrome and left ventricular non-compaction in a family with KCNH2 mutation: A case report

Background: Left ventricular non-compaction (LVNC) is an abnormality of the myocardium, characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. Long QT syndrome (LQTS) is a cardiac ion channelopathy presenting with a prolonged QT interval on resting electrocardiogram and is associated with increased susceptibility to sudden death. The association between LVNC and LQTS is uncommon. Case presentation: We report an Italian family with a novel pathogenic KCNH2 variant who presented with clinical features of LVNC and LQTS. The proband came to our attention after two syncopal episodes without prodromal symptoms. His ECG showed QTc prolongation and deep T wave inversion in anterior leads, and the echocardiogram fulfilled LVNC criteria. After that, also his sister was found to have LQTS and LVNC, while his father only presented LQTS. Conclusions: Physicians should be aware of the possible association between LVNC and LQTS. Even if this association is rare, patients with LVNC should be investigated

Funzione cardiopolmonare in bambini con pregressa infezione da Covid-19 lieve o asintomatica e ritorno all'attività sportiva

Aim - To evaluate the cardiopulmonary function in children returning to play sports after mild or asymptomatic SARS-CoV-2 infection. - Methods - This is a consecutive case series conducted at the Institute for Maternal and Child Health, Trieste, Italy. Paediatric patients who accessed the Institute for cardiologic and pneumological evaluation before the return to play competitive sports were recruited. According to the Italian Sports Medical Federation recommendations, echocardiogram, electrocardiogram, treadmill ECG test and pulmonary function tests were performed. - Results - 240 patients (aged 8-17 years old) were recruited. Among these, 233 children were considered for the final analysis. Out of 233, 147 (63.1%) had a mild symptomatic form of SARS-CoV-2 infection, while 86 (36.9%) were asymptomatic. The main referred symptoms were fever (n = 68, 46.3%), headache (n = 42, 28.6%), anosmia (n = 40, 27.2%), rhinitis (n = 34, 23.1%), ageusia (n = 32, 21.8%), cough (n = 22, 15%), asthenia (n = 21, 14.3%), arthralgia-myalgia (n = 20, 13.6%), sore throat (n = 14, 9.5%) and gastrointestinal symptoms (n = 9, 6.1%). No child presented evidence of cardiopulmonary function impairment after an average time of 76.1 days (SD 39.2) from SARS-CoV-2 swab positivity and a median of 68 days (IQ1 49, IQ3 98). - Conclusion - This study suggests that the diagnostic yield of cardiopulmonary tests before returning to play sports may be very low in the absence of specific symptoms

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.

The QT interval, an electrocardiographic measure reflecting myocardial repolarization, is a heritable trait. QT prolongation is a risk factor for ventricular arrhythmias and sudden cardiac death (SCD) and could indicate the presence of the potentially lethal mendelian long-QT syndrome (LQTS). Using a genome-wide association and replication study in up to 100,000 individuals, we identified 35 common variant loci associated with QT interval that collectively explain ∼8-10% of QT-interval variation and highlight the importance of calcium regulation in myocardial repolarization. Rare variant analysis of 6 new QT interval-associated loci in 298 unrelated probands with LQTS identified coding variants not found in controls but of uncertain causality and therefore requiring validation. Several newly identified loci encode proteins that physically interact with other recognized repolarization proteins. Our integration of common variant association, expression and orthogonal protein-protein interaction screens provides new insights into cardiac electrophysiology and identifies new candidate genes for ventricular arrhythmias, LQTS and SCD

Esperienze di Benessere e Malessere professionale tra i coordinatori di servizi per bambini e famiglie in situazioni di vulnerabilit\ue0. Analisi quanti-qualitativa con finalit\ue0 formativa

2Esperienze di Benessere e Malessere professionale tra i coordinatori di servizi per bambini e famiglie in situazioni di vulnerabilità. Analisi quanti-qualitativa con finalità formativa IRIS.nonemixedaggiunti abstract e keywords provvisori D.F. (28/06/2022)Bobbo, Natascia; Ius, MarcoBobbo, Natascia; Ius, Marc