Double trouble - dual outflow tract obstruction in congenital heart disease: a case report.

BACKGROUND: Double chambered right ventricle is a rare congenital heart disease that is characterised by the presence of an anomalous muscle bundle that divides the right ventricle into a low pressure superior (distal) chamber and a high pressure inferior (proximal) chamber. It is found in association with a ventricular septal defect in 90% cases with other associations being tetralogy of Fallot, transposition of great vessels, atrial septal defect and Ebstein's anomaly. On the other hand, subaortic membrane is a form of discrete subaortic stenosis that is characterised by a membranous diaphragm in the subvalvular location of the left ventricular outflow tract. Both of these entities are responsible for causing subvalvular outflow tract obstruction. The occurrence of double chambered right ventricle in association with subaortic membrane is an extremely rare entity with only a few case reports available in the literature. CASE REPORT: A 13-year-old male child with history of chest pain and palpitations presented to the outpatient department of a tertiary care center. Transthoracic echocardiography revealed a subaortic membrane producing a pressure gradient across the left ventricular outflow tract with dilatation of the right atrium and right ventricle which could not be fully evaluated on echocardiography. Cardiac computed tomography was then performed which additionally revealed an anomalous muscle bundle coursing across the right ventricle from the septum to the subinfundibular region creating a double chambered right ventricle. The patient was then taken up for reconstruction of right ventricular outflow tract and resection of subaortic membrane. CONCLUSION: Right and left outflow tract obstructions are rare congenital lesions which when seen in combination, become even more infrequent. Echocardiography is a robust tool that detects turbulent flow to identify such lesions. However, poor acoustic window may sometimes result in missing these lesions and computed tomography in such situations can play an important role in detection as well as complete preoperative imaging evaluation.

Association study of FLT4 and HYDIN single nucleotide polymorphisms with atrial septal defect susceptibility in the Han Chinese population of Southwest China.

BACKGROUND: Atrial septal defect (ASD) is a common form of congenital heart disease. Although several genes related to ASD have been found, the genetic factors of ASD remain unclear. This study aimed to evaluate the correlation between 10 candidate single nucleotide polymorphisms (SNPs) and sporadic atrial septal defects. METHODS: Based on the results of 34 individual whole exome sequences, 10 candidate SNPs were selected. In total, 489 ASD samples and 420 normal samples were collected. The 10 SNPs in the case group and the control group were identified through Snapshot genotyping technology. The χ2-test and unconditional regression model were used to evaluate the relationship between ASD and each candidate SNP. Haploview software was used to perform linkage disequilibrium and haplotype analysis. RESULTS: The χ2 results showed that the FLT4 rs383985 (P = 0.003, OR = 1.115-1.773), HYDIN rs7198975 (P = 0.04621, OR = 1.003-1.461), and HYDIN rs1774266 (P = 0.04621, OR = 1.003-1.461) alleles were significantly different between the control group and the case group (P < 0.05). Only the association with the FLT4 polymorphism was statistically significant after adjustment for multiple comparisons. CONCLUSION: These findings suggest that a possible molecular pathogenesis associated with sporadic ASD is worth exploring in future studies.

The Impact of Transcatheter or Surgical Defect Closure on Self-Reported Sleep Quality in Adults with Atrial Septal Defect.

OBJECTIVE: Sleep quality in those with cardiovascular disease is significantly lower than in the general population. This study aimed to explore the effect of transcatheter or surgical closure of atrial septal defect (ASD) on sleep quality. METHODS: One hundred nineteen adult patients with ASD who underwent transcatheter or surgical closure were included in the study. Sleep quality was investigated prospectively just before defect closure and six months after defect closure. Pittsburgh Sleep Quality Index (PSQI) was used to evaluate sleep quality of these patients. RESULTS: PSQI scores were similar in both groups before the procedure in patients who underwent both transcatheter and surgical closure. The PSQI scores six months after transcatheter closure was significantly improved compared to the PSQI score before transcatheter ASD closure (3.5 ± 2.0 vs. 6.9 ± 3.4, respectively; P<0.001). The PSQI scores six months after surgical ASD closure was significantly improved compared to the PSQI score before surgical closure (4.8 ± 2.1 vs. 7.1 ± 2.0, respectively; P<0.001). Total PSQI scores were also statistically different at six months after transcatheter and surgical closure (3.5 ± 2.0 vs. 4.8 ± 2.1, P=0.014). However, six months after both transcatheter and surgical closure, PSQI scores were significantly decreased in both groups which was more pronounced in patients who underwent transcatheter closure. CONCLUSION: Transcatheter or surgical closure of the defect may be beneficial in improving the sleep quality of adult patients with ASD. Delayed improvement of sleep quality after surgical closure may be an important advantage for transcatheter closure.

Alpha gal syndrome, a relative not absolute contraindication to the use of bovine pericardium to close an intracardiac septal defect: a case report.

BACKGROUND: Alpha-gal syndrome is an allergic condition in which individuals develop an immune-mediated hypersensitivity response when consuming red meat and its derived products. Its diagnosis is important in individuals undergoing cardiac surgery, as patients frequently require large doses of unfractionated heparin or the insertion of surgical implants, both of which are porcine or bovine in origin. There are currently no guidelines for heparin administration in alpha-gal patients, with even less knowledge regarding the long-term clinical implications of these patients after receiving bioprosthetic valve replacements or other prostheses. CASE PRESENTATION: We present the case of a 31-year-old male who underwent cardiac surgery in the setting of alpha-gal syndrome for a large atrial septal defect (ASD) and mitral valve prolapse (MVP). The patient continues to do well one year after undergoing a mitral valve repair, tricuspid valve repair and an ASD closure using bovine pericardium. He sustained no adverse reaction to the use of heparin products or the presence of a bovine pericardial patch. This rare case was managed by a multidisciplinary team consisting of cardiothoracic surgery, cardiac anesthesiology, and allergy/immunology that led to an optimal outcome despite the patient's pertinent allergic history. CONCLUSIONS: This case highlights that the use of bovine pericardium and porcine heparin to close septal defects in patients with milder forms of alpha-gal allergy can be considered if other options are not available. Further studies are warranted to investigate the long-term outcomes of such potential alpha-gal containing prostheses and heparin exposure and establish the optimal decision making algorithm and prophylactic regimen.

A case report of atrial septal puncture "mistakenly" penetrated the aorta during left bypass radiofrequency ablation.

INTRODUCTION: Transseptal punctures (TSPs) are widely used in left atrium and left ventricle surgery. Accidental puncture of the puncture needle into the aorta is a rare complication that is rarely reported but has serious consequences. The appropriate management of this complication remains unclear. PATIENT CONCERNS: This report describes a case of a male with the chief complaint: paroxysmal palpitation for 1 year, aggravated for 1 month. DIAGNOSIS: The electrophysiological diagnosis was atrioventricular reentrant tachycardia caused by left-side bypass. INTERVENTIONS: Radiofrequency ablation of the heart was a necessary treatment and a TSP operation was needed, in which a puncture was mistakenly believed to have entered the aorta, a series of measures were taken urgently. Although the surgical procedure in this case was a false alarm, we still initiated a series of emergency plans. Emergency measures to address the complications were effectively implemented, and the emergency measures were promptly terminated after it was clear that complications had been misjudged. OUTCOMES: At last, it was confirmed that the angiogram was a pulmonary artery image, not an aorta image. Then the atrial septal puncture operation was successfully completed, and under the guidance of the Carto system, the ablation was successfully completed. Postoperative fluoroscopy showed no complications, such as pericardial effusion. After 2 years of follow-up, there was no reoccurrence of tachycardia, and there were no complications. It is crucial that emergency procedures are terminated in a timely manner after a clear miscarriage of performance. Although accidental puncture into the aorta is urgent and serious, performing a blockage or even thoracotomy in an emergency if complications are not clearly confirmed can cause further damage to the patient and would be a definitively wrong strategy. CONCLUSION: Strict and standardized TSP operations can avoid complications. Correct judgment of the authenticity of complications is crucial, and remedial measures that may cause further damage should not be blindly adopted. The retention of the aortic guide wire can provide convenient access for further differential diagnosis and remedial treatment.

Right disc thrombosis of the new Gore Cardioform ASD Occluder.

BACKGROUND: The GCA is a well performing device in terms of efficacy despite complex anatomies (aortic rim <5 mm and ASD diameter >17 mm) with a good safety profile. AIMS: To evaluate atrial septal defect (ASD) features impacting on right disc device thrombosis in patients who underwent Gore Cardioform ASD Occluder (GCA) implantation. METHODS: A total of 44 consecutive patients undergoing percutaneous ASD with GCA device from January 2020 to September 2022 at our tertiary care Center were evaluated. The minimum follow-up was 6 months. RESULTS: The patients were stratified in two groups according to a cut-off value of ASD diameter equal to 20 mm at sizing balloon, derived from ROC analysis (AUC = 0.894; p = 0.024). Baseline characteristics were comparable between groups in terms of age, sex, weight, height, and interatrial septum dimensions. Patients with ASD > 20 mm (n = 9) had a higher ASD/device dimension ratio, both at echocardiography (p = 0.009) and at sizing balloon (p = 0.001), longer fluoroscopic time (p = 0.022), and higher incidence of device thrombosis (0.006). Right disc thrombosis was observed in three patients of the ASD > 20 mm group, always in the inferior portion of the right disc. On univariate analysis, ASD diameter at sizing balloon (OR 1.360; p = 0.036) was the only positive predictor of device thrombosis. CONCLUSIONS: Right disc thrombosis of the GCA device may be under-recognized at follow-up, hence deserving clinical attention, especially in those patients with larger ASD diameters.

Transcatheter closure of atrial septal defect using intracardiac echocardiography: a two-center, retrospective study.

AIMS: We present the experience and long-term results of intracardiac echocardiography (ICE)-guided closure of ostium secundum atrial septal defects (ASDs) in two Italian centers and investigate its systematic applicability as the gold standard in routine clinical practice. METHODS: We retrospectively evaluated all consecutive patients who underwent an ASD percutaneous closure procedure from March 2008 to February 2020. All patients underwent a preprocedural transesophageal echocardiography (TEE) evaluation. The closures were carried out under fluoroscopic and ICE guidance. A follow-up visit was performed at 1, 3 and 12 months, followed by telephone evaluations approximately every 2 years. RESULTS: Sixty-six patients (29% male individuals), mean age 43 ±â€Š16 years, were treated. In 15 cases, the TEE defect diameter was less than 10 mm, and in 8 of these patients, the ICE intraprocedural sizing increased the maximum diameter by more than 5 mm. Sizing balloon of the defect was performed in 51 cases; 2 patients received an ASD 38 mm device. Eight patients had multiple defects; in three of these, it was necessary to apply two devices. Four patients showed nonsignificant residual shunt; no complications related to the use of ICE were observed. One patient presented the migration of the ASD device into the abdominal aorta, percutaneously retrieved with a snare. No major complications were recorded during the entire follow-up period. CONCLUSION: This study confirms that ICE monitoring during ASD percutaneous closure is well tolerated and effective; it might be achievable as a routine gold standard by operators willing to use ICE systematically in all transcatheter closure interventions of interatrial communications.

Trends of mortality rate in patients with congenital heart defects in Germany-analysis of nationwide data of the Federal Statistical Office of Germany.

BACKGROUND: Congenital heart defects (CHD) are still associated with an increased morbidity and mortality. The aim of this study was to analyze trends of mortality rates in patients with CHD between 1998 and 2018 in Germany. METHODS: Data of registered deaths with an underlying diagnosis of CHD were used to evaluate annual mortality between 1998 and 2018. Polynomial regressions were performed to assess annual changes in CHD-associated mortality rates by age groups. RESULTS: During the 21-year study period, a total of 11,314 deaths were attributed to CHD with 50.9% of deaths in infants (age < 1 year) and 28.2% in neonates (age ≤ 28 days). The most frequent underlying CHDs associated with death were hypoplastic left heart syndrome (n = 1498, 13.2%), left ventricular outflow tract obstruction (n = 1009, 8.9%), atrial septal defects (n = 771, 6.8%), ventricular septal defects (n = 697, 6.2%), and tetralogy of Fallot (n = 673, 5.9%), and others (n = 6666, 58.9%). Among all patients, annual CHD-related mortality rates declined significantly between 1998 and 2010 (p < 0.0001), followed by a significant annual increase until 2018 (p < 0.0001). However, mortality rates in 2018 in all ages were significantly lower than in 1998. CONCLUSION: Mortality in CHD patients decreased significantly between 1998 and 2010, but a substantial number of deaths still occurred and even significantly increased in the last 3 years of the observation period particularly in neonates and infants. This renewed slight increase in mortality rate during the last years was influenced mainly by high-risk neonates and infants. Assessment of factors influencing the mortality rate trends in association with CHD in Germany is urgently needed. Obligatory nationwide registration of death cases in relation to surgical and catheter interventions in CHD patients is necessary to provide additional valuable data on the outcome of CHD.

Complete free wall isolation of arrhythmogenic persistent left superior vena cava.

INTRODUCTION: Persistent left superior vena cava (PLSVC) is one of the major sources of triggers and drivers of atrial fibrillation (AF). There has been no established PLSVC ablation procedure to eliminate the arrhythmogenicity along the entire length of PLSVC. METHODS AND RESULTS: A 70-year-old woman with a history of two previous catheter ablations for AF, mitral valvuloplasty, and an unroofed coronary sinus-type atrial septal defect closure underwent the redo AF ablations. The AF trigger and driver were identified within the patient's enlarged PLSVC. The AF was treated by complete PLSVC free wall isolation. CONCLUSION: Complete PLSVC free wall isolation may be an effective ablation method to eliminate the arrhythmogenicity along the entire length of the PLSVC.

Various techniques for transcatheter retrieval of the atrial septal defect or patent foramen ovale closure devices: a systematic review.

Atrial septal abnormalities are common congenital lesions that remain asymptomatic in many patients until adulthood. Adults with atrial septal defects (ASD) most commonly have ostium secundum ASD. Transcatheter closure has become increasingly popular in recent years as a successful alternative method to surgery for treating ASD and patent foramen ovale (PFO). The overall rate of ASD transcatheter closure device embolization has been reported to be less than 1%; however, retrieving the device via surgery or by trans-catheter route can be necessary. The current manuscript describes a systematic review of the techniques used to retrieve ASD closure devices, as well as their success rates, complications, and limitations. A comprehensive search was performed covering various databases including PubMed, MEDLINE, SCOPUS, Google Scholar, and Cochrane Library from inception until April 2022 for English-published case reports, case series, and experimental studies investigating the indications, safety, and limitations of ASD closure and ASD device retrieval by trans-catheter approaches. Finally, 20 studies were included in our review. Our findings showed that most of the studies used a single snare technique; of these, all but one reported 100% success. Double tool retrieval methods (snare plus snare, snare plus bioptome, or snare plus forceps) and the gooseneck snare technique yielded 100% success. One study that used the lasso technique reported unsuccessful retrieval and the need for surgical intervention. More recently, the novel "coronary wire trap technique" was introduced, which provides a simpler method for embolized device removal by trapping the device for retrieval using coronary wire.

Rare case of total anomalous pulmonary venous return into the right atrium in situs solitus.

We report an uncommon case report of total anomalous pulmonary venous returns into the right atrium at the base of the superior caval vein's ostium without a sinus venosus defect, in situs solitus, without vertical vein or a posterior pulmonary venous confluence.

TBX5 variants and cardiac phenotype: A systematic review of the literature and a novel variant.

T-Box Transcription Factor 5 (TBX5) variants are associated with Holt-Oram syndrome. Holt-Oram syndrome display phenotypic variability, regarding upper limb defects, congenital heart defects, and arrhythmias. To investigate the genotype-phenotype relationship between TBX5 variants and cardiac disease, we performed a systematic review of the literature. Through the systematic review we identified 108 variants in TBX5 associated with a cardiac phenotype in 277 patients. Arrhythmias were more frequent in patients with a missense variant (48% vs 30%, p = 0.009) and upper limb abnormalities were more frequent in patients with protein-truncating variants (85% vs 64%, p = 0.0008). We found clustering of missense variants in the T-box domain. Furthermore, we present a family with atrial septal defects. By whole exome sequencing, we identified a novel missense variant p.Phe232Leu in TBX5. The cardiac phenotype included atrial septal defect, arrhythmias, heart failure, and dilated cardiomyopathy. Clinical examination revealed subtle upper limb abnormalities. Thus, the family corresponds to the diagnostic criteria of Holt-Oram syndrome. We provide an overview of cardiac phenotypes associated with TBX5 variants and show an increased risk of arrhythmias associated to missense variants compared to protein-truncating variants. We report a novel missense variant in TBX5 in a family with an atypical Holt-Oram syndrome phenotype.

Natural History of Secundum ASD in Preterm and Term Neonates: A Comparative Study.

Atrial septal defects (ASDs) are common in neonates. Although past studies suggest ASDs  ≥ 3 mm in term neonates (TNs) are less likely to close, there is paucity of data regarding the natural history in preterm neonates (PNs), information that would inform surveillance. We sought to compare spontaneous closure rates and need for intervention for ASDs in TNs/near term (≥ 36 weeks) versus PNs (< 36 weeks). We included all TNs and PNs who underwent echocardiography at ≤ 1 month between 2010 and 2018 in our institution with an ASD ≥ 3 mm, without major congenital heart disease, and with repeat echocardiogram(s). Spontaneous resolution was defined as size diminution to < 3 mm or closure. We included 156 TNs (mean gestational age at birth 38.6 ± 1.4 weeks) and 156 PNs (29.6 ± 3.7 weeks) with a mean age at follow-up of 16 ± 19 and 15 ± 21 months, respectively (p = 0.76). Based on maximum color Doppler diameter, in TNs, ASD resolution occurred in 95% of small (3-5 mm), 87% of moderate (5.1-8 mm), and 60% of large (> 8 mm) defects; whereas, in PNs, resolution occurred in 79% of small, 76% of moderate, and 33% of large ASDs. There was a significant association between size and ASD resolution in TNs (p = 0.003), but not PNs (p = 0.17). Overall, ASD resolution rate was higher in TNs (89%) versus PNs (78%) (p = 0.009), and fewer TNs (1%) compared to PNs (7%) required ASD intervention (p = 0.02). Most ASDs identified in TNs and PNs spontaneously resolve. PNs, however, demonstrate lower ASD resolution and higher intervention rates within all size groups. These data should inform follow-up of affected neonates.

Bedside Ultrasound to Guide the Diagnosis and Treatment of Fulminant Right Heart Failure: A Case Report.

BACKGROUND Right ventricular (RV) failure can result from acute or chronic cardiac or pulmonary conditions, or both, resulting in increased afterload, reduced contractility, changes in preload, ventricular interdependence, or dysrhythmias. Notably, increased afterload, particularly among previously healthy individuals, is often the primary cause of RV failure in cases of pulmonary and cardiac origin. Massive pulmonary thromboembolism is a common cause of impending RV failure, and chronic conditions like atrial septal defects can also contribute to pulmonary hypertension. CASE REPORT A 72-year-old patient, with no known past medical history, presented to the emergency department in profound shock, rapidly progressing to cardiorespiratory arrest. Bedside ultrasound revealed marked right chambers dilatation, severe mitral and tricuspid insufficiency, a large atrial septal defect, mild pericardial effusion, and global hypokinesia. This case illustrates how multiple mechanisms of RV dysfunction can converge, leading to fulminant RV failure and subsequent cardiac arrest, including increased afterload, decreased contractility, dysrhythmias, and ventricular interdependence. CONCLUSIONS This article emphasizes the usefulness of bedside ultrasound in diagnosing and elucidating the causes of circulatory collapse. In this patient, ultrasound played an important role in identifying 3 contributing factors: chronic RV overload from an extensive atrial septal defect, left ventricular impact due to ventricular interdependence, and acute pulmonary thromboembolism. Being aware of these factors, along with the practicality of bedside ultrasound, allowing emergency physicians to make prompt diagnoses and effectively manage RV failure-related emergencies.

Risk factors for isolated atrial septal defect secundum morbidity.

Atrial septal defect secundum is a common type of congenital heart defect and even more common among children born premature. The aim of this study was to assess premature birth as a potential associated risk factors for cardiac morbidity in children with isolated ASD II. In this retrospective national registry-based case-control study all children born in Sweden between 2010 and 2015 with an isolated ASD II diagnosis were included. Association between premature birth and cardiac morbidity in children with isolated ASD II was assessed by different outcomes-models using conditional logistic regression and adjustments were made for confounding factors. Overall, 11% of children with an isolated ASD II received treatment for heart failure. Down syndrome was the only independent risk factors for associated with cardiac morbidity in children with ASD II (OR = 2.25 (95%CI 1.25-4.07). Preterm birth in children was not associated with an increased risk of ASD II cardiac morbidity.