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JACC. Case Reports Jul 2024A patient presented with severe right heart failure due to a large LV-to-RA shunt with left-to-right shunting and torrential tricuspid regurgitation 6-weeks following...
A patient presented with severe right heart failure due to a large LV-to-RA shunt with left-to-right shunting and torrential tricuspid regurgitation 6-weeks following surgical sub-aortic stenosis resection. Retrograde delivery of an Occlutech ventricular septal defect device produced instantaneous resolution of shunt, reduction in tricuspid regurgitation, and impressive diuresis of 28 kg.
PubMed: 38912319
DOI: 10.1016/j.jaccas.2024.102389 -
Pediatric Investigation Jun 2024In patients with transposition of the great arteries, the continuation of prostaglandin E1 is more frequent in patients with intact ventricular septum in comparison to...
In patients with transposition of the great arteries, the continuation of prostaglandin E1 is more frequent in patients with intact ventricular septum in comparison to patients with ventricular septal defect. Ballon atrial septostomy did not eliminate the need for prostaglandin E1 infusion until the time of surgery in both subgroups of patients.
PubMed: 38910849
DOI: 10.1002/ped4.12425 -
Cureus May 2024Cyclin-dependent kinase 13 (CDK13)-related disorder is a rare autosomal dominant disease caused by pathogenic variants in the gene. This disorder was found to be...
Cyclin-dependent kinase 13 (CDK13)-related disorder is a rare autosomal dominant disease caused by pathogenic variants in the gene. This disorder was found to be related to several clinical features, including structural cardiac anomalies, developmental delay, anomalies of the corpus callosum, and a variety of facial dysmorphisms. In addition, feeding difficulties and neonatal hypotonia might also present. The diagnosis of this disorder is based on molecular genetic testing to detect the causative pathogenic variants. Here, we report a case of a one-year-old girl from Yemen, residing in Bahrain, with a CDK13-related disorder who was found to have an unusual association of abdominal situs inversus along with multiple structural cardiac anomalies, including atrial septal defect, ventricular septal defect, patent ductus arteriosus, interrupted inferior vena cava, bilateral superior vena cava, mild coarctation of the aorta, dilated coronary sinuses, and mild regurgitation in the tricuspid valve. Moreover, facial dysmorphism including medial epicanthal folds, posteriorly rotated ears, and a depressed nasal bridge was also noted. Further assessment showed a delay in reaching developmental milestones, including speech and motor delay. The patient also presented with recurrent episodes of upper respiratory tract infections, acute bronchiolitis, and lobar pneumonia which required admission to the intensive care unit and ventilation. The last infection episode was at the age of one year. Thereafter, the patient underwent cardiac repair of the ventricular septal defect followed by no more infection episodes until the age of one year and two months. The diagnosis of CDK13 was confirmed by a whole exome sequencing test which demonstrated a novel missense variant in exon 14 of the gene as a variant of uncertain significance in a heterozygous state.
PubMed: 38910624
DOI: 10.7759/cureus.60970 -
Cureus May 2024This case report presents a rare incidence of a persistent Eustachian valve (EV) causing notable venous dilation in the abdominal and pelvic regions of a 44-year-old...
This case report presents a rare incidence of a persistent Eustachian valve (EV) causing notable venous dilation in the abdominal and pelvic regions of a 44-year-old healthy male. Initially presenting with left flank pain, diagnostic evaluations identified a 4.8-mm calculus in the distal left ureterovesical junction. Incidentally, imaging also revealed unexplained venous distensions, subsequently attributed to a prominent EV obstructing the inferior vena cava (IVC). The EV, an embryological structure in fetal circulation that helps divert blood from the IVC to the left atrium via the foramen ovale, typically regresses postnatally. Its persistence into adulthood is uncommon and often does not necessitate intervention. However, a persistent EV is often associated with other cardiac findings, especially a patent foramen ovale (PFO) of an atrial septal defect (ASD). There were some reports demonstrating that persistent EV may play a role in an increased risk of paradoxical cerebral embolism in such cases. Therefore, the case underscores the importance of considering such embryological remnants in the differential diagnoses of unexplained venous distension and cryptogenic stroke. It also highlighted the need for a personalized approach to management, especially during the preparation phase before interventional procedures, such as an ASD closure, to minimize the risks during the operation. Furthermore, it also contributed to a broader understanding of the clinical implications of persistent embryological structures and emphasized the value of meticulous diagnostic processes in identifying the underlying causes of observed anomalies.
PubMed: 38910619
DOI: 10.7759/cureus.60994 -
Journal of Cardiothoracic Surgery Jun 2024The incidence of minimally invasive heart surgery via mini-thoracotomy (MT; right anterior thoracotomy) is on the rise, accompanied by an increase in post-MT intercostal...
BACKGROUND
The incidence of minimally invasive heart surgery via mini-thoracotomy (MT; right anterior thoracotomy) is on the rise, accompanied by an increase in post-MT intercostal nerve neuralgia and the risk of lung herniation through the incision site. While various methods have been proposed to address these issues, none have been commonly effective. In this case report, we attempted to simultaneously address these problems by performing intercostal cryoablation (IC) and mesh repair.
CASE PRESENTATION
A 43-year-old male was referred to our hospital for chronic post-thoracotomy neuralgia following heart surgery via MT, involving patch closure of an atrial septal defect and tricuspid annuloplasty. He presented with intercostal nerve neuralgia and lung herniation accompanied by severe pain. Despite medication and lidocaine injections, there was no relief. Consequently, he underwent surgical treatment with IC for chronic MT wound pain and simultaneously underwent mesh repair for a lung hernia. He was discharged from hospital free of complications. Subsequently, he no longer required further pain medication and experienced a favorable recovery.
CONCLUSION
Our findings suggest that concurrent IC and mesh repair can effectively relieve chronic post-MT intercostal nerve neuralgia and severe lung herniation pain in patients who underwent MT surgery, leading to a decrease in opioid medication usage.
Topics: Humans; Male; Adult; Cryosurgery; Thoracotomy; Surgical Mesh; Herniorrhaphy; Intercostal Nerves; Pain, Postoperative; Lung Diseases; Neuralgia; Hernia; Chronic Pain
PubMed: 38907312
DOI: 10.1186/s13019-024-02864-y -
European Heart Journal. Case Reports Jun 2024Atrial septal defect (ASD) is characterized by a diverse clinical presentation influenced by the type, size, and haemodynamics. Endurance athletes with ASD may exhibit...
BACKGROUND
Atrial septal defect (ASD) is characterized by a diverse clinical presentation influenced by the type, size, and haemodynamics. Endurance athletes with ASD may exhibit higher than normal performance levels, however they face an elevated risk of exercise-induced cardiac volume and pressure strain, potentially expediting a maladaptation of the right heart.
CASE SUMMARY
An asymptomatic 28-year-old female elite triathlete sought a pre-participation sports medical examination. Her past medical history revealed right heart enlargement. Transthoracic echocardiography and magnetic resonance imaging did not ascertain a definitive diagnosis such as shunting. The examination revealed a remarkably high maximum oxygen uptake during cardio-pulmonary exercise testing (CPET), yet an abnormal oxygen uptake/workload slope and a low, plateauing oxygen pulse. The athlete agreed to transoesophageal echocardiography that demonstrated a superior sinus venosus-type ASD. Surgical intervention, conducted with minimally invasive endoscopic robotic technology and a pericardial patch, was performed at a tertiary centre under full cardio-pulmonary bypass. At seven-month follow-up, the patient reported engaging in swim sessions without limitations and participating in high intensity cycling sessions with performances similar to pre-surgery. Cardio-pulmonary exercise testing revealed increased maximum oxygen consumption and normalization of oxygen uptake/workload slope and maximum oxygen pulse.
DISCUSSION
Endurance athletes with ASD may have abnormal haemodynamic response during CPET despite an exceptional high maximum oxygen uptake. This underscores the value of CPET in the diagnostic work-up of right heart enlargement.
PubMed: 38895170
DOI: 10.1093/ehjcr/ytae278 -
Journal of Clinical Medicine Jun 2024At present, the patent foramen ovale (PFO) does not receive the deserved medical attention. The PFO poses a serious threat to health and even the life of mankind. The... (Review)
Review
At present, the patent foramen ovale (PFO) does not receive the deserved medical attention. The PFO poses a serious threat to health and even the life of mankind. The first respective case report in the medical literature dates back to the 19th century. It led to death. The fact that a PFO is present in roughly 25% of people underscores its overall potential to cause harm. Yet at the same time, the sheer number discourages the medical community from screening for it and from treating it. About 5% of the population have particularly dangerous forms of PFOs. Such PFOs portray a high enough risk for clinical events, the likes of death, stroke, myocardial infarction, or ocular, visceral, and peripheral embolism, to justify screening for them. Highly significant health incidents being at stake, it appears obvious that PFO closure should be used for primary prevention. This is supported by the fact that closing a PFO is the simplest intervention in cardiology, with presumably the highest clinical yield. Being mainly a preventive measure, PFO closure represents a mechanical vaccination. When closing PFOs for one of the rarer therapeutic indications (migraine, platypnea orthodeoxia, etc.), patients automatically profit from the collateral benefit of getting, at the same time, mechanically vaccinated for life against paradoxical embolism. Vice versa, closing a PFO for the prevention of paradoxical embolism betters or cures migraine or exercise dyspnea not infrequently, thereby improving quality of life as a collateral benefit.
PubMed: 38893065
DOI: 10.3390/jcm13113355 -
Frontiers in Pediatrics 2024Atrial septal defect (ASD) is a congenital heart disease that often presents without symptoms or murmurs. If left untreated, children with ASD can develop comorbidities...
BACKGROUND
Atrial septal defect (ASD) is a congenital heart disease that often presents without symptoms or murmurs. If left untreated, children with ASD can develop comorbidities in adulthood. In Japan, school electrocardiography (ECG) screening has been implemented for all 1st, 7th, and 10th graders. However, the impact of this program in detecting children with ASD is unknown.
METHODS
This is a retrospective study that analyzed consecutive patients with ASD who underwent catheterization for surgical or catheter closure at ≤18 years of age during 2009-2019 at a tertiary referral center in Japan.
RESULTS
Of the overall 116 patients with ASD (median age: 3.0 years of age at diagnosis and 8.9 years at catheterization), 43 (37%) were prompted by the ECG screening (Screening group), while the remaining 73 (63%) were by other findings (Non-screening group). Of the 49 patients diagnosed at ≥6 years of age, 43 (88%) were prompted by the ECG screening, with the 3 corresponding peaks of the number of patients at diagnosis. Compared with the non-screening group, the screening group exhibited similar levels of hemodynamic parameters but had a lower proportion of audible heart murmur, which were mainly prompted by the health care and health checkups in infancy or preschool period. Patients positive for a composite parameter (rsR' type of iRBBB, inverted T in V4, or ST depression in the aVF lead) accounted for 79% of the screening group at catheterization, each of which was correlated with hemodynamic parameters in the overall patients.
CONCLUSIONS
The present study shows that school ECG screening detects otherwise unrecognized ASD, which prompted the diagnosis of the majority of patients at school age and >one-third of overall patients in Japan. These findings suggest that ECG screening program could be an effective strategy for detecting hemodynamically significant ASD in students, who are asymptomatic and murmurless.
PubMed: 38887565
DOI: 10.3389/fped.2024.1396853 -
Journal of Thoracic Disease May 2024Left atrioventricular valvular regurgitation (LAVVR) recurrence after partial and transitional atrioventricular septal defect (AVSD) repair is the main risk factor...
BACKGROUND
Left atrioventricular valvular regurgitation (LAVVR) recurrence after partial and transitional atrioventricular septal defect (AVSD) repair is the main risk factor associated with reoperation or mortality. The purpose of this study was to identify risk factors associated with the recurrence of LAVVR after surgical repair of transitional and partial AVSD at a single institution.
METHODS
A hundred and fifty-seven patients who underwent anatomical repair for partial and transitional AVSD from January 2013 to December 2021 were included in our institutional database. Demographic characteristics, operative information, comorbidities, complications, and outcomes were retrieved from electronic medical records. Echocardiographic evaluations included cardiac dimensions, the degree of LAVVR, and the anatomy of the atrioventricular valve.
RESULTS
After a median follow-up period of 5.8 years, 40 patients had recurrent moderate or even more severe LAVVR. Compared with patients without recurrent LAVVR, those experiencing LAVVR recurrence were more likely to have larger preoperative left atrial (LA) size and larger left ventricular (LV) size after standardization, larger left atrioventricular valve (LAVV) cleft width, higher proportions of preoperative moderate or even more severe LAVVR, and immediately postoperative mild to moderate or even more severe LAVVR. Univariate Cox regression analysis showed that age at first repair, height, LA size after standardization, LV size after standardization, the severity of preoperative LAVVR, immediately postoperative LAVVR, and the LAVV cleft width more than 1cm were risk factors for recurrent LAVVR (P<0.05 for all). Multivariable Cox regression analysis showed that mild to moderate or even more severe LAVVR postoperatively [hazard ratio (HR) 9.53, 95% confidence interval (CI): 3.78-24.01; P<0.001], the width of LAVV cleft more than 1 cm (HR: 3.90, 95% CI: 1.80-8.48; P<0.001) and age at first repair (HR: 0.45, 95% CI: 0.31-0.66; P<0.001) were independently associated with the recurrence of LAVVR.
CONCLUSIONS
The width of LAVV cleft, mild to moderate or even more severe LAVVR immediately after surgery, and age at initial surgery are risk factors for recurrent LAVVR. The presence of recurrent LAVVR necessitates proactive surveillance to facilitate timely reintervention.
PubMed: 38883679
DOI: 10.21037/jtd-23-1694 -
International Journal of Cardiology Jun 2024The purpose of this study was to analyse the association between stannum exposure during pregnancy and congenital heart diseases in offspring.
BACKGROUND
The purpose of this study was to analyse the association between stannum exposure during pregnancy and congenital heart diseases in offspring.
METHODS
Based on a prospective birth cohort study conducted in Gansu Maternal and Child Health Hospital from 2010 to 2012, 14,359 pregnant women were followed up using a nested case-control study method. 97 pregnant women whose offspring were diagnosed with CHDs were used as the case group, and 194 pregnant women whose offspring did not suffer from congenital heart diseases were used as the control group in a ratio of 1:2 according to their age and place of birth. Inductively coupled plasma mass spectrometry was used to determine elemental stannum in blood samples from pregnant women hospitalized for delivery and in fetal cord blood samples. Multifactorial logistic regression analysis was used to assess the association between stannum and offspring CHDs.
RESULTS
There was a moderate positive correlation between the concentration of stannum in pregnant women's blood and that in umbilical cord blood. A higher concentrations of maternal blood stannum level was associated with a greater risk of CHDs (aOR 3.409, 95%CI 1.785-6.826), isolated CHDs (aOR 4.044, 95%CI 1.803-9.070), multiple CHDs (aOR 2.625, 95%CI 1.137-6.061), patent ductus arteriosus (aOR 2.882, 95%CI 1.443-5.756), atrial septal defects (aOR 3.067, 95%CI 1.406-6.690), ventricular septal defects (aOR 7.414, 95%CI 1.414-38.874). There was a correlation between the maternal and cord blood sample suggesting stannum crosses the placenta.
PubMed: 38880423
DOI: 10.1016/j.ijcard.2024.132270