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.

Epigenetic regulation of H3K27me3 in laying hens with fatty liver hemorrhagic syndrome induced by high-energy and low-protein diets.

BACKGROUND: Fatty liver hemorrhagic syndrome (FLHS) in the modern poultry industry is primarily caused by nutrition. Despite encouraging progress on FLHS, the mechanism through which nutrition influences susceptibility to FLHS is still lacking in terms of epigenetics. RESULTS: In this study, we analyzed the genome-wide patterns of trimethylated lysine residue 27 of histone H3 (H3K27me3) enrichment by chromatin immunoprecipitation-sequencing (ChIP-seq), and examined its association with transcriptomes in healthy and FLHS hens. The study results indicated that H3K27me3 levels were increased in the FLHS hens on a genome-wide scale. Additionally, H3K27me3 was found to occupy the entire gene and the distant intergenic region, which may function as silencer-like regulatory elements. The analysis of transcription factor (TF) motifs in hypermethylated peaks has demonstrated that 23 TFs are involved in the regulation of liver metabolism and development. Transcriptomic analysis indicated that differentially expressed genes (DEGs) were enriched in fatty acid metabolism, amino acid, and carbohydrate metabolism. The hub gene identified from PPI network is fatty acid synthase (FASN). Combined ChIP-seq and transcriptome analysis revealed that the increased H3K27me3 and down-regulated genes have significant enrichment in the ECM-receptor interaction, tight junction, cell adhesion molecules, adherens junction, and TGF-beta signaling pathways. CONCLUSIONS: Overall, the trimethylation modification of H3K27 has been shown to have significant regulatory function in FLHS, mediating the expression of crucial genes associated with the ECM-receptor interaction pathway. This highlights the epigenetic mechanisms of H3K27me3 and provides insights into exploring core regulatory targets and nutritional regulation strategies in FLHS.

Repair of a fistula between the aorta and right ventricular outflow tract secondary to infective endocarditis of a unicuspid aortic valve and previously repaired ventricular septal defect.

BACKGROUND: Infective endocarditis of the aortic valve can result in a wide range of destructive pathology beyond the valve leaflets and annulus which require careful surgical planning to provide appropriate debridement and reconstruction. Failure to do so can result in a failure of surgical treatment, recurrent infection and cardiac failure with concomitant high morbidity and mortality. CASE REPORT: We describe the case of a 45-year-old male with previous patch repair of a ventricular septal defect, who was diagnosed with sub-acute bacterial endocarditis of the native aortic valve and developed a new fistula from the aorta to the right ventricular outflow tract which. This was managed surgically. CONCLUSION: This unique case highlights another spectrum of infective endocarditis with a unique approach to repair and management.

Swiss Cheese Heart: A Tale of Multiple Valve Perforations.

Gerbode defect, an anomalous connection between the left ventricle and right atrium, is often congenital but can be acquired or iatrogenically formed. We present an exceedingly rare case of this defect associated with multiple valve perforation in an otherwise healthy patient with bicuspid aortic valve and endocarditis.

Simultaneous Transcatheter Closure of a Ventricular Septal Defect and Pulmonary Valvuloplasty: A Case Report.

BACKGROUND Congenital heart diseases (CHDs) are the most common form of birth defects, affecting the structure and function of neonatal hearts. Pulmonary valve stenosis (PVS) and ventricular septal defects (VSD) are 2 of the more prevalent forms, both of which can lead to significant morbidity if left untreated. The emergence of transcatheter techniques has revolutionized the therapeutic landscape, presenting minimally invasive yet effective alternatives to open-heart surgery and significantly reducing associated patient morbidity and recovery time. CASE REPORT The presented case details the management of a 19-year-old man with complex CHDs, highlighting the nuanced decision-making process that led to a transcatheter approach. The patient's clinical presentation, marked by symptoms reflective of significant cardiac compromise, demanded a tailored approach that utilized the latest advancements in non-surgical intervention. The successful closure of the VSD with an Amplatzer device and the resolution of PVS via balloon valvuloplasty were achieved without complications, showcasing the potential of these techniques in managing similar cases. The post-intervention period was marked by a noteworthy recovery, confirming the procedural efficacy and enhancing the patient's quality of life. CONCLUSIONS The favorable outcome of this case highlights the pivotal role of transcatheter interventions in treating complex CHDs and suggests a shift towards less invasive approaches in cardiac care. This case contributes valuable insights to the existing body of evidence, reinforcing the potential of transcatheter techniques to become the preferred treatment modality. With promising immediate and short-term results, these techniques highlight the need for continued research into their long-term efficacy and application across diverse patient demographics.

Population-based retrospective cohort study on community-acquired pneumonia hospitalization in children with a ventricular septal defect.

The cohort consisted of 9400 exposed children diagnosed with ventricular septal defect (VSD). The risk of community-acquired pneumonia (CAP) or asthma with VSD was assessed using the Cox proportional hazard model with an inverse probability of treatment weighting. During a mean follow-up of 6.67 years (starting from 12 months after birth), there were 2100 CAP admission cases among exposed patients (incidence rate: 33.2 per 1000 person-years) and 20,109 CAP admission cases among unexposed children (incidence rate: 29.6 per 1000 person-years), with hazard ration of 1.09 (95% CI 1.04-1.14).

Application of Computed Tomography Angiography in Preoperative Diagnosis of Coarctation of Aorta and Evaluation of Aortic Dilatation in Infants.

OBJECTIVE: To evaluate the occurrence of aortic dilatation and its associated predictors with coarctation of the aorta (CoA) in infants using multi-slice computed tomography (MSCT). METHODS: The clinical data of 47 infantile patients with CoA diagnosed by MSCT and 28 infantile patients with simple ventricular septal defect were analyzed retrospectively. Aortic diameters were measured at six different levels, and aortic sizes were compared by z score. The coarctation site-diaphragm ratio was used to describe the degree of narrowing. Relevant clinical data were collated and analyzed. RESULTS: The dilation rate and z score of the ascending aorta in the severe CoA group were significantly higher than those in the mild CoA group (11 [52.38%] vs. 21 [80.77%], P=0.038 and 2.00 ± 0.48 vs. 2.36 ± 0.43, P=0.010). Pearson's correlation analysis found that the z score of the ascending aorta was negatively correlated with the coarctation site-diaphragm ratio value (r=-0.410, P=0.004). A logistic retrospective analysis found that an increased degree of coarctation was an independent predictor of aortic dilatation (adjusted odds ratio 0.002; 95% confidence interval 0.00-0.819; P=0.043). The z score of the ascending aorta in the severe CoA group was significantly higher than that in the ventricular septal defect group (P<0.05). CONCLUSION: Most infants with CoA can also have significant dilatation of the ascending aorta, and the degree of this dilatation is related to the degree of coarctation. Assessment of aortic diameter and related malformations by MSCT can predict the risk of aortic dilatation in infants with CoA.

Complete Percutaneous Retrieval of Migrated VSD Occluder Device from the Pulmonary Artery: Management of a Catastrophic Complication.

Transcatheter closure of muscular ventricular septal defects (VSD) remains a safe and effective method with low complication rates. However, device migration can pose a significant challenge to interventional cardiologists due to potential mortal consequences. A 21-year-old female presented to our clinic with exertional dyspnea and was diagnosed with a muscular VSD. The defect was percutaneously closed using an Amplatzer occluder device. On the first post-procedural day, the patient experienced repeated episodes of coughing and mild hemoptysis. Imaging revealed migration of the VSD occluder device to the right pulmonary artery (PA). Percutaneous retrieval of the device was then decided upon. The right PA was accessed using a hydrophilic guidewire and a pigtail catheter. This catheter was exchanged for an 8-Fr sheathless guide catheter, and a 6-Fr Judkins right catheter was advanced into the right PA through the sheathless guide catheter using the mother-and-child technique. Multiple attempts using a snare were made to retrieve the migrated device. Eventually, the proximal marker point, the hub of the device, was grasped and pulled back from the PA, then externalized through the sheath without the need for surgical cutdown. Our report represents a case of complete percutaneous retrieval of an embolized VSD occluder device from the PA.

Simultaneous surgical repair of a cardiac myxoma causing left ventricular outflow tract obstruction and a ventricular septal defect in a small dog.

Background: Cardiac myxomas are benign tumours that can occur in any heart chamber or valve. They are extremely rare in dogs. We present a novel case involving a cardiac myxoma in the left ventricular outflow tract (LVOT) and a ventricular septal defect (VSD) in a small dog. Case Description: A female miniature dachshund (age, 7 months; weight, 2.88 kg) presented with growth insufficiency, lethargy, and a cardiac murmur. Echocardiography revealed a small polypoid mass in the LVOT and a membranous VSD. Simultaneous surgeries were performed to resect the mass (aortotomy) and close the VSD (right atriotomy) using low-flow cardiopulmonary bypass with surface-cooling hypothermia and retrograde cardioplegia. The tumour was histopathologically identified as a myxoma. The dog survived with no cardiac complications for 11 years after surgery. Conclusion: To our knowledge, this is the first report of ante-mortem diagnosis and simultaneous surgical repair of a cardiac myxoma obstructing the LVOT and a VSD in a small-breed dog. In addition to describing this complicated case, this report presents what we believe is the first reported use of retrograde cardioplegia during open-heart surgery in a small-breed dog.

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.

[Prenatal ultrasonographic manifestations and genetic diagnosis of nine fetuses with 7q11.23 duplication syndrome].

OBJECTIVE: To analyze ultrasonographic manifestations and genetic etiology of nine fetuses with 7q11.23 duplication syndrome. METHODS: Ultrasonographic finding, pregnancy outcome and follow-up of nine fetuses detected at the Prenatal Diagnosis Center of the Third Affiliated Hospital of Zhengzhou University from January 2017 to December 2021 were retrospectively analyzed. RESULTS: The fetuses were found to harbor a duplication in the 7q11.23 region by chromosomal microarray analysis (CMA). Among these, five had shown ventriculomegaly, including four syndromic and one non-syndromic. For the remainders, one had ventricular septal defect and mild tricuspid regurgitation, one had echogenic intracardiac focus, whilst another two were normal. Five couples had accepted parental verification, and the results confirmed that the 7q11.23 duplication carried by their fetuses were de novo in origin. Following genetic counseling, seven couples had opted to terminate their pregnancies. Two fetuses were delivered at full term, and follow-up had found no abnormalities. CONCLUSION: Prenatal ultrasonographic manifestations of fetuses with 7q11.23 duplication syndrome are variable. CMA can provide assistance for their diagnosis and genetic counseling.

En Bloc Rotation of the Outflow Tracts - Double Root Translocation.

En bloc rotation of the outflow tracts or double root translocation offers an anatomic repair of transposition of the great arteries, ventricular septal defect, and left ventricular outflow tract obstruction and closely related forms of double outlet right ventricle. The technical principle is to excise aortic and pulmonary root en bloc, rotate them as a whole by 180°, and reimplant them. The left ventricular outflow tract is enlarged with the patch closing the ventricular septal defect. In our experience, two thirds of the pulmonary valves could be preserved. Growth of the aortic and pulmonary root could be demonstrated in several studies performed by our group. It is still a complex and technically demanding procedure with long cardiopulmonary bypass periods and cross-clamp times. However, perioperative mortality and complications do not differ significantly from other forms of reconstruction. The reoperation rate is significantly lower. Presently, the best time to perform this operation seems to be after the newborn period within the first year of life.

Pulmonary artery dissection secondary to ventricular septal defect and pulmonary valve stenosis.

The aortic short axis view demonstrated the widening of the pulmonary artery and the membrane-like echo in the pulmonary artery divided it into true lumen and false lumen. And the flow of the ruptured openings on the band-like echo was clearly revealed by Color Doppler.

Successful interventional occlusion of muscular ventricular septal defect in a dog.

Ventricular septal defect (VSD) is a rare congenital heart disease in dogs. Hemodynamically important interventricular defects must be closed to improve the prognosis. This case report describes successful interventional transcatheter closure of a muscular VSD in a young Maltese and poodle mixed-breed dog with a large muscular interventricular defect (~5 mm in diameter) with a high rate of left-to-right shunt flow. The VSD was closed with a customized Amplatzer-type VSD occluder via a percutaneous transvenous (jugular) approach. We concluded that interventional occlusion of a muscular VSD with an Amplatzer-type occluder is a viable treatment option for dogs. A regular follow-up study for this dog is ongoing and has not detected complications. Key clinical message: Interventional occlusion of a muscular VSD with an Amplatzer-type occluder is a viable treatment option for dogs.

Occlusion interventionnelle réussie d'une communication interventriculaire musculaire chez un chien. La communication interventriculaire (VSD) est une maladie cardiaque congénitale rare chez le chien. Les anomalies interventriculaires hémodynamiquement importantes doivent être fermées pour améliorer le pronostic. Ce rapport de cas décrit la fermeture interventionnelle réussie par cathéter d'un VSD musculaire chez un jeune chien de race mixte (maltais et caniche) présentant un défaut interventriculaire musculaire important (~5 mm de diamètre) avec un débit de shunt élevé de gauche à droite. Le VSD a été fermé avec un obturateur VSD personnalisé de type Amplatzer via une approche trans-veineuse percutanée (jugulaire). Nous avons conclu que l'occlusion interventionnelle d'un VSD musculaire avec un obturateur de type Amplatzer est une option de traitement viable pour les chiens. Une étude de suivi régulière de ce chien est en cours et aucune complication n'a été détectée.Message clinique clé :L'occlusion interventionnelle d'un VSD musculaire avec un obturateur de type Amplatzer est une option de traitement viable pour les chiens.(Traduit par Dr Serge Messier).

ING4 and ING5 are essential for histone H3 lysine 14 acetylation and epicardial cell lineage development.

Inhibitor of growth 4 and 5 (ING4, ING5) are structurally similar chromatin-binding proteins in the KAT6A, KAT6B and KAT7 histone acetyltransferase protein complexes. Heterozygous mutations in the KAT6A or KAT6B gene cause human disorders with cardiac defects, but the contribution of their chromatin-adaptor proteins to development is unknown. We found that Ing5-/- mice had isolated cardiac ventricular septal defects. Ing4-/-Ing5-/- embryos failed to undergo chorioallantoic fusion and arrested in development at embryonic day 8.5, displaying loss of histone H3 lysine 14 acetylation, reduction in H3 lysine 23 acetylation levels and reduced developmental gene expression. Embryonic day 12.5 Ing4+/-Ing5-/- hearts showed a paucity of epicardial cells and epicardium-derived cells, failure of myocardium compaction, and coronary vasculature defects, accompanied by reduced expression of epicardium genes. Cell adhesion gene expression and proepicardium outgrowth were defective in the ING4- and ING5-deficient state. Our findings suggest that ING4 and ING5 are essential for heart development and promote epicardium and epicardium-derived cell fates and imply mutation of the human ING5 gene as a possible cause of isolated ventricular septal defects.

Navigating the spectrum of double-outlet right ventricle presentations: Outcomes from a contemporary cohort based on subtypes.

PURPOSE: Our aim in this study was to investigate the prenatal and postnatal prognosis of double outlet right ventricle (DORV) cases diagnosed prenatally by analyzing the outcomes based on the subtype. METHODS: This study is a retrospective chart review. Cases diagnosed with fetal DORV by prenatal ultrasound in the maternal-fetal medicine department of our hospital between 2014 and 2022 were included. Data on maternal characteristics, fetal echocardiographic features (type of DORV), pregnancy and neonatal outcomes (termination of pregnancy [TOP], intrauterine fetal death [IUD], neonatal death [NND], death in infancy (IND), survival) were collected and analyzed. RESULTS: Ninety-nine cases of prenatally diagnosed cases of DORV were included. The prenatal diagnosis was right in 97% of the liveborn fetuses. The cases were classified into subtypes, including transposition of great arteries (TGA), Fallot, ventricular septal defect (VSD), remote, and heterotaxy types. The cohort consisted of 32.3% TGA type, 19.1% fallot type, 11.1% VSD type, 2% remote type, and 35.3% heterotaxy type of DORV. An additional cardiac anomaly was observed in 87% and an extra-cardiac anomaly was observed in 54% of the cases. When we excluded the cases with heterotaxy type but without any chromosomal abnormality, additional genetic abnormalities were detected in 42% of the remaining cases. Outcome of pregnancy was livebirth in 68/99 (68.7%), IUFD in 5/99 (5.1%), and TOP in 26/99 (26.3%). Postnatal cardiac surgical repair was performed in 48 cases. Survival among livebirths was 39/68 (57.3%). Twenty-nine neonates or infants who had additional cardiac anomalies and/or genetic abnormalities died before any surgical intervention. The postoperative survival rate was 39/48 (81.2%). CONCLUSION: The prognosis in DORV depends on the anatomical subtype, the presence, and severity of associated anomalies. Survival increases in isolated cases without any additional structural or genetic anomalies.

Two-Dimensional and Doppler trans-thoracic echocardiographic patterns of suspected pediatric heart diseases at Tibebe--Ghion specialized Teaching Hospital and Adinas General Hospital, Bahir Dar, North-west Ethiopia:-An experience from an LMIC.

BACKGROUND: Transthoracic Echocardiography is the first-line, non-invasive, and accessible imaging modality to evaluate heart disease anatomy, physiology, and hemodynamics. We aim to describe the trans-thoracic echocardiography pattern of pediatric heart diseases and reasons for referral in children referred to Bahir Dar University Tibebe-Ghion Hospital and Adinas General Hospital. METHOD: A descriptive cross-sectional study of the archived Transthoracic, Two Dimensional, and Doppler Echocardiography assessments of children from birth to fifteen years of age performed between June 2019 to May 2023 was done. Data were collected retrospectively from February 01, 2023 -May 31, 2023. Categorical variables like gender, referral reasons for echocardiography, and patterns of pediatric heart lesions were analyzed in the form of proportions and presented in tables and figures. Discrete variables including age were summarized as means (SD) and medians(IQR). RESULTS: Out of 3,647 Children enrolled; 1,917 (52.6%) were males and 1,730 (47.4%) were females. The median (IQR) age of children enrolled was 24 months (5 to 96). Cardiac murmur (33%) was the most common reason for echocardiography followed by, Respiratory Distress (18%), Syndromic Child (15%), easy fatigability/ Diaphoresis (14.3%), congestive heart failure (14%), and rheumatic fever (13.2%). Congenital heart defect (CHD) accounts for 70% of all heart diseases, followed by rheumatic heart disease (21%). Isolated ventricular septal defect(VSD) was the most common CHD (21%) followed by isolated Patent ductus arteriosus (15%), isolated atrial septal defect (10%), Isolated atrioventricular septal defect (6%) and isolated pulmonary stenosis (5%). Cyanotic CHD accounts for 11.5% of all heart diseases. Tetralogy of Fallot (30%), d-TGA (20%), and double outlet right ventricle (19%) were the most common cyanotic CHDs. CONCLUSIONS: In our study, congenital heart lesions are the most common diagnosis and cardiac murmurs are the most common presenting reasons for echocardiography evaluation.