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Frontiers in Pediatrics 2024Massive tricuspid regurgitation (TR) is the most common feature of pulmonary atresia with intact ventricular septum (PA/IVS), and mild or absent TR is observed in severe...
BACKGROUND
Massive tricuspid regurgitation (TR) is the most common feature of pulmonary atresia with intact ventricular septum (PA/IVS), and mild or absent TR is observed in severe right ventricular (RV) dysplasia or RV-to-coronary fistulous connections, resulting in non-biventricular (BV) outcomes postnatally.
CASE SUMMARY
We report a case of fetal severe pulmonary stenosis with IVS diagnosed at 26 weeks of gestation. The severity of RV hypoplasia did not worsen or reach indications for intrauterine intervention, while the jet velocity of TR decreased significantly during pregnancy. The fetus was definitely diagnosed with PA/IVS with mild RV dysplasia after birth. Unusually, the fetus did not experience severe TR and myocardial sinusoids, the TR jet velocity was maintained at 2.0 m/s, and the coronary artery was almost normal. The incapable RV cannot pump blood into pulmonary circulation after RV decompression from valvular perforation and balloon dilation. It may be an extraordinary finding of subsystemic RV.
CONCLUSION
PA/IVS is a heterogeneous disease with various degrees of RV dysplasia. Mild or no baseline TR is a reliable indicator with non-BV outcomes for fetal PA/IVS, even with acceptable dysplasia RV structures.
PubMed: 38751746
DOI: 10.3389/fped.2024.1251274 -
Cureus Mar 2024Encephaloceles and severe cardiac malformations are rare presentations in a newborn. The mechanism of these congenital abnormalities is relatively unknown, but it is...
Encephaloceles and severe cardiac malformations are rare presentations in a newborn. The mechanism of these congenital abnormalities is relatively unknown, but it is hypothesized to be related to genetic, environmental, and maternal risk factors. This case report describes a newborn with an occipital encephalocele associated with severe right ventricular hypoplasia secondary to tricuspid and pulmonary atresia. The patient's maternal risk factors included obesity, type 2 diabetes mellitus, and everyday tobacco use during pregnancy. Education on preconception planning, management, and counseling is essential as a preventative measure in fetal development and is further emphasized in this case.
PubMed: 38601418
DOI: 10.7759/cureus.55917 -
Ghana Medical Journal Jun 2023To determine the usefulness of cardiovascular physical examination (CPE) as a screening tool in a low-resource setting for detecting congenital heart disease (CHD) in...
OBJECTIVES
To determine the usefulness of cardiovascular physical examination (CPE) as a screening tool in a low-resource setting for detecting congenital heart disease (CHD) in newborns delivered at the Maternity Unit of Korle Bu Teaching Hospital (KBTH), Accra, Ghana.
DESIGN
A hospital-based cross-sectional study with a comparison group component.
SETTING
Maternity Unit of the KBTH, Accra, Ghana.
PARTICIPANTS
Over eight months, newborns aged 1-14 days delivered at ≥ 34 weeks' gestation at the Maternity Unit, KBTH, were recruited into the study.
INTERVENTION
Each newborn was examined using a set of CPE parameters for the presence of congenital heart disease. Those with suggestive features of CHD had a confirmatory echocardiogram test.
MAIN OUTCOME MEASURE
Abnormal CPE features and their corresponding echocardiogram findings.
RESULTS
A total of 1607 were screened, with 52 newborns showing signs of CHD on CPE, of which 20 newborns were proven on echocardiogram to have congenital heart disease. Abnormal CPE parameter that was associated with CHD was murmur (P=0.001), dysmorphism (p=0.01), newborns with chest recessions (p=0.01) and lethargy (p=0.02). CPE's sensitivity, specificity, and positive and negative predictive values were 95%, 60.7%, 36.5% and 98,1%, respectively. The most common acyanotic CHD found was isolated atrial septal defect (ASD), followed by patent ductus arteriosus (PDA). The only cyanotic CHD found was a case of tricuspid atresia.
CONCLUSION
Cardiovascular physical examination at birth is an effective and inexpensive screening tool for detecting CHD in newborns, which can easily be utilised in low-resource settings.
FUNDING
None declared.
Topics: Infant, Newborn; Humans; Female; Pregnancy; Ghana; Cross-Sectional Studies; Heart Defects, Congenital; Echocardiography; Hospitals, Teaching
PubMed: 38504760
DOI: 10.4314/gmj.v57i2.10 -
Cureus Feb 2024The unguarded tricuspid valve is a rare and severe condition. When found in the fetus, they mostly undergo abortion or intrauterine death. The details of the fetal...
Unguarded Tricuspid Valve and Pulmonary Atresia With Intact Ventricular Septum Complicated With Right Coronary Artery Fistula and Advanced Atrioventricular Block in a Fetus: A Case Report.
The unguarded tricuspid valve is a rare and severe condition. When found in the fetus, they mostly undergo abortion or intrauterine death. The details of the fetal course in such cases are poorly understood. Here, we report a case of an unguarded tricuspid valve detected at 20 weeks of gestation who developed a complete atrioventricular block and survived in utero. The fetus also had pulmonary atresia with intact ventricular septum, Uhl's disease, hypoplastic right ventricle, noncompacted left ventricle, valvular aortic stenosis, and right coronary artery fistula to the right ventricle. Despite this serious condition, the fetal hydrops did not develop. The baby was born at 33 weeks of gestation but died on day two. Our experience suggests that some babies may survive the fetal period even with the severe type of an unguarded tricuspid valve. Hence, efficient fetal and neonatal treatment strategies for fetal unguarded tricuspid valves are crucial.
PubMed: 38496137
DOI: 10.7759/cureus.54209 -
Frontiers in Pediatrics 2024[This corrects the article DOI: 10.3389/fped.2023.1159342.].
Corrigendum: Comparison of cardiac function between single left ventricle and tricuspid atresia: assessment using echocardiography combined with computational fluid dynamics.
[This corrects the article DOI: 10.3389/fped.2023.1159342.].
PubMed: 38357502
DOI: 10.3389/fped.2024.1368440 -
Journal of Equine Science Dec 2023The necropsy of a 2-day-old Noma horse that died of weakness showed an enlarged cardiac base and a narrow cardiac apex, suggesting cardiac malformation. The excised...
Postmortem magnetic resonance imaging findings of tricuspid atresia with ventricular and atrial septal defects and subvalvular pulmonic stenosis in a Japanese native Noma horse.
The necropsy of a 2-day-old Noma horse that died of weakness showed an enlarged cardiac base and a narrow cardiac apex, suggesting cardiac malformation. The excised heart underwent imaging to investigate its luminal structure. On three-dimensional magnetic resonance imaging, the right atrium and right ventricle were discontinuous. The right atrium communicated with the left atrium and the left ventricle communicated with the right ventricle. The lumen narrowed near the pulmonary artery valve. Since the same findings were observed on gross examination, the foal was diagnosed with tricuspid atresia with ventricular and atrial septal defects, along with subvalvular pulmonic stenosis.
PubMed: 38274557
DOI: 10.1294/jes.34.121 -
Annals of Medicine and Surgery (2012) Jan 2024Edward syndrome is a severe chromosomal defect that occurs as a result of non-disjunction through meiosis. It presents with cardiac septal defects, horseshoe kidneys,...
INTRODUCTION AND IMPORTANCE
Edward syndrome is a severe chromosomal defect that occurs as a result of non-disjunction through meiosis. It presents with cardiac septal defects, horseshoe kidneys, patent ductus arteriosus, central nervous system dysgenesis, distinctive craniofacial deformities, and overriding or overlapping fingers. Klinefelter syndrome (47, XXY) is found in 1 in 660 newborn males. It is considered to be one of the most common genetic causes of infertility. It manifests with small firm testes, androgen insufficiency, and azoospermia.
CASE PRESENTATION
A 2-month-old male infant with a history of weakness in feeding, frequent convulsions, and an increase in cyanosis two days ago. There were multiple skeletal deformities and a tendency to spasm in the extremities, left ventricular atrophy, mitral atresia, atrial septal defect, ventricular septal defect with dilated right cavities, tricuspid valve regurgitation, pulmonary valve stenosis; and the aorta exits in the right ventricle. There is a widening of the subdural space, which was observed in the left frontal-parietal side with cortical atrophy in that area and a widening of the Sylvian fissure. A karyotype test confirmed the presence of Edward and Klinefelter syndromes.
CLINICAL DISCUSSION
Aneuploidy is a chromosomal issue characterized by an abnormal number of a chromosome copies. The coexistence of two aneuploidies is called "double aneuploidy" which is a rare occurrence. Herein, we report a case of a 2-month-old male with Edward syndrome and Klinefelter syndrome.
CONCLUSION
This publication aims to highlight the challenges in diagnosing and treating a complicated genetic disease.
PubMed: 38222680
DOI: 10.1097/MS9.0000000000001468 -
JTCVS Open Dec 2023To evaluate the exercise capacity in patients following Fontan-Kreutzer, Fontan-Björk, and total cavopulmonary connection (TCPC).
OBJECTIVE
To evaluate the exercise capacity in patients following Fontan-Kreutzer, Fontan-Björk, and total cavopulmonary connection (TCPC).
METHODS
Patients who performed exercise capacity tests at least once after the Fontan procedure between 1979 and 2007 were included. Patients after Fontan-Björk procedure were divided into 2 groups according to the pulmonary blood flow (PBF) pattern: patients with pulsatile PBF and those without. Peak oxygen uptake (VO) was measured and percent-predicted VO was calculated.
RESULTS
A total of 227 patients were nominated. The types of Fontan procedure included Fontan-Kreutzer in 48 (21.1%) patients, Fontan-Björk in 38 (16.7%); 11 (4.8%) with pulsatile PBF and 27 (11.9%) without pulsatile PBF; and TCPC in 141 (62.1%). Median age at the Fontan procedure was 4.5 years (interquartile range, 2.1-8.2 years). A total of 978 cardiopulmonary exercise tests were performed at median follow-up of 17.7 years (interquartile range, 11.3-23.4 years) postoperatively. Analysis using linear mixed-effects models demonstrated that percent-predicted VO was greater in patients with pulsatile PBF after Fontan-Björk compared with patients after other types of Fontan procedure ( < .001). The same results were obtained when the longitudinal percent predicted VO was performed using only patients with tricuspid atresia and double inlet left ventricle ( < .001).
CONCLUSIONS
Among long-term survivors after various types of Fontan procedures, patients with pulsatile PBF after the Fontan-Björk procedure demonstrated better exercise performance compared to those after TCPC, those after the Fontan-Kreutzer procedure, and those after the Fontan-Björk procedure with non-pulsatile PBF. The results implicate the importance of pulsatile PBF to maintain the Fontan circulation.
PubMed: 38204613
DOI: 10.1016/j.xjon.2023.08.012