Silvia Ghiglia

Analysis of congenital heart defects in 87 consecutive patients with Brachmann-de Lange syndrome.

Congenital heart defects (CHDs) have been estimated to occur in ∼20% of patients with Brachmann‐de Lange syndrome (BDLS, also known as Cornelia de Lange syndrome, OMIM 122470). We report on the results of a prospective echocardiographic evaluation of a cohort of 87 Italian BDLS patients with longitudinal follow‐up from 5 to 12 years. A cardiac anomaly was identified in 29/87 (33.3%) including 28 (32.2%) patients with a structural CHD, and an additional patient (1.2%) with isolated non‐obstructive hypertrophic cardiomyopathy (HCM). Of the 28 patients with a CHD, 12 (42.9%) had an isolated obstructive CHD, 10 of which were pulmonary stenosis (36%), 8 (28.6%) had an isolated left to right shunt, and the remainder showed a combination of structural anomalies. Overall incidence of pulmonary stenosis was 39% (11/28). Isolated late‐onset mitral or tricuspid valve dysplasia, albeit hemodynamically insignificant, was detected at follow‐up examination in 4 (14.3%) patients older than 10 years, previously known to be normal. In contrast to previous studies, only two patients required surgery, one for closure of a large perimembranous ventricular septal defect (VSD) and associated ASD closure (1), and another for VSD closure and relief of pulmonary valve stenosis (1). The remainder are receiving medical follow‐up. We believe that the overall frequency (33.3%) and evidence of 4 late onset dysplastic valves anomalies justifies both echocardiographic assessment in all BDLS patients at the first diagnostic assessment, and later on during medical follow‐up.

Altered cardiac rhythm in infants with bronchiolitis and respiratory syncytial virus infection

BackgroundAlthough the most frequent extra-pulmonary manifestations of respiratory syncytial virus (RSV) infection involve the cardiovascular system, no data regarding heart function in infants with bronchiolitis associated with RSV infection have yet been systematically collected. The aim of this study was to verify the real frequency of heart involvement in patients with bronchiolitis associated with RSV infection, and whether infants with mild or moderate disease also risk heart malfunction.MethodsA total of 69 otherwise healthy infants aged 1-12 months with bronchiolitis hospitalised in standard wards were enrolled. Pernasal flocked swabs were performed to collect specimens for the detection of RSV by real-time polymerase chain reaction, and a blood sample was drawn to assess troponin I concentrations. On the day of admission, all of the infants underwent 24-hour Holter ECG monitoring and a complete heart evaluation with echocardiography. Patients were re-evaluated by investigators blinded to the etiological and cardiac findings four weeks after enrolment.ResultsRegardless of their clinical presentation, sinoatrial blocks were identified in 26/34 RSV-positive patients (76.5%) and 1/35 RSV-negative patients (2.9%) (p < 0.0001). The blocks recurred more than three times over 24 hours in 25/26 RSV-positive patients (96.2%) and none of the RSV-negative infants. Mean and maximum heart rates were significantly higher in the RSV-positive infants (p < 0.05), as was low-frequency power and the low and high-frequency power ratio (p < 0.05). The blocks were significantly more frequent in the children with an RSV load of ≥100,000 copies/mL than in those with a lower viral load (p < 0.0001). Holter ECG after 28 ± 3 days showed the complete regression of the heart abnormalities.ConclusionsRSV seems associated with sinoatrial blocks and transient rhythm alterations even when the related respiratory problems are mild or moderate. Further studies are needed to clarify the mechanisms of these rhythm problems and whether they remain asymptomatic and transient even in presence of severe respiratory involvement or chronic underlying disease.

Differences between office and ambulatory blood pressures in children and adolescents attending a hospital hypertension clinic.

Background and objectives: Information on ambulatory blood pressure monitoring (ABPM) in children is scarce. While in adults office BP (OBP) is higher than ABP and the difference increases as OBP increases, information in children suggests that at this young age ABP is no lower and often higher than OBP. This study was aimed at describing OBP–ABP differences in a cohort of children of different ages and BPs, and investigating whether OBP–ABP differences are dependent on age or OBP level. Methods: We retrospectively compared OBP and 24-h, daytime and night-time ABP in 433 children and adolescents aged 4–18 years, referred to our hospital clinic. Results: OBP was found to be significantly lower than 24-h and daytime ABP in the low age tertile (4–10 years) but not in the medium and high tertiles. OBP was also lower than ABP in normotensive patients (n = 182), but higher than ABP in untreated hypertensive patients (n = 92) despite similar ages. Continuous analyses showed a weak correlation of OBP–ABP differences with age, and a much stronger correlation with OBP so that 24-h ABP was higher than OBP at OBP values less than 117/73 mmHg and lower than OBP at higher OBP values. Logistic regression analysis indicates that also in children OBP accounts for most of the OBP–ABP difference. Conclusion: There is a common relation both in children and adults between OBP and ABP. It is only because high OBP is common in the elderly, and the lowest OBP is usually found in young children that large positive OBP–ABP differences have been associated with old age, and negative differences with childhood. OBP–ABP differences, often defined as white-coat effect, can have different directions and are likely to be largely due to regression to the mean.

A simplified antihypertensive drug regimen does not ameliorate control of childhood hypertension

A simplified antihypertensive drug regimen does not ameliorate control of childhood hypertension

Hypertension in children and adolescents.

In their very interesting newsletter dealing with the often-neglected issue of arterial hypertension in children and adolescents Lurbe and Rodicio [1] suggest the use of the Task Force data tables to define normal, high–normal and high blood pressure [2]. Normal blood pressure is defined as a systolic and diastolic blood pressure less than the 90th percentile for age, sex and height. High normal blood pressure or borderline hypertension is defined as a blood pressure between the 90th and 95th percentiles for age, sex and height. Finally, aterial hypertension is defined as a blood pressure greater than or equal to the 95th percentile for age, sex and height, measured on at least three separate occasions [2].

MULTIPLE SPOT URINE SAMPLING IS MORE PRECISE, ACCURATE AND SIMPLE COMPARED TO 24 HOURS COLLECTION FOR ESTIMATING SODIUM EXCRETION

Objective: The 24 hours urinary collection (24-hrsUC)that is the standard of care to estimate Sodium (Na) intake in the management of HPT, can be inaccurate because of errors in time and/or volume, unpractical and when done during weekends, not representative of usual Na intake. Multiple spot urine sampling is not affected by any of the above mentioned sources of error. We hypothesized that the mean urinary Sodium-to-urinary Creatinine ratio (uNa-to-uCrR) of multiple spot samples, collected in different days, is more precise and accurate for estimating the average Na excretion compared to 24-hrsUC. Design and method: A total of 180 urine samples (1 for each voiding) and the related 30 24-hrsUC performed in different days in 4 heathy subjects (up to nine voiding per day) were collected. For the purpose of comparison, uNa excretion in mEq/Kg/day from each sample was derived multiplying by 2 each uNa-to-uCrR (the mean conversion constant obtained from all ratios as determined from 24-hrsUCs). We calculated Lins correlation coefficient, mean bias, and 95% limits of agreement (LOA), of uNa for: the single 24-hrsUC and 1000 random samples of means of 4 spot urine samples (1 per subject in 4 different days) using the individual overall 24-hrsUC average as reference in both. Statistical analysis was performed using Stata 15 Results: 1) The single 24-hrs-UC urine collections showed a Lins coefficient of 0.64, with 95% limits of agreement (LOA) of + 1.65 mq/Kg/die (difference between upper and lower LOA: 3.29). 2) In the 1000 random samples the average Lins coefficient was 0.72 (SE: 0.23). Mean bias and 95% LOA were 0.21, −1.06, and 1.48, respectively, while mean difference between upper and lower LOA was 2.54. Lins coefficient was greater than 0.64 in 76.6% of samples. Difference between upper and lower LOA was smaller than 3.29 in 81.0% of samples t The mean uNa-to-sCrR from 4 spot samples estimates Na excretion more precisely and accurately than a single 24-hrsUC. providing a more reliable estimate in as many as 81% determinations as compared to only 19%