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Europace : European Pacing,... Dec 2023Kleefstra syndrome (KS), often diagnosed in early childhood, is a rare genetic disorder due to haploinsufficiency of EHMT1 and is characterized by neuromuscular and...
AIMS
Kleefstra syndrome (KS), often diagnosed in early childhood, is a rare genetic disorder due to haploinsufficiency of EHMT1 and is characterized by neuromuscular and intellectual developmental abnormalities. Although congenital heart disease (CHD) is common, the prevalence of arrhythmias and CHD subtypes in KS is unknown.
METHODS AND RESULTS
Inspired by a novel case series of KS patients with atrial tachyarrhythmias in the USA, we evaluate the two largest known KS registries for arrhythmias and CHD: Radboudumc (50 patients) based on health record review at Radboud University Medical Center in the Netherlands and GenIDA (163 patients) based on worldwide surveys of patient families. Three KS patients (aged 17-25 years) presented with atrial tachyarrhythmias without manifest CHD. In the international KS registries, the median [interquartile range (IQR)] age was considerably younger: GenIDA/Radboudumc at 10/13.5 (12/13) years, respectively. Both registries had a 40% prevalence of cardiovascular abnormalities, the majority being CHD, including septal defects, vascular malformations, and valvular disease. Interestingly, 4 (8%) patients in the Radboudumc registry reported arrhythmias without CHD, including one atrial fibrillation (AF), two with supraventricular tachycardias, and one with non-sustained ventricular tachycardia. The GenIDA registry reported one patient with AF and another with chronic ectopic atrial tachycardia (AT). In total, atrial tachyarrhythmias were noted in six young KS patients (6/213 or 3%) with at least four (three AF and one AT) without structural heart disease.
CONCLUSION
In addition to a high prevalence of CHD, evolving data reveal early-onset atrial tachyarrhythmias in young KS patients, including AF, even in the absence of structural heart disease.
Topics: Humans; Child, Preschool; Atrial Fibrillation; Heart Defects, Congenital; Tachycardia; Epigenesis, Genetic; Chromosome Deletion; Chromosomes, Human, Pair 9; Intellectual Disability; Craniofacial Abnormalities
PubMed: 38195854
DOI: 10.1093/europace/euae003 -
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 -
Frontiers in Physiology 2023Adult patients with atrial septal defects (ASD), the most common form of adult congenital heart disease, often die of arrhythmias, and the immaturity of cardiomyocytes...
Volume overload impedes the maturation of sarcomeres and T-tubules in the right atria: a potential cause of atrial arrhythmia following delayed atrial septal defect closure.
Adult patients with atrial septal defects (ASD), the most common form of adult congenital heart disease, often die of arrhythmias, and the immaturity of cardiomyocytes contributes significantly to arrhythmias. ASD typically induces a left-to-right shunt, which then leads to the right atrium (RA) volume overload (VO). Whether or not VO contributes to RA cardiomyocyte immaturity and thereby causes arrhythmias in adult patients with ASD remains unclear. Here, we developed the first neonatal RA VO mouse model by creating a fistula between the inferior vena cava and abdominal aorta on postnatal day 7. RA VO was confirmed by increases in the mean flow velocity, mean pressure gradient, and velocity time integral across the tricuspid valve, and an increase in the RA diameter and RA area middle section. We found that VO decreased the regularity and length of sarcomeres, and decreased the T-element density, regularity, and index of integrity of T-tubules in RA cardiomyocytes, suggesting that the two most important maturation hallmarks (sarcomere and T-tubules) of RA cardiomyocytes were impaired by VO. Accordingly, the calcium handling capacity of cardiomyocytes from postnatal day 21 (P21) RA was decreased by VO. VO caused a significant elongation of the PR interval. The expression of connexin 43 (Cx43) was decreased in RA VO. Moreover, gene ontology (GO) analysis of the downregulated genes in RA demonstrated that there was an abundance of enriched terms associated with sarcomeres and T-tubules exposed to VO. The results were further verified by qRT-PCR. In conclusion, the first neonatal RA VO mouse model was developed; furthermore, using this neonatal RA VO mouse model, we revealed that VO impeded RA sarcomere and T-tubule maturation, which may be the underlying causes of atrial arrhythmias in adult patients with ASD.
PubMed: 37908335
DOI: 10.3389/fphys.2023.1237187 -
Cureus May 2024Platypnea-orthodeoxia syndrome (POS) is a rare condition characterized by dyspnea and oxygen desaturation that worsens in the upright position and improves when lying...
Platypnea-orthodeoxia syndrome (POS) is a rare condition characterized by dyspnea and oxygen desaturation that worsens in the upright position and improves when lying down. We report the case of a 67-year-old male who presented with a 14-month history of dyspnea in the sitting/standing position. Despite treatment for suspected asthma, his symptoms persisted, and he was referred to our hospital for further evaluation. Physical examination and arterial blood gas analysis confirmed the presence of POS, with a significant decrease in PaO and SpO when moving from a supine to an upright position. Contrast-enhanced CT showed no obvious embolism nor arteriovenous fistula, and ventilation-perfusion scintigraphy demonstrated ventilation-perfusion mismatch with a right-to-left shunt fraction of 9.4%, without any focal defect. Transthoracic echocardiography with a microbubble test demonstrated a right-to-left shunt that increased in the upright position. Transesophageal echocardiography revealed an atrial septal defect (ASD) with an atrial septal aneurysm and the presence of an inferior vena cava valve, causing a bidirectional shunt. The patient was diagnosed with POS secondary to ASD and was referred for percutaneous closure of the defect. Following the procedure, the shunt resolved, and the patient's orthostatic oxygen desaturation improved. This case highlights the importance of considering POS in patients with positional dyspnea and the value of performing diagnostic tests, such as echocardiography, in different positions to identify the underlying cause. Early recognition and appropriate management of POS can significantly improve patients' quality of life and prevent complications associated with chronic hypoxemia.
PubMed: 38947622
DOI: 10.7759/cureus.61260 -
European Heart Journal. Case Reports Oct 2023Scimitar syndrome is a very rare congenital cardio-pulmonary disease with anomalous right pulmonary vein draining either partially or completely into the inferior vena...
BACKGROUND
Scimitar syndrome is a very rare congenital cardio-pulmonary disease with anomalous right pulmonary vein draining either partially or completely into the inferior vena cava. It is called Scimitar syndrome due to the classical appearance in the chest X-ray, which resembles the curved blade of Turkish sword 'Scimitar'. It commonly associates with atrial septal defect (ASD), hypoplasia of the right lung, dextroposition of the heart, and pulmonary hypertension (PHT).
CASE SUMMARY
A 67-year-old lady, diagnosed with atrial fibrillation and moderate PHT 3 years ago, presented with worsening bilateral ankle oedema and New York Heart Association class III shortness of breath. Chest X-ray showed the Scimitar appearance. The trans-thoracic and trans-oesophageal echocardiograms revealed a 46 mm ASD and a partial anomalous pulmonary venous drainage (PAPVD) of the right upper pulmonary vein (RUPV) into the right atrium at the junction of the atria. Three-dimensional reconstruction of the computed tomographic pulmonary angiogram confirmed Scimitar syndrome of the right lower pulmonary vein (RLPV). We managed her conservatively on her wish. After 13 months, she succumbed due to a massive stroke.
DISCUSSION
We describe a very rare case of an elderly lady who has Scimitar syndrome with an ASD and evidence of PAPVD of the RUPV; thus, we intend to provide an antecedent for further cases, for prompt and accurate diagnosis and timely interventions in order to prevent life-threatening complications.
PubMed: 37811155
DOI: 10.1093/ehjcr/ytad453 -
The Journal of Invasive Cardiology Nov 2023The data on the use of Gore Cardioform Septal Occluder (GCA; W. L. Gore and Associates, Inc.) for atrial septal defect (ASD) with deficient rims is limited.
BACKGROUND
The data on the use of Gore Cardioform Septal Occluder (GCA; W. L. Gore and Associates, Inc.) for atrial septal defect (ASD) with deficient rims is limited.
METHODS
All patients evaluated by transesophageal echocardiogram (TEE) for ASD occlusion were included. TEE planes at 35°, 0°, and 90° were assessed for anterior-superior (AS) and posterior (P), anterior-inferior (AI) and posterior-superior (PS), as well as superior (S) and inferior (I) rims. ASD size >20 mm, and rims less than 5 mm were defined as large and deficient, respectively. We included patients who had a procedural failure along with the patients in whom the procedure was not attempted after echocardiogram in the unsuccessful group.
RESULTS
In 148 patients, the median weight, age, and ASD size were 36 kg (range, 8-60 kg), 11.8 years (range, 1-60 years), and 14.2 ± 8.28 mm, respectively. One or more deficient rims were noted in 112 of 148 (75.7%): 99 (67%) AS, 36 (24%) P, 17 (11%) AI, 30 (20%) PS, 26 (18%) S, and 33 (22%) I. ASD closure was performed in 115 (78%) patients. The procedure was successful in 111 (96.5%) patients with procedural failure in 4 (3.4%) patients. Multiple deficient rims were associated with reduced procedural success (OR 0.36, 95% CI, 0.25-0.56). On multivariate analysis deficient P, PS, and I rims were associated with an unsuccessful group (P = .001, .046, and .005, respectively). Complications included 1 device embolization, 1 vascular injury, and 5 arrhythmias.
CONCLUSIONS
Transcatheter closure of ASDs with deficient rims is feasible using GCA. Large ASDs with deficient P, PS, and I rims were associated with unsuccessful closure. Risk stratification and comprehensive evaluation of ASD rims is vital for the use of GCA.
Topics: Humans; Cardiac Catheterization; Heart Septal Defects, Atrial; Echocardiography, Transesophageal; Echocardiography; Arrhythmias, Cardiac; Septal Occluder Device; Treatment Outcome
PubMed: 37992333
DOI: 10.25270/jic/23.00119 -
PloS One 2023Chronic stress among young patients (≤ 45 years old) could result in autonomic dysfunction. Autonomic dysfunction could be exhibited via sympathetic hyperactivity,...
Chronic stress among young patients (≤ 45 years old) could result in autonomic dysfunction. Autonomic dysfunction could be exhibited via sympathetic hyperactivity, sympathetic nerve sprouting, and diffuse adrenergic stimulation in the atria. Adrenergic spatial densities could alter atrial electrophysiology and increase arrhythmic susceptibility. Therefore, we examined the role of adrenergic spatial densities in creating arrhythmogenic substrates in silico. We simulated three 25 cm2 atrial sheets with varying adrenergic spatial densities (ASD), activation rates, and external transmembrane currents. We measured their effects on spatial and temporal heterogeneity of action potential durations (APD) at 50% and 20%. Increasing ASD shortens overall APD, and maximum spatial heterogeneity (31%) is achieved at 15% ASD. The addition of a few (5% to 10%) adrenergic elements decreases the excitation threshold, below 18 μA/cm2, while ASDs greater than 10% increase their excitation threshold up to 22 μA/cm2. Increase in ASD during rapid activation increases APD50 and APD20 by 21% and 41%, respectively. Activation times of captured beats during rapid activation could change by as much as 120 ms from the baseline cycle length. Rapidly activated atrial sheets with high ASDs significantly increase temporal heterogeneity of APD50 and APD20. Rapidly activated atrial sheets with 10% ASD have a high likelihood (0.7 ± 0.06) of fragmenting otherwise uniform wavefronts due to the transient inexcitability of adrenergically stimulated elements, producing an effective functional block. The likelihood of wave fragmentation due to ASD highly correlates with the spatial variations of APD20 (ρ = 0.90, p = 0.04). Our simulations provide a novel insight into the contributions of ASD to spatial and temporal heterogeneities of APDs, changes in excitation thresholds, and a potential explanation for wave fragmentation in the human atria due to sympathetic hyperactivity. Our work may aid in elucidating an electrophysiological link to arrhythmia initiation due to chronic stress among young patients.
Topics: Humans; Middle Aged; Adrenergic Agents; Atrial Fibrillation; Action Potentials; Autism Spectrum Disorder; Heart Septal Defects, Atrial; Primary Dysautonomias
PubMed: 37624832
DOI: 10.1371/journal.pone.0290676 -
Research Square Jan 2024The ideal follow-up of neonates who have a secundum atrial septal defect (ASD), muscular ventricular septal defect (VSD) or patent ductus arteriosus (PDA) remains...
BACKGROUND
The ideal follow-up of neonates who have a secundum atrial septal defect (ASD), muscular ventricular septal defect (VSD) or patent ductus arteriosus (PDA) remains uncertain.
METHODS
Newborns with findings limited to a secundum ASD, muscular VSD and/or PDA on their last birth hospital echocardiogram and at least one outpatient follow-up echocardiogram performed between 9-1-17 and 9-1-21 were evaluated and patient follow-up assessed through 9-1-23.
RESULTS
95 babies met inclusion criteria. 43 babies had a secundum ASD, 41 had a muscular VSD and 54 had a PDA at newborn hospital discharge. 39/95 had more than one intracardiac shunt. 56 were discharged from care, 26 were still in follow-up and 13 were lost to recommended follow-up.No patients required intervention during the follow-up period of 2 to 6 years. Of those 43 with a secundum ASD 16 (37.2%) had demonstrated closure of the ASD and 13 (30.2%) were discharged from care with and ASD < 3.5 mm in diameter. 3/43 infants with secundum ASD had a defect large enough to easily warrant further follow-up.
CONCLUSION
Even in this group who had early clinical follow-up recommended by a pediatric cardiologist, no baby discharged from their birth hospitalization with a secundum ASD, muscular VSD or PDA needed any intervention from 2 to 6 years of follow-up. Ongoing follow-up with echocardiography of those infants with a secundum ASD is of greater value than of those with muscular VSD or PDA.
PubMed: 38313288
DOI: 10.21203/rs.3.rs-3871102/v1 -
Frontiers in Cardiovascular Medicine 2023Lipomatous atrial septal hypertrophy (LASH) with atrial septal defect (ASD) is a rare congenital anomaly. Although LASH is a histologically benign cardiac lesion...
BACKGROUND
Lipomatous atrial septal hypertrophy (LASH) with atrial septal defect (ASD) is a rare congenital anomaly. Although LASH is a histologically benign cardiac lesion characterized by excessive fat deposition in the interatrial septum that spares the fossa ovale, it has been associated with supraventricular arrhythmias or sick sinus syndrome. Application of multimodal imaging is crucial for accurate diagnosis, appropriate treatment of LASH with ASD, and follow-up.
CASE SUMMARY
A 68-year-old female patient presented with recurrent chest tightness and palpitation. Multimodal imaging revealed the characterizations of LASH and ASD. Two-dimensional transesophageal echocardiography showed a "dumbbell"-shaped involvement of the cephalad and caudal regions with sparing of a single secundum ASD. The septum with a brightness feature is an uncommon condition characterized by the deposition of unencapsulated fat cells in the atrial septum. Real-time four-dimensional transesophageal echocardiography reflected the lipomatous hypertrophy of the atrial septum and an oval-shaped ASD. Cardiac computer tomography angiography later confirmed this finding. The patient achieved a good clinical response with an ASD percutaneous occlusion guided by intracardiac echocardiography (ICE).
CONCLUSION
This case demonstrates a LASH combined with ASD. Multimodality imaging can provide an accurate diagnosis and may guide the procedure for precise occlusion.
PubMed: 37680561
DOI: 10.3389/fcvm.2023.1245213 -
JNMA; Journal of the Nepal Medical... Aug 2023Hypoplastic left heart syndrome is a rare critical congenital heart defect constituting a prevalence of 1/3,500 to 1/12,500 live births in which there is obstructions to...
UNLABELLED
Hypoplastic left heart syndrome is a rare critical congenital heart defect constituting a prevalence of 1/3,500 to 1/12,500 live births in which there is obstructions to the blood flow within the left heart. Here we present a case of a full-term 38 weeks male baby with a birth weight of 3.5 kg, and no obvious physical deformity referred to our centre at 22 hours of life for respiratory distress and cyanosis. At 23 hours of life, he was diagnosed with hypoplastic left heart syndrome and kept on Prostaglandin E1 infusion till the 12th day of life. The baby had a large ventricular septal defect and atrial septal defect with a severely hypoplastic left ventricle, hypoplastic aortic root, ascending aorta and post-ductal coarctation of the aorta. The diagnosis was reconfirmed by computed tomography cardiac angiography on the 10th day of life with the same cardiac findings suggestive of hypoplastic left heart syndrome.
KEYWORDS
case reports; congenital heart disease; hypoplastic left heart syndrome.
Topics: Infant; Humans; Male; Hypoplastic Left Heart Syndrome; Heart Defects, Congenital; Birth Weight; Aorta
PubMed: 38289811
DOI: 10.31729/jnma.8243