BackgroundRASopathies 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.MethodsA 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.ResultsForty‐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.ConclusionsPatients 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.

Calves are born almost agammaglobulinemic and thus need an adequate amount of good quality colostrum to avoid failure of passive transfer of passive immunity. The quality of colostrum is influenced by several factors such as the volume of colostrum produced, collection time, the concentration of immunoglobulins, breed, the age of dam, and mastitis events in the previous lactation. In this study, we evaluated the relationship between colostrum quality, serum total protein (TP), birth, and weaning weight of the calf.Seventy-three calves born in the same farm were included in the study. Three liters of colostrum were administered to the calves as soon as the calf could drink while the other 3 L was administered 8 hours later. Immediately after birth, and at 60 days of age, each calf was weighed. Colostrum was evaluated after calving by a qualified operator using an optical Brix refractometer. Twenty-four hours after birth, 10 mL of blood was collected from each calf in order to evaluate the absorption of immunoglobulins serum TP using a digital refractometer. The relationship between colostrum quality, serum TP, birth and weaning weight was analyzed using a mixed linear model.Colostrum quality increased with parity; serum TP increased in association with an increase in the Brix percentage quality of the colostrum administered to the calves. Data indicated that heavier calves had a lower TP at 24 hours of age than lighter calves under the same colostrum transfer protocol of 6 liters of quality colostrum in 12 hours. Serum TP (g/dL) decreased continuously in all calves from 8.267 by 0.032 x kg of birth weight.The birth weight of the calves could influence the quantity of colostrum necessary to achieve the same level of TP, so heavy calves should be fed more. Further studies would be necessary in order to evaluate the mechanism of IgG absorption in the gut of calves with different body weight. In addition, the volume of heavy calves is likely the reason for this difference. Consequently, in order to achieve the same level of mass action passive activity, heavy calves should be fed more.

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Background: The impact of genetic syndromes on cardiac magnetic resonance imaging (cMRI) parameters, particularly on right and/or left ventricular dysfunction, associated with clinical parameters following the repair of Tetralogy of Fallot (rToF) is not well known. Therefore, this study aimed to assess the differences in clinical, surgical, and cMRI data in syndromic and non-syndromic rToF patients. Methods: All syndromic rToF patients undergoing a cMRI without general anesthesia between 2010 and 2020 who were able to match with non-syndromic ones for birth date, sex, type of surgery, timing of cMRI, and BSA were selected. Demographic, clinical, surgical, MRI, ECG, and Holter ECG data were collected. Results: A total of one hundred and eight rToF patients equally subdivided into syndromic and non-syndromic, aged 18.7 ± 7.3 years, were studied. Del22q11.2 and Down syndrome (DS) were the most frequent syndromes (42.6% and 31.5%, respectively). Regarding the cMRI parameters considered, left ventricular (LV) dysfunction (LVEF < 50%) was more frequently found in syndromic patients (p = 0.040). In addition, they were older at repair (p = 0.002) but underwent earlier pulmonary valve replacement (PVR) (15.9 ± 5.6 vs. 19.5 ± 6.0 years, p = 0.049). On multivariate Cox regression analysis, adjusted for age at first repair, LV dysfunction remained significantly more associated with DS than del22q11.2 and non-syndromic patients (HR of 5.245; 95% CI 1.709–16.100, p = 0.004). There were only four episodes of non-sustained ventricular tachycardia in our cohort. Conclusions: Among the cMRI parameters commonly taken into consideration in rToF patients, LV dysfunction seemed to be the only one affected by the presence of a genetic syndrome. The percentage of patients performing PVR appears to be similar in both populations, although syndromic patients were older at repair and younger at PVR. Finally, the number of arrhythmic events in rToF patients seems to be low and unaffected by chromosomal abnormalities.