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Diagnostics (Basel, Switzerland) Apr 2024Congenital heart defects (CHDs) affect a substantial proportion of patients with Kabuki syndrome. However, the prevalence and type of CHD and the genotype-phenotype...
Congenital heart defects (CHDs) affect a substantial proportion of patients with Kabuki syndrome. However, the prevalence and type of CHD and the genotype-phenotype correlations in Asian populations are not fully elucidated. This study performed a retrospective analysis of 23 Taiwanese patients with molecularly confirmed Kabuki syndrome. Twenty-two patients presented with pathogenic variants in the gene. Comprehensive clinical assessments were performed. A literature review was conducted to summarize the spectrum of CHDs in patients with Kabuki syndrome. In total, 16 (73.9%) of 22 patients with pathogenic variants had CHDs. The most common types of CHD were atrial septal defects (37.5%), ventricular septal defects (18.8%), coarctation of the aorta (18.8%), bicuspid aortic valve (12.5%), persistent left superior vena cava (12.5%), mitral valve prolapse (12.5%), mitral regurgitation (12.5%), and patent ductus arteriosus (12.5%). Other cardiac abnormalities were less common. Further, there were no clear genotype-phenotype correlations found. A literature review revealed similar patterns of CHDs, with a predominance of left-sided obstructive lesions and septal defects. In conclusion, the most common types of CHDs in Taiwanese patients with Kabuki syndrome who presented with mutations are left-sided obstructive lesions and septal defects.
PubMed: 38667491
DOI: 10.3390/diagnostics14080846 -
Zhongguo Dang Dai Er Ke Za Zhi =... Apr 2024To investigate the risk factors for the failure of ibuprofen treatment in preterm infants with hemodynamically significant patent ductus arteriosus (hsPDA).
OBJECTIVES
To investigate the risk factors for the failure of ibuprofen treatment in preterm infants with hemodynamically significant patent ductus arteriosus (hsPDA).
METHODS
A retrospective collection of clinical data was conducted on preterm infants with a gestational age of <34 weeks who were diagnosed with hsPDA and treated at the Department of Neonatology, Maternal and Child Health Hospital of Hubei Province, Tongji Medical College, Huazhong University of Science and Technology, from January 2018 to June 2023. The subjects were divided into two groups based on the treatment approach: the ibuprofen group (95 cases) and the ibuprofen plus surgery group (44 cases). The risk factors for the failure of ibuprofen treatment in preterm infants with hsPDA were identified by binary logistic regression analysis.
RESULTS
The binary logistic regression analysis revealed that an increased diameter of the ductus arteriosus, a resistance index (RI) value of the middle cerebral artery ≥0.80, and prolonged total invasive mechanical ventilation time were risk factors for the failure of ibuprofen treatment in preterm infants with hsPDA (<0.05). Receiver operating characteristic curve analysis showed that a ductus arteriosus diameter >2.85 mm, a middle cerebral artery RI value ≥0.80, and a total invasive mechanical ventilation time >16 days had significant predictive value for the failure of ibuprofen treatment in preterm infants with hsPDA (<0.05). The combined predictive value of these three factors was the highest, with an area under the curve of 0.843, a sensitivity of 86.5%, and a specificity of 75.0% (<0.05).
CONCLUSIONS
A ductus arteriosus diameter >2.85 mm, a middle cerebral artery RI value ≥0.80, and a total invasive mechanical ventilation time >16 days are risk factors for the failure of ibuprofen treatment in preterm infants with hsPDA, and they are of significant predictive value for the necessity of surgical treatment following the failure of ibuprofen treatment.
Topics: Humans; Ibuprofen; Ductus Arteriosus, Patent; Infant, Newborn; Infant, Premature; Female; Risk Factors; Male; Retrospective Studies; Treatment Failure; Hemodynamics; Logistic Models
PubMed: 38660897
DOI: 10.7499/j.issn.1008-8830.2310145 -
Saudi Medical Journal Apr 2024To examine the risk factors for severe bronchopulmonary dysplasia (BPD) in a cohort of very preterm infants (VPIs) in China, as BPD is common among VPIs and associated...
OBJECTIVES
To examine the risk factors for severe bronchopulmonary dysplasia (BPD) in a cohort of very preterm infants (VPIs) in China, as BPD is common among VPIs and associated with a high mortality rate.
METHODS
In this multicenter retrospective study, medical records from infants with BPD born at gestation age (GA) of <32 weeks with birth weight (BW) of <1,500 grams (g) in 7 regions of China were included. The cohort was stratified into different BPD severity groups based on their fraction of inspired oxygen requirement at a modified GA of 36 weeks or post discharge. Risk factors were identified using logistic regression analysis.
RESULTS
A significant inverse correlation was revealed between BPD severity and both GA and BW (<0.001). Independent risk factors for severe BPD (sBPD) were identified as invasive mechanical ventilation (≥7d), multiple blood transfusion (≥3), nosocomial infection (NI), hemodynamically significant patent ductus arteriosus (hsPDA), delayed initiation of enteral nutrition, and longer time to achieve total caloric intake of 110 kcal/kg. Conversely, administration of antenatal steroids was associated with reduced risk of sBPD.
CONCLUSION
Our study not only reaffirmed the established risk factors of low GA and BW for sBPD in VPIs, but also identified additional, potentially modifiable risk factors. Further research is warranted to explore whether intervention in these modifiable factors might reduce the risk of sBPD..
Topics: Humans; Bronchopulmonary Dysplasia; Risk Factors; Infant, Newborn; China; Male; Female; Retrospective Studies; Infant, Premature; Severity of Illness Index; Gestational Age; Infant, Extremely Premature; Cohort Studies; Respiration, Artificial; Ductus Arteriosus, Patent; Infant, Very Low Birth Weight; East Asian People
PubMed: 38657990
DOI: 10.15537/smj.2024.45.4.20230741 -
Pulmonary Circulation Apr 2024Heritable pulmonary arterial hypertension (HPAH) is a rare progressive condition that includes patients with an identified genetic cause of pulmonary arterial...
Early identification of SOX17 deficiency in infants to guide management of heritable pulmonary arterial hypertension using PDA stent to create reverse Potts shunt physiology.
Heritable pulmonary arterial hypertension (HPAH) is a rare progressive condition that includes patients with an identified genetic cause of pulmonary arterial hypertension (PAH). HPAH and idiopathic PAH (IPAH) have an estimated combined incidence of 0.5-0.9 cases per million children-years. Several pathogenic variants have been associated with HPAH in children and adults, including genes , , and , and more rarely with variants in genes such as . HPAH is often difficult to manage and has poor prognosis despite advances in medical therapy with many patients progressing to lung transplantation, right heart failure and death. Surgical and transcatheter Potts shunt creation can reduce systolic burden and has shown reduction in morbidity and mortality in children. Early genetic testing can provide both diagnostic and prognostic value in managing and counseling children with severe PAH and it can guide transcatheter or surgical management in refractory cases despite maximal medical therapies. We describe a patient with HPAH (SOX17 mutation) who underwent percutaneous patent ductus arteriosus stent for right ventricle decompression at 2 months of age with clinical management guidance by genetic testing results.
PubMed: 38655005
DOI: 10.1002/pul2.12366 -
Cureus Mar 2024Embryological misalignment between the aorta and pulmonary trunk gives rise to the congenital anomaly of the heart known as transposition of the great arteries (TGA)....
Embryological misalignment between the aorta and pulmonary trunk gives rise to the congenital anomaly of the heart known as transposition of the great arteries (TGA). TGA is a type of parallel circulation, where the heart pumps oxygenated blood from the left ventricle into the pulmonary trunk. The deoxygenated blood from the right ventricle is circulated into the body as it pumps blood into the aorta. This type of parallel circulation is not compatible with life unless there is communication between oxygenated and deoxygenated blood. The presence of a ventricular septal defect (VSD) or patent ductus arteriosus (PDA) in TGA patients serves as this communication. Cyanosis in the first month of life is the most common presenting feature. We had a five-and-a-half-year-old male child presenting with cyanosis and congestive cardiac failure (CCF), along with infective endocarditis with mitral valve regurgitation, which is an unusual complication of dextro-TGA (d-TGA) with pulmonary stenosis (PS) with VSD.
PubMed: 38654767
DOI: 10.7759/cureus.56832 -
Frontiers in Pediatrics 2024To evaluate serial tissue Doppler cardiac imaging (TDI) in the evolution of bronchopulmonary dysplasia-associated pulmonary hypertension (BPD-PH) among extremely preterm...
Serial tissue Doppler imaging in the evaluation of bronchopulmonary dysplasia-associated pulmonary hypertension among extremely preterm infants: a prospective observational study.
OBJECTIVES
To evaluate serial tissue Doppler cardiac imaging (TDI) in the evolution of bronchopulmonary dysplasia-associated pulmonary hypertension (BPD-PH) among extremely preterm infants.
DESIGN
Prospective observational study.
SETTING
Single-center, tertiary-level neonatal intensive care unit.
PATIENTS
Infant born <28 weeks gestation.
MAIN OUTCOME MEASURES
Utility of TDI in the early diagnosis and prediction of BPD-PH and optimal timing for screening of BPD-PH.
RESULTS
A total of 79 infants were included. Of them, 17 (23%) had BPD-PH. The mean gestational age was 25.9 ± 1.1 weeks, and mean birth weight was 830 ± 174 g. The BPD-PH group had a high incidence of hemodynamically significant patent ductus arteriosus (83% vs. 56%, < 0.018), longer oxygen days (96.16 ± 68.09 vs. 59.35 ± 52.1, < 0.008), and prolonged hospital stay (133.8 ± 45.9 vs. 106.5 ± 37.9 days, < 0.005). The left ventricular eccentricity index (0.99 ± 0.1 vs. 1.1 ± 0.7, < 0.01) and the ratio of acceleration time to right ventricular ejection time showed a statistically significant trend from 33 weeks (0.24 ± 0.05 vs. 0.28 ± 0.05, < 0.05). At 33 weeks, the BPD-PH group showed prolonged isovolumetric contraction time (27.84 ± 5.5 vs. 22.77 ± 4, < 0.001), prolonged isovolumetric relaxation time (40.3 ± 7.1 vs. 34.9 ± 5.3, < 0.003), and abnormal myocardial performance index (0.39 ± 0.05 vs. 0.32 ± 0.03, < 0.001). These differences persisted at 36 weeks after conceptional gestational age.
CONCLUSIONS
TDI parameters are sensitive in the early evolution of BPD-PH. Diagnostic accuracy can be increased by combining the TDI parameters with conventional echocardiographic parameters. BPD-PH can be recognizable as early as 33-34 weeks of gestation.
PubMed: 38646509
DOI: 10.3389/fped.2024.1349175 -
Cureus Mar 2024Birth-associated structural issues with the heart are known as congenital heart disorders or defects. They might alter the heart's regular blood flow. A 10-month-old...
Birth-associated structural issues with the heart are known as congenital heart disorders or defects. They might alter the heart's regular blood flow. A 10-month-old female child presented to a tertiary care hospital with symptoms of recurrent cyanotic spells with episodes of desaturation a few months after birth. ECG findings depicted a normal sinus rhythm with a right axis deviation along the right ventricular forces. Two-dimensional echocardiography showed a tetralogy of Fallot with pulmonary atresia with a patent ductus arteriosus from the undersurface of the arch with confluent small pulmonary arteries. A coronary wire was passed through the left subclavian artery, and a 4 × 16 mm stent was deployed successfully. After the procedure, the patient's saturation improved, and she was extubated on the table. The patient was on heparin for 24 hours and was started on oral aspirin thereafter. This case was discharged on the third postoperative day and was advised to follow up.
PubMed: 38623139
DOI: 10.7759/cureus.56135 -
European Heart Journal. Case Reports Apr 2024We report a case of isolated ductal origin of pulmonary artery (DOPA) diagnosed in an asymptomatic newborn. The primary aim of this case is to highlight the need to...
BACKGROUND
We report a case of isolated ductal origin of pulmonary artery (DOPA) diagnosed in an asymptomatic newborn. The primary aim of this case is to highlight the need to investigate for DOPA in patients diagnosed with an 'absent branch pulmonary artery'.
CASE SUMMARY
Our patient was an asymptomatic newborn infant, with normal intracardiac anatomy. He was initially diagnosed post-natally with 'absent left pulmonary artery' (LPA), though the LPA was seen in antenatal scans. He underwent angiography and was re-diagnosed with bilateral arterial ducts, with ductal origin of the LPA from the left arterial duct. The LPA was salvaged by first stenting the left arterial duct on Day 11 of life, with subsequent surgery to connect the LPA to the main pulmonary artery at 4.5 months old. The patient had an uneventful recovery after the surgery.
DISCUSSION
Ductal origin of pulmonary artery is a rare vascular anomaly characterized by continuity of the left or right pulmonary artery (PA) with the distal end of the arterial duct, and discontinuity with the main PA. It is commonly misdiagnosed as pulmonary artery agenesis when the patent arterial duct constricts, with cessation of blood flow into the affected pulmonary artery. A high index of suspicion is necessary for diagnosis of DOPA. Once diagnosed, this lesion is clearly amenable to intervention, with benefits from unifocalization, to prevent late onset pulmonary hypertension or cardiac failure.
PubMed: 38617590
DOI: 10.1093/ehjcr/ytae147 -
European Heart Journal. Case Reports Apr 2024
PubMed: 38617589
DOI: 10.1093/ehjcr/ytae162 -
Animals : An Open Access Journal From... Apr 2024Chymase in the renin-angiotensin system (RAS) actively contributes to cardiac disease progression. Chymase is activated to produce angiotensin II during tissue injury...
Chymase in the renin-angiotensin system (RAS) actively contributes to cardiac disease progression. Chymase is activated to produce angiotensin II during tissue injury and is involved in hemodynamics. A recent study demonstrated that plasma chymase activity reflects hemodynamic changes and aids in understanding patent ductus arteriosus (PDA) pathophysiology. The present study examined the relationship between plasma chymase activity and the administration of angiotensin-converting enzyme (ACE) inhibitor. Alacepril was administered to 13 puppies with PDA. Conventional echocardiographic parameters and non-invasive blood pressure were measured before and after medication. Plasma chymase activity was calculated using the colorimetric absorbance method. Plasma chymase activity significantly increased, but blood pressure significantly decreased. We detected an increase in plasma chymase activity due to ACE inhibition in PDA cases treated with alacepril. Plasma chymase activity was affected and altered by alacepril. In veterinary medicine, plasma chymase activity may be a novel method for assessing the pathology of and therapy for cardiac diseases.
PubMed: 38612317
DOI: 10.3390/ani14071078