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Texas Heart Institute Journal May 2024Turner syndrome is a genetic disorder that occurs in female individuals and is characterized by the absence of 1 of the X chromosomes. This study examined the risk of...
BACKGROUND
Turner syndrome is a genetic disorder that occurs in female individuals and is characterized by the absence of 1 of the X chromosomes. This study examined the risk of cardiovascular disease and inpatient clinical outcomes in patients with Turner syndrome.
METHODS
Data were extracted from the Nationwide Inpatient Sample 2016 database. Propensity score analysis was used to match women with Turner syndrome and women without Turner syndrome admitted to a hospital in the same year to evaluate the risk of cardiovascular disease and inpatient clinical outcomes in patients with Turner syndrome.
RESULTS
After 1:1 matching, 710 women with Turner syndrome and 710 women without Turner syndrome were included in the final analysis. Compared with women without Turner syndrome, women with Turner syndrome were more likely to have a bicuspid aortic valve (9.4% vs 0.01%; P < .01), coarctation of the aorta (5.8% vs 0.3%; P < .01), atrial septal defect (6.1% vs 0.8%; P < .01), and patent ductus arteriosus (4.6% vs 0.6%; P < .01). Patients with Turner syndrome were more likely to have an aortic aneurysm (odds ratio [OR], 2.46 [95% CI, 1.02-5.98]; P = .046), ischemic heart disease (OR, 1.66 [95% CI, 1.10-2.5]; P = .02), heart failure (OR, 3.15 [95% CI, 1.99-4.99]; P < .01), and atrial fibrillation or flutter (OR, 2.48 [95% CI, 1.42-4.34]; P < .01). Patients with Turner syndrome were more likely to have pulmonary arterial hypertension (OR, 2.12 [95% CI, 1.08-4.14]; P = .03) and acute kidney injury (OR, 1.60 [95% CI, 1.06-2.42]; P = .03) and to require mechanical ventilation (OR, 1.66 [95% CI, 1.04-2.68]; P = .04).
CONCLUSION
Turner syndrome is associated with an increased rate of cardiovascular disease and inpatient complications. These findings suggest that patients with Turner syndrome should be screened and monitored closely for cardiovascular disease and inpatient complications.
Topics: Humans; Turner Syndrome; Female; Propensity Score; Cardiovascular Diseases; Adult; Retrospective Studies; United States; Middle Aged; Risk Factors; Inpatients; Risk Assessment; Incidence; Follow-Up Studies; Young Adult
PubMed: 38748548
DOI: 10.14503/THIJ-23-8245 -
Cureus Oct 2023Congenital heart disease (CHD) is a common occurrence in live births, with some exhibiting critical congenital heart disease; therefore, cardiology services should be...
BACKGROUND
Congenital heart disease (CHD) is a common occurrence in live births, with some exhibiting critical congenital heart disease; therefore, cardiology services should be available around the clock to ensure timely diagnosis and management. This study aims to describe the workload and the need for pediatric cardiac services in a maternity hospital for newborn referrals. Moreover, the study describes the indications for neonatal cardiology consultations.
METHODS
The prospective cohort study was conducted over four months, from January to April 2022, in the Prince Sultan Cardiac Center Al Qassim region of Saudi Arabia. Prince Sultan Cardiac Center's pediatric cardiology department provides cardiac services to the Maternity and Children Hospital Buraidah Al Qassim. Out of the total 2,606 live births during the study period, the cardiology team evaluated 352 neonates. Neonates less than 30 days of age who were born in the maternity hospital were enrolled in the study. The outborn babies referred from other centers as suspected congenital heart disease for whom a cardiac evaluation was done were excluded. In addition, babies assessed in the emergency room and born elsewhere were excluded. Only new consultations have been considered, excluding follow-up consultations.
STATISTICAL ANALYSIS
Data about patients' demographic, clinical and echocardiographic findings were recorded on Google Forms and converted to a Google spreadsheet. The Google spreadsheet's inbuilt statistical software was used for analysis. Categorical data were presented as percentages, and numerical data as median and range.
RESULTS
The cardiology team evaluated 352 neonates from 2,606 live births over four months, accounting for 13.5 per 100 live births. The median weight was 2.8 kilograms, with a 0.5-4.3 kilogram range. Males comprised 187 (53%), and females comprised 165 (47%). Moreover, full-term, preterm, and post-term accounted for 236 (67%), 113 (32%), and 3 (0.8%) of patients, respectively. The common indications for neonatal cardiac referral were respiratory distress 60 (17%), infants born to diabetic mothers 50 (14%), abnormal fetal echocardiogram 49 (13.9%), family history of abortion or neonatal death 31 (8.8%), and congenital anomalies 30 (8.5%). Systolic murmur was the commonest clinical finding that prompted cardiology referrals 82 (23.2%), followed by desaturation 38 (10.7%) and dysmorphic features 31 (8.8%). Among the congenital cardiac defects, an isolated atrial septal defect (ASD) was seen in 66 (18.5%), isolated patent ductus arteriosus in 50 (14.2%), and ventricular septal defect in 21 (5.9%). Moreover, 13 (4.4%) lesions were critical CHDs. Finally, 27 (7.6%) had a diagnosis of pulmonary hypertension.
CONCLUSION
Knowing the burden of neonatal cardiac assessment on pediatric cardiology services in any maternity center may help the healthcare authorities to allocate resources and optimize the delivery of cardiac services among the neonatal population. Properly allocating pediatric cardiologists to the needed centers may optimize neonatal cardiac services. Moreover, it may decide on the number of pediatric cardiologists that need to be trained each year to meet the requirements of neonatal cardiac services.
PubMed: 37965404
DOI: 10.7759/cureus.47011 -
Diagnostics (Basel, Switzerland) Jul 2023Lung ultrasound (LU) is increasingly used to diagnose and monitor neonatal pulmonary disorders; however, its role in hemodynamically significant patent ductus arteriosus...
Lung ultrasound (LU) is increasingly used to diagnose and monitor neonatal pulmonary disorders; however, its role in hemodynamically significant patent ductus arteriosus (hsPDA) has not been elucidated. This prospective study investigated the predictive value of the LU score (LUS) for hsPDA in preterm infants with gestational age (GA) ≤ 25 weeks. Preterm infants with GA ≤ 25 weeks were enrolled in this study. LU was conducted on the fourth day of life (DOL). Six lung regions in every lung were scanned, with each region rated as 0-4 points. The performance of the LUS in predicting hsPDA among infants aged ≤25 weeks was analyzed by plotting the receiver operating characteristic (ROC) curve. A total of 81 infants were included in this study. GA, birth weight (BW), gender, Apgar score, delivery mode, antenatal steroids, meconium-stained amniotic fluid, premature rapture of membrane, and early-onset sepsis were not significantly different, but infants in the hsPDA group had increased LUS (38.2 ± 2.8 vs. 30.3 ± 4.3, < 0.001) compared with non-hsPDA group. The area under the ROC curve (AUC) value of the LUS on the fourth DOL was 0.94 (95% CI: 0.93-0.99) in predicting hsPDA. The LUS threshold at 33 achieved 89% sensitivity and 83% specificity, with the positive and negative predictive values (PPV and NPV) being 87 and 86%, respectively. The LUS can predict hsPDA in extremely preterm infants at an early stage.
PubMed: 37443657
DOI: 10.3390/diagnostics13132263 -
Diagnostics (Basel, Switzerland) Aug 2023Patent ductus arteriosus (PDA) is frequent in preterm newborns, and its incidence is inversely associated with the degree of prematurity. The first choice of...
Association of the rs7557402 Polymorphism with Hemodynamically Significant Patent Ductus Arteriosus Closure Failure in Premature Newborns under Pharmacological Treatment with Ibuprofen.
Patent ductus arteriosus (PDA) is frequent in preterm newborns, and its incidence is inversely associated with the degree of prematurity. The first choice of pharmacological treatment is ibuprofen. Several genes, including , have been proposed as probable markers associated with a genetic predisposition for the development of PDA in preterm infants. 1 NG_016000.1:g.84131C>G or rs7557402 has been reported to be probably benign and associated with familial erythrocytosis by the Illumina Clinical Services Laboratory. Other variants of have been previously reported to be benign for familial erythrocytosis because they decrease gene function and are positive for familial erythrocytosis because the overexpression of is a key factor in uncontrolled erythrocyte proliferation. However, this could be inconvenient for ductal closure, since for this process to occur, cell proliferation, migration, and differentiation should take place, and a decrease in gene activity would negatively affect these processes. Single-nucleotide polymorphisms (SNPs) in and genes were searched with high-resolution melting and Sanger sequencing in blood samples of preterm infants with hemodynamically significant PDA treated with ibuprofen at the National Institute of Perinatology. The variant rs7557402, present in the gene eighth intron, was associated with a decreased response to treatment ( = 0.007, OR = 3.53). The SNP rs7557402 was associated with an increased risk of pharmacological treatment failure. A probable mechanism involved could be the decreased activity of the product of the gene.
PubMed: 37568921
DOI: 10.3390/diagnostics13152558 -
World Journal of Cardiology Nov 2023Down syndrome, also known as trisomy 21 syndrome, is commonly associated with congenital heart disease, and can often result in early formation of pulmonary...
BACKGROUND
Down syndrome, also known as trisomy 21 syndrome, is commonly associated with congenital heart disease, and can often result in early formation of pulmonary hypertension. The development of pulmonary hypertension can result from factors such as intracardiac and macrovascular shunts, and upper airway obstruction or hypoplasia of lung tissue. Individuals with Down syndrome and congenital heart disease have a significantly lower average life expectancy, with surgical intervention being the most viable treatment option to improve longevity.
CASE SUMMARY
We report the case of a 13-year-old boy with Down syndrome presenting with atrial septal defect and patent ductus arteriosus along with severe pulmonary hypertension. The electrocardiogram shows sinus rhythm and right ventricular hypertrophy. The echocardiogram shows an atrial septal defect with interrupted echo in the interatrial septum, measuring 0.813 cm in length. The patient was initially refused to be offered surgical treatment by many hospitals due to the high surgical risk and pulmonary artery resistance. After discussing the patient's diagnosis and treatment options, we ultimately recommended surgical treatment. However, the patient and their family declined this recommendation and chose to be discharged. During the follow-up period of 6 mo, there were no significant improvements or deteriorations in the patient's condition.
CONCLUSION
In conclusion, this case highlights the challenges faced by individuals with Down syndrome and congenital heart disease complicated by severe pulmonary hypertension. Timely intervention and a multidisciplinary approach are crucial for improving prognosis and life expectancy. Further research is needed to enhance our understanding and develop effective interventions for this population.
PubMed: 38058402
DOI: 10.4330/wjc.v15.i11.615 -
Radiology Case Reports Nov 2023A ductus arteriosus aneurysm is a rare congenital lesion with a localized saccular or tubular dilation of the ductus arteriosus. This lesion usually appears in all ages....
A ductus arteriosus aneurysm is a rare congenital lesion with a localized saccular or tubular dilation of the ductus arteriosus. This lesion usually appears in all ages. Some case reports suggest the most common age of diagnosis is less than 2 months. We reported a case of an asymptomatic ductus arteriosus aneurysm in neonates. Echocardiography at 2 days of age revealed a tubular dilation of the ductus arteriosus connected to the pulmonary artery. Computed tomography angiogram showed a ductus arteriosus aneurysm with thrombus at the pulmonary end. It resolved spontaneously in the six months of life without serious complications.
PubMed: 37663558
DOI: 10.1016/j.radcr.2023.08.050 -
Blalock-Taussig Shunt versus Ductal Stenting as Palliation for Duct-Dependent Pulmonary Circulation.Sultan Qaboos University Medical Journal Dec 2023There is limited data published from outside North America and Europe comparing the outcomes of a modified Blalock-Taussig shunt (MBTS) and ductal stenting as the first...
OBJECTIVES
There is limited data published from outside North America and Europe comparing the outcomes of a modified Blalock-Taussig shunt (MBTS) and ductal stenting as the first palliative procedure for infants with duct-dependent pulmonary circulation. This study reports the National Heart Center's, in Muscat, Oman, experience in comparing the outcomes of these 2 interventions.
METHODS
This retrospective study included all infants with duct-dependent pulmonary circulation who received either a MBTS or ductal stenting from 2016-2019. The primary outcomes were death or re-interventions. Secondary outcomes included death, subsequent re-interventions, survival to subsequent surgical intervention, survival to hospital discharge, post-procedural mechanical ventilation and duration of intensive care unit stay.
RESULTS
A total of 71 patients were included in the study, 33 (46%) of whom received ductal stenting. The prevalence of the primary outcome (death or re-intervention) in the patent ductus arteriosus (PDA) stent group was 54.5% versus 31.6% in the MBTS group but this was not statistically significant ( = 0.06). There was no difference between the 2 groups in terms of time to next surgical intervention ( = 0.233). The PDA stent group had shorter post-procedural, mechanical ventilation and intensive care unit stay durations ( <0.05). Syndromic patients were at higher risk of mortality compared to non-syndromic patients.
CONCLUSION
MBTS and ductal stenting are both acceptable modalities as a palliative intervention for infants with duct-dependant pulmonary circulation. Syndromic patients are at higher risk of mortality. This can be considered an important factor for patient selection.
Topics: Infant; Humans; Blalock-Taussig Procedure; Pulmonary Circulation; Retrospective Studies; Cardiac Catheterization; Palliative Care; Treatment Outcome; Ductus Arteriosus, Patent; Stents
PubMed: 38161753
DOI: 10.18295/squmj.12.2023.073 -
Cureus Sep 2023Surgical repair techniques and management of patients with atrioventricular septal defect (AVSD) have progressed over the last few decades. Early and definitive...
BACKGROUND/AIM
Surgical repair techniques and management of patients with atrioventricular septal defect (AVSD) have progressed over the last few decades. Early and definitive interventions have become the choice of treatment for these patients. Based on this background, we aimed to review the early and mid-term outcomes of primary AVSD repair.
METHODS
A total of 53 patients with a mean age of 3.45 ± 5.67 years underwent definitive repair for AVSD between January 2014 and June 2021. The clinical data including age, type of defect, associated co-anomalies, symptoms, pulmonary hypertension, etc. were collected and assessed retrospectively. Mitral regurgitation (MR) as a clinical outcome was assessed at 0, 1, 2, and 5 years.
RESULTS
Among the recruited patients, 35 (66.1%) were male and 18 (33.9%) were female. Of 53 patients, repair for the complete defect was done in 38 (71.69%) patients, repair for intermediate/partial defect was done in 15 (23.1%) patients, and one patient underwent repair for incomplete type. Other associated co-anomalies were anterior mitral leaflet (12 (22.6%)), atrial and ventricular septal defect (VSD) (30 (56.6%)), and patent ductus arteriosus (PDA) (11 (20.8%)). Different procedures for surgical repair included patch closure, cleft repair, and polytetrafluoroethylene (PTFE) VSD closure. After repair, the mean follow-up period was 46.73 ± 27.37 months. Overall mortality was 3.78% (2/53), and two patients underwent reintervention due to symptomatic severe MR.
CONCLUSIONS
A definitive and timely correction of AVSD shows satisfactory early and mid-term results.
PubMed: 37846269
DOI: 10.7759/cureus.45304 -
Frontiers in Pediatrics 2023Acute intestinal diseases (AID), including necrotizing enterocolitis and spontaneous intestinal perforation, are a group of conditions that typically present in preterm...
INTRODUCTION
Acute intestinal diseases (AID), including necrotizing enterocolitis and spontaneous intestinal perforation, are a group of conditions that typically present in preterm infants, and are associated with an elevated mortality and morbidity rate. The risk factors for these diseases remain largely unknown. The aim of the study is to identify the correlation between twinning and the development of AID.
METHODS
A single-center retrospective case-control study was conducted. We recruited all infants with a diagnosis of AID, confirmed by anatomopathology, recovered in NICU between 2010 and 2020. Considering the rarity of the outcome, 4 matched controls for each subject were randomly chosen from the overall population of newborns. Odds Ratio (OR) and 95% Confidence Interval (CI) were calculated using a conditional logistic regression model and a multivariate model by the creation of a Directed Acyclic Graph (www.dagitty.net).
RESULTS
The study population resulted in 65 cases and 260 controls. The two groups present similar median gestational age and mean birthweight in grams. The cases have a higher frequency of neonatal pathology (defined as at least one of patent ductus arteriosus, early or late sepsis, severe respiratory distress) (84.6% vs. 51.9%), medically assisted procreation (33.8% vs. 18.8%) and periventricular leukomalacia (10.8% vs. 2.7%), and a lower frequency of steroids prophylaxis (67.7% vs. 86.9%). About 50% of cases needed surgery. The OR for the direct effect were difference from one using logistic regression booth without and with repeated measures statements: from 1.14 to 4.21 ( = .019) and from 1.16 to 4.29 ( = .016), respectively.
CONCLUSIONS
Our study suggests that twinning may be a risk factor for the development of AID. Due to the small number of cases observed, further studies on larger populations are needed.
PubMed: 38161432
DOI: 10.3389/fped.2023.1308538