1,721,008 research outputs found
Congenital superior caval vein aneurysm in a newborn with cystic lymphangioma: a rare case report
No full textDilatation of the superior caval vein is extremely rare, with few cases described among newborns. The association of aneurysm of the superior caval vein and lymphatic malformation is extremely uncommon. We report a case of a female infant with a prenatal diagnosis of superior caval vein aneurysm presenting at birth with a neck mass that was found to be a cystic lymphangioma
Cardiovascular disease in Down syndrome
No full textIn the last 40 years, with a better understanding of cardiac defects, and with the improved results of cardiac surgery, the life expectancy of persons with Down syndrome has significantly increased. This review article reports on advances in knowledge of cardiac defects and cardiovascular system of persons with trisomy 21
Surgical Outcomes for Patients with Turner Syndrome.
No full textTo the Editor,
We read with great interest the report by Cramer et al. [3] on the spectrum of congenital heart disease (CHD) and outcomes after surgical repair in children with Turner syndrome (TS). In their retrospective single-center review, the authors showed that although patients with TS undergoing aortic arch repair have a longer operative and postoperative course, their outcomes appear similar to those of non-TS subjects.
Recent papers [1, 8] have identified a vasculopathy in TS patients involving intimal and medial thickening of large arteries that can lead to progressive aortic dilation, dissection, and even rupture. These arterial characteristics can explain the friability of the aortic wall, with higher risk of hemorrhages at surgery [2, 9] and after stent implantation [4] as described in the literature. It is noteworthy that although these findings constitute a potential increased risk of surgical complications, no patients reported by Cramer et al. [3] died due to the intervention, and only one patient required early reintervention for recoarctation.
In line with these results, we observed the same outcome in our small cohort of six TS patients who underwent surgical coarctation repair. No surgical mortality or morbidity occurred, and during the long-term follow-up period, none of the patients had a residual systolic pressure gradient higher than 10 mmHg detected by serial echocardiography.
Currently, overall data [2, 3, 9] suggest that the association with TS is not a specific risk factor for mortality among patients who have undergone surgery for aortic coarctation. However, specific caution should be observed relative to the possibility of perioperative bleeding and “a more challenging early postoperative course” [3].
Moreover, as reported in our recent study [10], it is important to consider that these patients can have not only cardiovascular malformations but also an impaired cardiopulmonary response to exercise and impaired systolic and diastolic function of the left ventricle. These further findings can be considered a specific cardiac phenotype of TS subjects and may represent additional risk factors for perioperative complications or for postoperative morbidity.
Studies increasingly report on perioperative outcomes for patients with CHD and genetic syndromes such as trisomy 21 and del 22q11.2 with the aim of detecting the impact not only of specific anatomic cardiac patterns but also of extracardiac anomalies on the intensive care unit stay and surgical results [6, 7]. We underscore the necessity of recognizing specific surgical risk factors for syndromic patients with CHD that can lead to the preparation of specific diagnostic and perioperative protocols to reduce operative mortality and morbidity. The stratification of risks based on genotyping is an encouraging perspective in cardiovascular medicine, and the shift from a genotype–phenotype correlation toward a genotype prognosis paradigm currently is available also in pediatric cardiology [5]
A double-blind, placebo-controlled randomized trial to evaluate the efficacy of docosahexaenoic acid supplementation on hepatic fat and associated cardiovascular risk factors in overweight children with nonalcoholic fatty liver disease
No full textAbstract Background and Aims: Very little information is available on whether docosahexaenoic
acid (DHA) supplementation has a beneficial effect on liver fat and cardiovascular disease (CVD)
risk factors in children with nonalcoholic fatty liver disease (NAFLD). In a double-blind, placebocontrolled
randomized trial we investigated whether 6-month treatment with DHA improves
hepatic fat and other fat depots, and their associated CVD risk factors in children with biopsyproven
NAFLD.
Methods and Results: Of 58 randomized children, 51 (25 DHA, 26 placebo) completed the study.
The main outcome was the change in hepatic fat fraction as estimated by magnetic resonance
imaging. Secondary outcomes were changes in visceral adipose tissue (VAT), epicardial adipose
tissue (EAT), and left ventricular (LV) function, as well as alanine aminotransferase (ALT), triglycerides,
body mass index-standard deviation score (BMI-SDS), and insulin sensitivity. At 6
months, the liver fat was reduced by 53.4% (95% CI, 33.4e73.4) in the DHA group, as compared
with 22.6% (6.2e39.0) in the placebo group (P Z 0.040 for the comparison between the two
groups). Likewise, in the DHA group VAT and EAT were reduced by 7.8% (0e18.3) and 14.2% (0
e28.2%), as compared with 2.2% (0e8.1) and 1.7% (0e6.8%) in the placebo group, respectively
(P Z 0.01 for both comparisons). There were no significant between-group changes for LV function
as well as BMI-SDS and ALT, while fasting insulin and triglycerides significantly decreased in
the DHA-treated children (P Z 0.028 and P Z 0.041, respectively).
Conclusions: DHA supplementation decreases liver and visceral fat, and ameliorates metabolic
abnormalities in children with NAFLD
Left ventricular non compaction with aortic valve anomalies: A recurrent feature of 22q11.2 distal deletion syndrome
No full textTransposition of the great arteries. Some gleams of light to pathogenetic knowledge
No full textTransposition of the great arteries (TGA) is a frequent and severe cardiac defect. In patients with this malformation, diagnostic and surgical results and the long-term prognosis significantly improved in the last years. From the embryological point of view there are two main theories: 1) the anomalous infundibular rotation, and 2) the anomaly of the aortico-pulmonary septum. Both of them still present important limits. Moreover, TGA is difficult to reproduce by animal experiments, but interesting data, using retinoid acid in pregnant rats, are nowadays available, as well as there are interesting data from the epidemiologic studies on human teratologic agents. TGA is rarely associated with genetic syndromes and with additional extracardiac anomalies. A few cases are in relation with DiGeorge syndrome with deletion of chromosome 22q11. On the contrary TGA is significantly prevalent, in association with other cardiac and extracardiac anomalies, in children with lateralization defects, heterotaxy and asplenia syndrome (right isomerism). However in patients with heterotaxy and polysplenia syndrome (left isomerism) TGA is significantly more rare. In mice with mutation of Smad2 and NODAL, two genes involved in the lateralization process, some cases of TGA, with or without right isomerism of the lungs, were reported. Moreover, in families with heterotaxy some cases with congenitally corrected TGA were reported and a new gene associated with heterotaxy, CRYPTIC, can present mutations in patients with "isolated" TGA. A recent study on familiar recurrence of TGA shows in the same family some cases of TGA and of corrected TGA so that a monogenic inheritance (autosomic dominant or recessive) with variable phenotypic expression can be suggested. The normal righthand spiralization of the heart is genetically determined in cases of situs solitus and d-loop of the ventricles. This pattern is not present in cases of TGA presenting a parallel position of the great arteries. On the basis of these observations and according to new epidemiologic and genetic data some cases of TGA should be classified in the group of the anomalies of lateralization and ventricular loop. The mystery is still present but perhaps some gleams of light are appearing
Neonatal Marfan Syndrome by Inherited Mutation
No full textViene descritta la clinica di un caso neonatale di classica sindrome di Marfan familiare con mutazione nota del gene FBN
The Heart of Santa Rosa
No full textSanta Rosa is an exceedingly well preserved mummy
dating back to the XIII century BC. It is conserved in the
monastery of the same name, Santa Rosa, located in
Viterbo, near Rome.1 In 1995, the Section of Anthropology
of the State University “G. d’Annunzio” of Chieti was
entrusted with the preservation of the mummified body.
Scientific examination provided an opportunity to collect
anthropological and pathological data using modern
techniques. Examination has confirmed that Santa Rosa
was a gracile girl, who died at the age of 18-19 years.1
Investigations showed total agenesis of the sternum–a
variant of Cantrell’s Syndrome. We examined the heart of
Santa Rosa, which was removed from her chest in 1921.1
The heart of Santa Rosa is a mummified specimen of
small dimensions lacking the great arteries and systemic
and pulmonary veins (figure A). External and internal
inspections with a lens and stereomicoscope, and
radiography were done (figure B). Although the posterior
walls of the atria had already been removed, the
appendages suggest situs solitus of the atria and the
morphology of the ventricles indicate atrioventricular
concordance with d-loop of the ventricles. The apex of
the heart is bifid due to a diverticulum of the left ventricle.
The low intensity radiograph shows a right deviation of
the ventricular septum and the presence of a mass,
probably a thrombus, between the apex of the left
ventricle and the entry of the diverticulum. Ventricular
diverticulum is one of the most frequent heart defects
described in patients with Cantrell syndrome and is
frequently associated with development of thrombus and
subsequent embolisation. It has been suggested that
Santa Rosa died of tuberculosis. However, biomolecular
and paleopathological analyses of the mummy1 showed
no evidence that an infectious chronic disease occurred
in vitam. The present data suggest that a cardiac
embolism could have been the cause of her death
Association of nonalcoholic fatty liver disease with subclinical cardiovascular changes: A systematic review and meta-analysis
Full text linkIn the last 20 years, nonalcoholic fatty liver disease (NAFLD) has become the leading cause of chronic liver disease worldwide,
primarily as a result of the epidemic of obesity. NAFLD is strongly associated with insulin resistance, glucose intolerance, and
dyslipidemia and is currently regarded as the liver manifestation of the metabolic syndrome, a highly atherogenic condition even
at a very early age. Patients with NAFLD including pediatric subjects have a higher prevalence of subclinical atherosclerosis, as
shown by impaired flow-mediated vasodilation, increased carotid
artery intima-media thickness, and arterial stiffness, which are
independent of obesity and other established risk factors. More recent work has identified NAFLD as a risk factor not only for
premature coronary heart disease and cardiovascular events, but also for early subclinical abnormalities in myocardial structure
and function. Thus, we conducted a systematic review and meta-analysis to test the hypothesis that NAFLD is associated with
evidence of subclinical cardiac structural and functional abnormalitie
Cardiac involvement in children with IBD during infliximab therapy
Full text linkCardiac involvement in children with IBD during infliximab therapy
- …
