[Fetal aortic valvuloplasty in a patient with critical, congenital aortic valve stenosis and severe left ventricular dysfunction]. / Valvuloplastica aortica fetale per disfunzione ventricolare sinistra secondaria a stenosi valvolare aortica congenita critica.

We present a case of prenatal diagnosis of critical congenital aortic valve stenosis with progressive systolic left ventricular failure. An ultrasound-guided balloon aortic valvuloplasty was performed at 28 weeks of gestational age because of left ventricular dysfunction associated with signs of fetal heart failure. There were no significant post-procedural complications and the pregnancy was carried to term with elective cesarean section at 38 weeks of gestational age. At birth, an echocardiogram showed severe aortic valve stenosis with global hypokinesia of the left ventricle. Therefore a percutaneous balloon aortic valvuloplasty was repeated through transseptal approach with prompt improvement of the antegrade aortic flow and of the left ventricular systolic function. The baby is currently 2 months old and he is doing fine.

Cardiac magnetic resonance using fused 3D cine and 4D flow sequences:Validation of ventricular and blood flow measurements.

PURPOSE: Current cardiovascular magnetic resonance (CMR) examinations require expert planning, multiple breath holds, and 2D imaging. To address this, we sought to develop and validate a comprehensive free-breathing 3D cine function and flow CMR examination using a steady-state free precession (SSFP) sequence to depict anatomy fused with a spatially registered phase contrast (PC) sequence for blood flow analysis. METHODS: In a prospective study, 25 patients underwent a CMR examination which included a 3D cine SSFP sequence and a 3D cine PC (also known as 4D flow) sequence acquired during free-breathing and after the administration of a gadolinium-based contrast agent. Both 3D sequences covered the heart and mediastinum, and used retrospective vectorcardiogram gating (20 phases/beat interpolated to 30 phases/beat) and prospective respiratory motion compensation confining data acquisition to end-expiration. Cardiovascular measurements derived from the 3D cine SSFP and PC images were then compared with those from standard 2D imaging. RESULTS: All 3D cine SSFP and PC acquisitions were completed successfully. The mean time for the 3D cine sequences including prescription was shorter than that for the corresponding 2D sequences (21 min vs. 36 min, P-value <0.001). Left and right ventricular end-diastolic volumes and stroke volumes by 3D cine SSFP were slightly smaller than those from 2D cine SSFP (all biases ≤5%). The blood flow measurements from the 3D and 2D sequences had close agreement in the ascending aorta (bias -2.6%) but main pulmonary artery flow was lower with the 3D cine sequence (bias -11.2%). CONCLUSION: Compared to the conventional 2D cine approach, a comprehensive 3D cine function and flow examination was faster and yielded slightly lower left and right end-diastolic volumes, stroke volumes, and main pulmonary artery blood flow. This free-breathing 3D cine approach allows flexible post-examination data analysis and has the potential to make examinations more comfortable for patients and easier to perform for the operator.

Atypical cardiac defects in patients with RASopathies: Updated data on CARNET study.

BACKGROUND: RASopathies are a set of relatively common autosomal dominant clinically and genetically heterogeneous disorders. Cardiac outcomes in terms of mortality and morbidity for common heart defects (such as pulmonary valve stenosis and hypertrophic cardiomyopathy) have been reported. Nevertheless, also Atypical Cardiac Defects (ACDs) are described. The aim of the present study was to report both prevalence and cardiac outcome of ACDs in patients with RASopathies. METHODS: A retrospective, multicentric observational study (CArdiac Rasopathy NETwork-CARNET study) was carried out. Clinical, surgical, and genetic data of the patients who were followed until December 2019 were collected. RESULTS: Forty-five patients out of 440 followed in CARNET centers had ACDs. Noonan Syndrome (NS), NS Multiple Lentigines (NSML) and CardioFacioCutaneous Syndrome (CFCS) were present in 36, 5 and 4 patients, respectively. Median age at last follow-up was 20.1 years (range 6.9-47 years). Different ACDs were reported, including mitral and aortic valve dysfunction, ascending and descending aortic arch anomalies, coronary arteries dilation, enlargement of left atrial appendage and isolated pulmonary branches diseases. Five patients (11%) underwent cardiac surgery and one of them underwent a second intervention for mitral valve replacement and severe pericardial effusion. No patients died in our cohort until December 2019. CONCLUSIONS: Patients with RASopathies present a distinct CHD spectrum. Present data suggest that also ACDs must be carefully investigated for their possible impact on the clinical outcome. A careful longitudinal follow up until the individuals reach an adult age is recommended.

Data on cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results.

A comprehensive description of morbidity and mortality in patients affected by mutations in genes encoding for signal transducers of the RAS-MAPK cascade (RASopathies) was performed in our study recently published in the International Journal of Cardiology. Seven European cardiac centres participating to the CArdiac Rasopathy NETwork (CARNET), collaborated in this multicentric, observational, retrospective data analysis and collection. In this study, clinical records of 371 patients with confirmed molecular diagnosis of RASopathy were reviewed. Cardiac defects, crude mortality, survival rate of patients with 1) hypertrophic cardiomyopathy (HCM) and age <2 years or young adults; 2) individuals with Noonan syndrome and pulmonary stenosis carrying PTPN11 mutations; 3) biventricular obstruction and PTPN11 mutations; 4) Costello syndrome or cardiofaciocutaneous syndrome were analysed. Mortality was described as crude mortality, cumulative survival and restricted estimated mean survival. In particular, with this Data In Brief (DIB) paper, the authors aim to report specific statistic highlights of the multivariable regression analysis that was used to assess the impact of mutated genes on number of interventions and overall prognosis.

Upside-down position for the out of hospital management of children with supraventricular tachycardia.

BACKGROUND: The upside-down position is a little known modified Valsalva manoeuvre (VM). The aim of this study was to investigate the safety and the efficacy of the upside-down position for the treatment of paroxysmal SVT in children. METHODS: Twenty-four paediatric patients followed for SVT were enrolled. The patients were assigned (1:1) to a standard VM or to an upside-down position at the first episode of SVT at home. If no cardioversion occurred, a second attempt was undertaken with the other VM. At the patient's first relapse, the intervention protocol was applied in the opposite order at home. RESULTS: The upside-down position compared to standard VM reached 67% vs 33% rate of cardioversion at a first attempt, followed by 50% vs 0% rate of cardioversion in patients who had failed the first attempt. After having reversed the order of intervention in case of SVT recurrence, we recorded 67% vs 25% and 71% vs 42% success rates in favour of the upside-down position. There were no adverse events. CONCLUSION: The upside-down position was safe and tended to be more effective than standard VM for out of hospital SVT treatment. Doctors and parents should be more aware of this effective but overlooked manoeuvre.

Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results.

BACKGROUND: RASopathies are developmental disease caused by mutations in genes encoding for signal transducers of the RAS-MAPK cascade. The aim of the present study was to provide a comprehensive description of morbidity and mortality in patients with molecularly confirmed RASopathy. METHODS: A multicentric, observational, retrospective study was conducted in seven European cardiac centres participating to the CArdiac Rasopathy NETwork (CARNET). Clinical records of 371 patients with confirmed molecular diagnosis of RASopathy were reviewed. Mortality was described as crude mortality, cumulative survival and restricted estimated mean survival. Multivariable regression analysis was used to assess the impact of mutated genes on number of interventions and overall prognosis. RESULTS: Cardiac defects occurred in 80.3% of cases, almost half of them underwent at least one intervention. Overall, crude mortality was 0.29/100 patients-year. Cumulative survival was 98.8%, 98.2%, 97.7%, 94.3%, at 1, 5, 10, and 20years, respectively. Restricted estimated mean survival at 20years follow-up was 19.6years. Ten patients died (2.7% of the entire cohort; 3.4% of patients with cardiac defect). Patients with hypertrophic cardiomyopathy (HCM) and age <2years or young adults, as well as subjects with biventricular obstruction and PTPN11 mutations had a higher risk of cardiac death. CONCLUSIONS: The risk of intervention was higher in individuals with Noonan syndrome and pulmonary stenosis carrying PTPN11 mutations. Overall, mortality was relatively low, even though the specific association between HCM, biventricular outflow tract obstructions and PTPN11 mutations appeared to be associated with early mortality, including immediate post-operative events and sudden death.

Endomyocardial biopsy safety and clinical yield in pediatric myocarditis: An Italian perspective.

OBJECTIVES: The objective of this investigation is to evaluate the safety, the impact of endomyocardial biopsy (EMB) results in myocarditis management and the incidence of different etiologies of myocarditis in a pediatric population. BACKGROUND: Although EMB is an established diagnostic tool to evaluate suspected myocarditis, there is lack of clear diagnostic and management guidelines for myocarditis in pediatric patients, particularly in infants. METHODS: We performed a retrospective database review and subsequent outcomes analysis from five Italian pediatric cardiology centers to identify patients aged 0-18 years who underwent EMB for suspected myocarditis or inflammatory cardiomyopathy (ICMP) between 2009 and 2011. RESULTS: EMB was performed in 41 children, of which 16 were male. The population ranged between 16 days of age to 17 years (mean age at EMB = 5.2 ± 4.9 years). The overall incidence of EMB-related complications was 15.5% (31.2% in infants, and 6.8% in children > 1 year of age; P = 0.079) while the incidence of EMB-driven treatment changes was 29.2%. Histological examination together with PCR on heart biopsy specimens allowed an etiological diagnosis in 26/41 patients (63%). Among the 15 patients (36.5%) with diagnosis of dilated cardiomyopathy (DCM) 11 had idiopathic DCM. Finally, we found an overall incidence of death/cardiac transplantation of 24%. CONCLUSIONS: In a pediatric population with suspected myocarditis/ICMP, EMB was useful in confirming the diagnosis only in 41% of cases but showed an overall diagnostic power of 63%. As complications of EBM are not negligible, particularly in infants, the risk/benefit ratio should be taken into account in each patient.

Frequency of Intracranial Aneurysms Determined by Magnetic Resonance Angiography in Children (Mean Age 16) Having Operative or Endovascular Treatment of Coarctation of the Aorta (Mean Age 3).

Coarctation of the aorta (CofA) has been associated with an increased risk of intracranial aneurysm (IA). This magnetic resonance angiography (MRA) study investigates the prevalence of IAs in 80 children treated in early life for CofA. MRA was performed at mean age of 15.7 ± 7.1 years, and surgical or endovascular treatment for CofA occurred at a mean age of 2.6 ± 4.4 years. No IA was found. In contrast with earlier findings in adult patients with late treatment for CofA, this first systematic study of very early treated patients for CofA failed to confirm the association between CofA and IAs. Our results call the abnormal developmental relation between CofA and IAs into question and suggest that modifiable risk factors like hypertension may be responsible for IA development in patients with CofA with adult diagnosis and treatment. In conclusion, our data suggest that early treatment of CofA can reduce the formation of IAs in children so as to make MRA screening less valuable in this young population.

Lack of correlation between metallic elements analyzed in hair by ICP-MS and autism.

A cross-sectional case-control study was carried out to evaluate the concentrations of metallic elements in the hair of 44 children with diagnosis of autism and 61 age-balanced controls. Unadjusted comparisons showed higher concentrations of molybdenum, lithium and selenium in autistic children. Logistic regression analysis confirmed the role of risk factor for male gender and showed a slight association with molybdenum concentrations. Unconventional chelation and vitamin-mineral supplementation were ineffective on elemental hair concentrations. A meta-analysis including the present and previous similar studies excluded any association of autism with hair concentrations of mercury, cadmium, selenium, lithium and copper. A slight association was found for lead only, but it was very weak, as strictly dependent on the worst data from one study.