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(1) Objective: To evaluate: (i) the associations of age and disease severity with anthropometric indices and weight status, (ii) the difference in the frequency of sports activity among different levels of disease severity in paediatric patients with congenital heart disease (CHD). (2) Methods: Clinical data of Caucasian children (aged 2-18 years) diagnosed with CHD (2005-2018) were retrospectively collected from the electronic register of outpatient visits. Of the 475 children with CHD, 368 children and their 1690 complete anthropometric measurements were eligible for inclusion in our analysis. (3) Results: Significant increase with age was observed for weight z-score [beta (95%CI): 0.03 (0.02, 0.05) for one-unit of age] and BMI z-score [0.06 (0.03, 0.08)] but not for height z-score. The probability of being underweight and overweight/obese increased and decreased with disease severity, respectively. The obesity probability of patients with mild CHD (0.06 [95%CI: 0.03, 0.08]) was not statistically distinguishable from that of patients with moderate CHD (0.03 [95%CI: 0.02, 0.05]), whereas it was lower in patients with severe CHD (0.004 [95%CI: 0.0, 0.009]). No obese patients with a univentricular heart defect were observed. Days spent in sport activities were equal to 1.9 [95%CI: 1.6, 2.2] days/week, 1.9 [1.5, 2.2], 1.4 [1.1, 1.7] and 0.7 [0.1, 1.3] in patients with mild, moderate, severe and univentricular CHD, respectively. (4) Conclusions: The risk of being overweight and obese should not be underestimated in paediatric patients diagnosed with CHD, especially in children with mild or moderate heart defects. It could be prevented or reduced by promoting a healthy lifestyle.

Aim: Bicuspid aortic valve (BAV) is the most common congenital heart defect, with considerable risk of morbidity and mortality. The purpose of the study was to analyze clinical and echocardiographic presentation of BAV in a large-volume tertiary Italian center and to test their interaction with full age span, sex, and first diagnosis versus second referral., Methods: Consecutive patients of all ages diagnosed with BAV at our center from January 1988 to December 2012 were retrospectively included. Exclusion criteria were as follows: associated complex congenital cardiac disease, systemic syndrome, and previous cardiac surgery., Results: Eligible patients were 790, divided by age quartiles. Seventy-two percent of patients had any grade BAV dysfunction. Aortic valve stenosis was more frequent in the first (24%) and fourth (24%) quartiles. This corresponds to a double-peak stenosis severity curve, being more severe at a very young age and in the elderly. Aortic valve regurgitation was more prevalent in each quartile than stenosis, with a prevalence of 72% in the second quartile and 77% in the third quartile. This corresponds to a single-peak regurgitation severity curve, being more severe in the fourth and fifth decades of life. Patients with previously diagnosed BAV had more significant valve dysfunction in comparison to patients with first diagnosis of BAV, either stenosis (15% vs. 21%, P = 0.024) or regurgitation (58% vs. 68%, P = 0.006)., Conclusion: The dominant BAV dysfunction in this large Northern Italian community is regurgitation, with higher severity of disease in the fourth and fifth decades of life., Competing Interests: There are no conflicts of interest., (Copyright: © 2021 Journal of Cardiovascular Echography.)

Background: Arterial tortuosity syndrome (ATS) (OMIM #208050) is a rare autosomal recessive connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries, propensity to aneurysms formation, vascular dissection, and pulmonary arteries stenosis. ATS is caused by mutations in SLC2A10 gene, encoding for the facilitative glucose transporter 10 (GLUT10). So far, 17 SLC2A10 mutations have been reported in 32 families, two of which were Italian with a total of five patients. Here we present the clinical and molecular characterization of two novel Italian paediatric ATS patients., Methods: The exons and intronic flanking regions of SLC2A10 gene were amplified and direct sequencing was performed., Results: In both patients, the involvement of major- and medium-sized arteries was characteristic; the nonvascular connective tissue manifestations were mild and not pathognomic of the disorder. Both patients, born from non-consanguineous parents, were heterozygous for two different SLC2A10 mutations, three of which were recurrent and one was novel (p.Arg231Trp). This mutation is localized at the endofacial loop between the transmembrane domains 6 and 7 of GLUT10., Conclusion: Two novel ATS patients were characterized at clinical and molecular level. Overall, four ATS unrelated families are known in Italy so far. Though ATS clinical delineation improved in the last years, further works in the comprehension of disease presentation and complications onset, particularly in paediatric age, and on ATS molecular basis are needed to add new insights for diagnosis and prevention strategies for related complications.

Neonatal fungal valve endocarditis is an uncommon and highly lethal disease. The ideal management strategy is still controversial. Current options include antifungal chemotherapy and surgical intervention, the latter being often limited by risks inherent with valve operations in low body weight infants. We present a case of a premature infant with multiple Candida tricuspid valve mycetomas. Eradication of infection was achieved by combined liposomal amphotericin therapy and complex tricuspid valve repair. Indications, technical aspects, and outcome of treatment in infants are reviewed.

Background: The Ross operation is an alternative to mechanical aortic valve replacement in the young. Early dilatation of the pulmonary autograft root exposed to the systemic circulation has been reported. To define the prevalence of, risk factors for, and consequences of late autograft dilatation, outcome in all consecutive patients operated since May 1994 was reviewed., Methods and Results: Ninety one patients, 77 males and 14 females, with at least 1 year of follow-up underwent cross-sectional clinical and echocardiographic examination. Age at operation was 27+/-10 years (range 6 to 49), and the indication was aortic regurgitation in 54 (59%) patients and bicuspid valve was present in 62 (68%). End-points of the study were freedom from autograft dilatation (root diameter >4 cm or 0.21 cm/m2), from (moderate) autograft regurgitation and from reoperation. Follow-up (4.0+/-1.9, range 1 to 8 years) autograft root diameters were anulus, 29+/-4 mm (18-39); sinus of Valsalva, 38+/-7 mm (24-53); sinotubular junction, 37+/-6 mm (23-54); and ascending aorta, 37+/-5 mm (27-54). Late autograft dilatation was identified in 31 (34%) patients and regurgitation in 13 (14%), 7 of whom had autograft dilatation. At 7 years, freedom from dilatation was 42+/-8%, freedom from regurgitation was 75+/-8%, and freedom from reoperation was 85+/-10%. Cox proportional hazard analysis identified younger age (P=0.05), preoperative sinus of Valsalva (P=0.02), root replacement technique (P=0.03), and absence of pericardial buttressing (P=0.04) as predictive of autograft dilatation, whereas female sex (P=0.002), follow-up sinus of Valsalva (P=0.003), and sinotubular junction diameter (P=0.02) as predictive of autograft regurgitation., Conclusions: Autograft dilatation is common late after the Ross procedure, particularly in younger patients, in those with preoperative aortic aneurysm, and those having root replacement without support of anulus and sinotubular junction. Bicuspid aortic valve is not a risk factor. Significant autograft valve dysfunction affects a minority of patients, but it is more prevalent in those with autograft dilatation.

Objectives: The objective was to analyze the accuracy and diagnostic value of the estimated regurgitant volume of mitral regurgitation using 1) left atrial volume variation during ventricular systole (left atrial filling volume) and 2) the percent of systolic pulmonary vein velocity integral compared with its total., Background: Left atrial filling volume (LAfill), which represents the atrial volume variation during ventricular systole, has been used for the assessment of mitral regurgitation severity. A good correlation with invasive semiquantitative evaluation was found, but with an unacceptable overlapping among grades. The reason could be the absence of information concerning the contribution of blood entering into the left atrium from the pulmonary veins., Methods: Doppler regurgitant volume (Dpl-RVol) (mitral stroke volume - aortic stroke volume) was measured in 30 patients with varying degrees and etiological causes of mitral regurgitation. In each patient atrial volumes were measured from the apical view, using the biplane area-length method. The systolic time-velocity integral of pulmonary vein flow was expressed as a percentage of the total (systolic-diastolic) time-velocity integral (PVs%). These parameters were used in this group of patients to obtain an equation whose reliability in estimating Dpl-RVol was tested in a second group of patients., Results: In the initial study group, with linear regression analysis the following parameters correlated with Dpl-RVol: end-systolic left atrial volume (R2=0.37, p=0.0004); LAfill (R2=0.45, p < 0.0001); PVs% (R2=0.56, p < 0.0001). In multiple regression analysis the combination of LAfill and the percent of the systolic pulmonary vein velocity integral (PVs%) provided a more accurate estimate of regurgitant volume (R2=0.88; SEE 10.6; p < 0.0001; Dpl-RV=6.18 + (1.01 x LAfill) - (0.783 x PVs%). The equation was subsequently tested in 54 additional patients with mitral regurgitation with a mean Dpl-RVol 27+/-37 ml. Estimated regurgitant volume and Dpl-RVol correlated well with each other (R2=0.90; SEE 12.1; p < 0.0001). In the test population, the equation was 100% sensitive and 98% specific in detecting a regurgitant volume higher than 55 ml., Conclusions: Left atrial filling volume and pulmonary vein flow give a reliable estimate of regurgitant volume in mitral regurgitation.

Prostaglandin E1 improves hemodynamics in patients with severe dilated cardiomyopathy and pulmonary hypertension through it's reducing action on pulmonary resistances. However, few data are available to indicate whether these beneficial effects on right heart hemodynamics translate into any improvement of the altered left ventricular filling pattern that characterizes this condition. We studied 12 patients with dilated cardiomyopathy during preoperative evaluation for cardiac transplantation before and after prostaglandin E1, 30-50 ng/kg/min i.v. Patients underwent catheterization of the right heart and left ventricle by Swan-Ganz catheter, giving simultaneous assessment of pressure by micromanometer and of volume derived from two-dimensional echo-guided Doppler mitral flow velocity, where volume equals mitral velocity integral x valvular area. Prostaglandin E1 induced a significant reduction in mean pulmonary (from 38 to 30 mm Hg; p = 0.0001) and aortic (from 79 to 75 mm Hg, p = 0.05) pressures but no change in heart rate or tau. Peak A wave increased from 28 to 33 cm/s (p = 0.02), along with a reduction in end-diastolic pressure from 29 to 26 mm Hg (p < 0.04), whereas peak E wave did not change. E/A ratio decreased slightly (from 2.5 to 2.1; p < 0.0007) but did not reverse. Systolic volumes decreased (from 231 to 212 ml; p < 0.05), and cardiac index increased from 2.1 to 2.6 L/min/m2 (p = 0.0002) because of a reduction in pulmonary and systemic vascular resistances. The diastolic pressure-volume relation shifted downward along the same curve. Prostaglandin E1 infusion in patients with severe dilated cardiomyopathy and pulmonary hypertension reduces pulmonary and systemic resistances without affecting heart rate, relaxation, or passive diastolic left ventricular properties. Systolic right and left ventricular unloading increases cardiac index, facilitating ventricular emptying. E/A ratio does not reverse, although it decreases slightly, with mechanisms, however, that appear independent of any direct effect of the drug on the ventricular diastolic properties.