Atrioventricular Septal Defect Research Articles

Electrophysiological characteristics of tachyarrhythmia and effects of catheter ablation in patients with Fontan circulation

Abstract Introduction Incidence of arrhythmia in complex congenital heart disease is higher than general population. Characteristics of arrhythmia in patients with functional single ventricle is not known. Methods Total 18 patients (age, 22.1 8.5 years, 9 men) with Fontan circulation who had undergone catheter ablation for tachyarrhythmia were retrospectively consecutively included. Characteristics of congenital heart disease, mechanisms of tachyarrhythmia, and efficacy and safety of catheter ablation were analyzed. Results Congenital heart diseases of the patients were as follows: double outlet right ventricle, 9; common atrioventricular septal defect, 5; and pulmonary atresia, 4. Fontan types were as follows: lateral tunnel Fontan, 9; extracardiac conduit Fontan 9. Fontan conduit puncture was successful in all patients. Mechanisms of tachyarrhythmia were as follows: intraatrial macroreentrant tachycardia, 8; focal atrial tachycardia, 4; atrioventricular nodal reentrant tachycardia, 3; twin atrioventricular nodal reciprocating tachycardia, 2; unknown, 2. Success rate of catheter ablation, recurrence rate, and complication rate were 16 of 18 patients, 2 of 18 patients, and 0 of 18 patients, respectively. Conclusion Intraatrial macroreentrant tachycardia is the most common tachycardia mechanism in patients with Fontan circulation. Catheter ablation for tachyarrhythmia is effective and safe in these population.

A novel MED12 pathogenic variant in a female fetus with facial cleft and cardiac defects identified in the first trimester.

Trio exome sequencing was performed on a female fetus with an increased nuchal translucency, along with nasal bone hypoplasia, suspected cleft palate and abnormal outflow tract of the heart. A de novo heterozygous variant c.5500_5507del, p.(Tyr1834Argfs × 58) in the MED12 gene was detected. Loss-of-function variants in MED12 in females are associated with Hardikar syndrome (HS). A follow-up ultrasound at 15+5weeks of gestation identified multiple fetal anomalies including bilateral cleft lip and palate, diaphragmatic hernia, atrioventricular septal defect, persistent truncus arteriosus, and bilateral renal pelvis dilation. Fetal autopsy confirmed the prenatal sonographic findings, and the MED12 variant was discussed by our multidisciplinary team to be the cause of fetal anomalies. Our case is the first prenatal one in which HS was diagnosed due to first trimester structural malformations. This case report presents another example of early identification of a major anomaly which allows earlier genetic diagnosis and more time for clinical management.

Eisenmenger syndrome presenting with chronic thromboembolic disease

Eisenmenger syndrome is characterized by the reversal of blood flow due to increased pulmonary vascular resistance. It can be prevented with early diagnosis and surgical treatment. Thromboembolism is a leading cause of death in patients with Eisenmenger syndrome. Pulmonary endarterectomy is the primary treatment, but medical treatments may be considered in inoperable cases. Regular follow-up and a multidisciplinary approach are important for diagnosis and treatment. Lifestyle changes and medical therapy can improve patient's quality of life and prevent complications. Our case is presented because of the chronic thromboembolic disease in addition to the pulmonary hypertension due to the partial atrioventricular septal defect and the management of the treatment.

WHEN CLINICAL FINDINGS TAKE YOU DOWN THE WRONG PATH: PERSISTENT FEVER IN A PATIENT WITH PREVIOUS CARDIAC SURGERY

Abstract Introduction In a patient who underwent previous cardiac surgery, persistent fever may be related to endocarditis. Symptoms and cardiovascular imaging, such as echocardiogram and PET/CT, may guide clinicians and surgeons to the correct diagnosis. Discussion A 43–years–old man came to our attention because of persistent fever (lasting several months) associated with cough and asthenia. When he was 5 years old, he underwent cardiac surgery for partial atrioventricular canal defect (atrial septal defect was about 4 cm) and mitral valve cleft. 14 years ago he undertook chemotherapy due to Hodgkin‘s lymphoma. Recently a cerebral artery aneurysm, radiologically defined as mycotic but proved to be fusiform, was diagnosed and treated with neurosurgery. During a recent hospitalization, blood culture positive for Streptococcus Mitis and brachial rash were reported and antibiotic therapy was started. Suspecting endocarditis, he was referred to our department. Echocardiogram revealed anterior mitral leaflet fissure, resulting in severe mitral regurgitation. Moreover a periannular cavity of doubtful interpretation (seemingly an abscess) was described. Subsequent 18FDG–PET/CT did not detect any abnormal cardiac metabolic activity. Due to severe valve regurgitation, cardiac surgery was performed: myxomatous degenerative mitral valve leaflets, failure of mitral valve cleft closure and anomalous coronary sinus communication to the left atrium (mimicking echocardiogram findings of suspected empty abscess cavity) were observed. Thus mitral valve replacement using a biological valve prosthesis was performed. Macroscopically there was no evidence of endocarditis, confirming PET/CT scan results. During the post–surgery period, third–degree atrioventricular block episodes were noted. Therefore a bicameral pacemaker was implanted. Conclusions This case report demonstrates the importance of not stopping at the first impression, as failure of previous mitral valve repair in a patient presented with persistent fever can mimic endocarditis. Therefore, the results of diagnostic tests should be compared to patients’ medical history and their clinical presentation.

Impact of trisomy 21 on late surgical management results in patients with common atrioventricular septal defect: single-center experience.

Impact of trisomy 21 on late surgical management results in patients with common atrioventricular septal defect: single-center experience.

Maternal obesity, interpregnancy weight changes and congenital heart defects in the offspring: a nationwide cohort study.

To evaluate the association between maternal BMI and congenital heart defects (CHDs) in the offspring when including live births, stillbirths, aborted and terminated pregnancies and to investigate if maternal interpregnancy weight changes between the first and second pregnancy influences the risk of foetal CHDs. A nationwide cohort study of all singleton pregnancies in Denmark from 2008 to 2018. Data were retrieved from the Danish Foetal Medicine Database, which included both pre- and postnatal diagnoses of CHDs. Children or foetuses with chromosomal aberrations were excluded. Odds ratios were calculated with logistic regression models for CHDs overall, severe CHDs and five of the most prevalent subtypes of CHDs. Of the 547 105 pregnancies included in the cohort, 5 442 had CHDs (1.0%). Risk of CHDs became gradually higher with higher maternal BMI; for BMI 25-29.9 kg/m2, adjusted odds ratio (aOR) 1.17 (95% CI 1.10-1.26), for BMI 30-34.9 kg/m2, aOR 1.21 (95% CI 1.09-1.33), for BMI 35-39.9 kg/m2, aOR 1.29 (95% CI 1.11-1.50) and for BMI ≥ 40 kg/m2, aOR 1.85 (95% CI 1.54-2.21). Data was adjusted for maternal age, smoking status and year of estimated due date. The same pattern was seen for the subgroup of severe CHDs. Among the atrioventricular septal defects (n = 231), an association with maternal BMI ≥ 30 kg/m2 was seen, OR 1.67 (95% CI 1.13-2.44). 109 654 women were identified with their first and second pregnancies in the cohort. Interpregnancy BMI change was associated with the risk of CHDs in the second pregnancy (BMI 2 to < 4 kg/m2: aOR 1.29, 95% CI 1.09-1.53; BMI ≥ 4 kg/m2: aOR 1.36, 95% CI 1.08-1.68). The risk of foetal CHDs became gradually higher with higher maternal BMI and interpregnancy weight increases above 2 BMI units were also associated with a higher risk of CHDs.

Tumour lysis syndrome in a neonate with transient abnormal myelopoiesis.

Tumor lysis syndrome (TLS) is an oncological emergency associated with hematological malignancies or highly proliferative solid tumors, commonly after chemotherapy. It is rarely associated with transient abnormal myelopoiesis. We report a rare case of a neonate with transient abnormal myelopoiesis and tumor lysis syndrome, complicated with concomitant heart failure due to an underlying atrioventricular septal defect. Hyperhydration was contraindicated due to heart failure. The patient was managed conservatively with full recovery. Tumor lysis syndrome should be suspected in neonates with transient abnormal myelopoiesis with electrolyte abnormalities. Treatment options should be considered carefully for their risks and benefits.

Predictors of post-operative left atrioventricular valve regurgitation in pediatric patients with complete atrioventricular canal defects.

In infants with complete atrioventricular canal (CAVC) defects, post-operative left atrioventricular valve regurgitation (LAVVR) is a known major cause of morbidity and mortality and a common indication for re-operation. However, there is scarce data to identify risk factors for poor outcomes. Our study aims to find echocardiographic characteristics that predict post-operative LAVVR at discharge and 1-year follow-up. Retrospective cohort study of patients with initial CAVC repair at our hospital who were followed for 1 year between 2013 and 2022. Patients with major co-morbid conditions were excluded. Serial echocardiograms were reviewed. Anatomic details, quantitative and qualitative measure of LAVVR including the number of regurgitant jets, regurgitant jet length and vena contracta width, and ventricular function were collected. The time points measured include pre-operative transthoracic echocardiogram (TTE), post-operative transesophageal echocardiogram (PO-TEE), routine protocol based post-operative day 1 (POD1) TTE, discharge TTE and 1-year post-operative (1yPO) TTE. Paired t-tests, chi-square analysis, and linear regression analysis were performed comparing measured variables to LAVVR outcomes. Fifty-two patients were included; 92% had Trisomy 21. The majority were classified as Rastelli A (71%), others Rastelli C (29%). Only two patients had moderate or greater LAVVR pre-operatively. The mean age at repair was 125 ± 44 days. Pre-operative LAVVR was the only significant predictor of LAVVR severity at 1 year after backward stepwise regression. Of those with<moderate LAVVR on PO-TEE, 20% had worsening to≥moderate at discharge, but only 9% remained that way at 1 year. Of those with≥moderate LAVVR on PO-TEE, 40% improved to<moderate by 1 year. Two patients who worsened at 1 year, both secondary to likely cleft suture dehiscence. Only one patient required reoperation in the immediate post-operative period secondary to severe LAVVR due to suture dehiscence. Routine protocol-based POD1 echo did not have any association with altered outcomes. Pre-operative LAVVR was the only significant predictor of LAVVR severity at 1 year. A significant percentage (40%) of patient with≥moderate LAVVR on PO-TEE improved to<moderate by 1 year. Furthermore, routine protocol-based POD1 echo did not have any association with altered outcomes.

Fetal left and right ventricular strain parameters using speckle tracking in congenital heart diseases.

Assessment of fetal ventricular function is mostly subjective, and currently, for the objective assessment left ventricular shortening fraction is obtained. However, this by itself is not very reliable. Hence, more tools that can provide an objective assessment are needed to increase the confidence of functional assessment. Speckle tracking imaging can provide one such tool. In this study we sought to establish the normative value of global longitudinal and circumferential strain for our fetal patients and for two major forms of congenital heart diseases, namely atrioventricular canal defects (AVC) and uncorrected dextro-transposition of the great arteries (dTGA) to act as a benchmark. The study was completed via a single center retrospective analysis on 72 fetal echocardiograms (26 normal, 15 dTGA, and 31 AVC). Tomtec Arena™ echocardiography analysis software was used for analysis. In normal fetuses, mean left ventricular (LV) global longitudinal strain (GLS) was - 22.6% (95% CI -24, -21.1) and mean right ventricular (RV) GLS was - 22.1% (95% CI -23.6, -20.6). In AVC patients LV GLS was-26.6% (95% CI -28,-25.3) and mean RV GLS was - 26.5% (95% CI -27.9,-25.2). In dTGA patients LV GLS was - 22.9% (95% CI of -24.8, -21) and RV GLS was - 21.3% (95% CI was - 23.4, -20.8). There was good intra-rater reliability though poor to fair inter-rater reliability. Notwithstanding its current limitations, strain imaging can provide useful information that can increase confidence of cardiac functional assessment in fetal patients. However, to be reliable across the board, further automation and standardization is required.

Management of Left Ventricular Intramural Hematoma- an Unusual Complication of Complete Atrioventricular Septal Defect Repair in a Child.

Postoperative survival for complete atrioventricular septal defect (cAVSD) is excellent. Common complications of surgery include valvular stenosis/regurgitation, left ventricular outflow tract obstruction, arrythmias, and residual defects. We report a challenging case of a 7-month old girl with Trisomy 21, preoperative obstructive sleep apnea with severe pulmonary hypertension, who underwent AVSD repair and required veno-arterial extracorporeal membrane oxygenation (V-A ECMO) while unable to come off cardiopulmonary bypass and developed left ventricular intramural hematoma during the course. This case highlights the challenges in management of an unusual complication.

Cardiac Complications in Trisomy 21 Patients in a Secondary Hospital: A Descriptive Study.

This retrospective study addresses the intersection of Down syndrome (DS) and congenital heart defects (CHD), including the prevalence and characteristics of CHD in trisomy 21 patients at a secondary hospital in the Eastern Province of Saudi Arabia. The study investigated the electronic medical records retrieved from the Qatif Central Hospital database, specifically targeting individuals diagnosed with DS (identified by the International Classification of Diseases, Tenth Revision (ICD-10) code Q90.9) between March 2012 and March 2022. The primary aim was to detect cardiac anomalies diagnosed via echocardiography performed at the hospital, along with subsequent follow-up assessments and documented patient outcomes. Among the 161 patients reviewed, the study revealed a significant prevalence of diagnosed heart defects through echocardiograms, constituting approximately 72.7%. Notably, patent ductus arteriosus was the most common condition, found in 29.81% of cases, followed by atrial septal defect (27.95%) and atrioventricular septal defect (17.39%). Among the study participants, 22.98% required surgical intervention. Unfortunately, mortality impacted 32.3% of individuals, while the majority (60.87%) remained alive. In addition, a small percentage (6.83%) discontinued follow-up within our center. This study contributes significant data on cardiac anomalies in DS patients in Saudi Arabia, highlighting a high prevalence of CHD with specific patterns of anomalies. The need for early diagnosis, timely surgical intervention, and ongoing management is evident. These findings provide a foundation for improving clinical practices and shaping public health policies tailored to the needs of this population in Saudi Arabia and similar regions.

Revisiting Atrioventricular Septal Defects: Exploring Chromosomal Abnormalities, Cardiac and Extracardiac Anomalies in a Contemporary Prenatal Cohort.

To estimate if there is an association between partial AVSD with chromosomal abnormalities, cardiac and extracardiac malformations, and to report the outcomes of prenatally diagnosed AVSD in a large, contemporary cohort. This is a retrospective cohort study of 190 prenatally diagnosed fetal AVSD between 2014 and 2023. Type of AVSD (complete vs partial), additional cardiac findings, extracardiac findings, presence of a heterotaxy, results of prenatal karyotype, and pregnancy outcomes were documented and analyzed. A total of 190 cases of fetal AVSD were analyzed. Complete AVSDs comprised 141 (74.2%) of the cohort, while partial AVSDs comprised 49 (25.7%). Karyotype was completed in 131 cases, and in 98 (74.8%) cases chromosomal abnormalities were identified, with trisomy 21 being the most common (53/131, 40.5%). Complete AVSDs were associated with trisomy 21 (45.5%, p = 0.04), Isolated cases of complete AVSDs (p = 0.03). Partial AVSDs were associated with trisomy 18 (53.1%, p < 0.001). In cases of partial AVSDs with aneuploidies, 7 (70%) had an ostium primum defect and 20 (90.9%) of AV canal type VSD. Isolated partial AVSD had no clear association with aneuploidies. There were additional cardiac anomalies in 96 (50.5%) and extracardiac anomalies in 134 (70.5%) of the cohort. There were no differences between partial and complete AVSD in rate of additional cardiac and extracardiac anomalies. AVSD was part of a heterotaxy in 47 (24.7%) of cases, and heterotaxy was associated with complete AVSD in the majority of cases (43/47, 91.4%, p = 0.003). Fetal partial AVSDs are associated with trisomy 18. Fetal complete AVSDs, even isolated, are associated with trisomy 21. There were no differences in association of other aneuploidies, additional cardiac findings, or extracardiac anomalies between prenatally diagnosed complete AVSDs and partial AVSDs.

Cornelia De Lange Syndrome with left heart hypoplasia: a case study

Cornelia de Lange syndrome (CdLS) is characterized by slow growth that can lead to short stature. Despite mutations in the NIPBL, RAD21 or SMC3 genes, CdLS is thought to be inherited in an autosomal dominant manner. Findings include intellectual disability and bone abnormalities in the upper extremities and distinct facial features. It has similar characteristics to autism spectrum disorder, which is a developmental condition that affects communication and social interaction. The physical and clinical findings of a one-and-a-half-year-old girl patient diagnosed with CdLS were reported. In addition to NIPBL gene mutation, atrioventricular septal defect (AVSD), an overriding aorta, and a hypoplastic left heart (HLH) were observed in our case. This study revealed the patient's physical and clinical findings consistent with the diagnosis of CdLS. Additionally emphasized HLH. The importance of performing corrective surgery immediately following the evaluation of congenital heart diseases in CdLS patients can be emphasized.

Repair of the complete atrioventricular septal defect-impact of postoperative moderate or more regurgitation.

To study the risk factors for mortality, moderate or more left atrioventricular valve regurgitation (LAVVR) and reoperation after the surgical repair of complete atrioventricular septal defect (cAVSD) in a single centre. The current study is a retrospective review of patients who underwent surgical repair of cAVSD between 2000 and 2021. Patients with unbalanced ventricles not amenable to biventricular repair, double outlet right ventricle and malpositioned great arteries were excluded. The clinical predictors of outcome for end points were analysed with univariate and multivariable Cox regression analysis or Fine-Gray modelling for competing risks. Time-dependent end points were estimated using the Kaplan-Meier curve analysis and cumulative incidence curves. The median follow-up time was 2.3 years. Among 220 consecutive patients were 10 (4.6%) operative and 21 late mortalities (9.6%). A total of 26 patients were identified to have immediate postoperative moderate or more regurgitation and 10 of them ultimately died. By multivariable analysis prematurity and having more than moderate regurgitation immediately after the operation were identified as predictors of overall mortality (P = 0.003, P = 0.012). Five- and ten-year survival rates were lower for patients with immediate postoperative moderate or more LAVVR {51.9% [confidence interval (CI): 27.5-71.7%]} when compared to patients without moderate or more regurgitation [93.2% (CI: 87.1-96.4%) and 91.3% (CI: 83.6-95.5%)]. The patients who undergo cAVSD repair remain subjected to a heavy burden of disease related to postoperative residual LAVVR. Immediate postoperative moderate or more LAVVR contributes significantly to overall mortality. Whether a second run of bypass can decrease this observed mortality should be investigated.

3D Echocardiogram Visualization: A New Method Based on "Focus + Context".

3D echocardiography (3DE) is the standard modality for visualizing heart valves and their surrounding anatomical structures. Commercial cardiovascular ultrasound systems commonly offer a set of parameters that allow clinical users to modify, in real time, visual aspects of the information contained in the echocardiogram. To our knowledge, there is currently no work that demonstrates if the methods currently used by commercial platforms are optimal. In addition, current platforms have limitations in adjusting the visibility of anatomical structures, such as reducing information that obstructs anatomical structures without removing essential clinical information. To overcome this, the present work proposes a new method for 3DE visualization based on "focus + context" (F+C), a concept which aims to present a detailed region of interest while preserving a less detailed overview of the surrounding context. The new method is intended to allow clinical users to modify parameter values differently within a certain region of interest, independently from the adjustment of contextual information. To validate this new method, a user study was conducted amongst clinical experts. As part of the user study, clinical experts adjusted parameters for five echocardiograms of patients with complete atrioventricular canal defect (CAVC) using both the method conventionally used by commercial platforms and the proposed method based on F+C. The results showed relevance for the F+C-based method to visualize 3DE of CAVC patients, where users chose significantly different parameter values with the F+C-based method.

Current follow-up results of Cyanotic Congenital Heart Diseases detected during Pregnancy in a specific Region

Background/Aims: Congenital heart disease (CHD) is the main cause of death in infants among congenital anomalies. Fetal echocardiography is important for the diagnosis and treatment plan of congenital heart diseases in the prenatal period. This study aimed to retrospectively screen the follow-up and treatment results of cyanotic CHD patients detected on fetal echocardiography. Methods: Fetal echocardiography results were scanned from the hospital record system. Data of fetuses with major cardiac anomalies and cyanotic CHD were examined retrospectively. Results: Fetal echocardiography was performed on 420 pregnant women between July 2020 and April 2023. Major cardiac anomalies and cyanotic heart disease were detected in the fetuses of 40 pregnant women (9.5%) out of 420. The median age of the pregnant women was 29 (19-41 years). The median gestational age at check-up was 23 weeks (22-28 weeks). 9/40 pregnant women (22.5%) had risk factors. The most common cyanotic congenital heart diseases were hypoplastic left heart syndrome (HLHS) and unbalanced complete atrioventricular septal defects (AVSDs) with obstructive lesions of the right or left ventricle. Three fetuses (7.5%) with heart failure findings died intrauterine. Two fetuses with HLHS and critical aortic stenosis (AS) died before being operated on. A patient with complete AVSD, hypoplasia of the left heart chambers, AS, and severe aortic coarctation died due to sepsis during the post-operative follow-up period. Chromosome analysis was performed in 8 patients. Down syndrome was detected in 3 of the patients with complete AVSD. 22q11 deletion and DiGeorge Syndrome were detected in 2 patients with tetralogy of Fallot. Conclusions: Congenital heart diseases and rhythm problems can be safely detected with fetal echocardiography. It is beneficial to perform a fetal echo scan at the appropriate gestational week, especially in fetuses with risk factors and in whom the four chambers view cannot be seen.

Cleft closure and other predictors of contemporary outcomes after atrioventricular canal repair in patients with parachute left atrioventricular valve.

Parachute left atrioventricular valve (LAVV) complicates atrioventricular septal defect (AVSD) repair. We evaluate outcomes of AVSD patients with parachute LAVV and identify risk factors for adverse outcomes. We evaluated all patients undergoing repair of AVSD with parachute LAVV from 2012 to 2021. The primary outcome was a composite of time-to-death, LAVV reintervention and development of greater than or equal to moderate LAVV dysfunction (greater than or equal to moderate LAVV stenosis and/or LAVV regurgitation). Event-free survival for the composite outcome was estimated using Kaplan-Meier methodology and competing risks analysis. Cox proportional hazards regression was used to identify predictors of the primary outcome. A total of 36 patients were included with a median age at repair of 4 months (interquartile range 2.3-5.5 months). Over a median follow-up of 2.6 years (interquartile range 1.0-5.6 years), 6 (17%) patients underwent LAVV reintervention. All 6 patients who underwent LAVV reintervention had right-dominant AVSD. Sixteen patients (44%) met the composite outcome, and all did so within 2 years of initial repair. Transitional AVSD (versus complete), prior single-ventricle palliation, leaving the cleft completely open and greater than or equal to moderate preoperative LAVV regurgitation were associated with a higher risk of LAVV reintervention in univariate analysis. In multivariate analysis, leaving the cleft completely open was associated with the composite outcome. Repair of AVSD with parachute LAVV remains a challenge with a significant burden of LAVV reintervention and dysfunction in medium-term follow-up. Unbalanced, right-dominant AVSDs are at higher risk for LAVV reintervention. Leaving the cleft completely open might independently predict poor overall outcomes and should be avoided when possible. IRB-P00041642.

Genomic testing and molecular diagnosis among infants with congenital heart disease in the neonatal intensive care unit.

To evaluate patterns of genetic testing among infants with CHD at a tertiary care center. We conducted a retrospective observational cohort study of infants in the NICU with suspicion of a genetic disorder. 1075 of 7112 infants admitted to BCH had genetic evaluation including 329 with CHD and 746 without CHD. 284 of 525 infants with CHD admitted to CMHH had genetic evaluation. Patterns of testing and diagnoses were compared. The rate of diagnosis after testing was similar for infants with or without CHD (38% [121/318] vs. 36% [246/676], p = 0.14). In a multiple logistic regression, atrioventricular septal defects were most high associated with genetic diagnosis (odds ratio 29.99, 95% confidence interval 2.69-334.12, p < 0.001). Infants with suspicion of a genetic disorder with CHD had similar rates of molecular diagnosis as those without CHD. These results support a role for genetic testing among NICU infants with CHD.

Risk of infective endocarditis after hybrid melody mitral valve replacement in infants: the French experience.

Surgical management of mitral valve disease is challenging in infants <1 year old. We aimed at reviewing the French experience with Melody mitral valve replacement in critically ill infants. A retrospective cohort study reporting the French experience with Melody mitral valve replacement. Seven symptomatic infants [complete atrioventricular septal defect (n = 4, Down syndrome: n = 3), hammock valve (n = 3)] underwent Melody mitral valve replacement [age: 3 months (28 days to 8 months), weight: 4.3 kg (3.2-6.4 kg)] because of severe mitral valve regurgitation (6) or mixed valve disease (1) and 14 mm (11-16 mm) mitral valve annulus. In 2 patients whose valve was felt irreparable, Melody mitral valve replacement was performed straightaway. The others underwent 2 (1-3) previous attempts of valve repair; 3 were on extracorporeal membrane oxygenation. Melody mitral valve replacement led to competent valve and low gradient [3 mmHg, (1-4 mmHg)]. One patient died 3 days post-implant from extracorporeal membrane oxygenation-related stroke. Of the 6 discharged home patients, 3 (50%) were readmitted for a definite diagnosis (1) or high suspicion (2) of infective endocarditis, of which 2 died. Over the follow-up, 1 underwent balloon expansions of the valve at 9- and 16-months post-implant, and mechanical mitral valve replacement at 2 years; another is currently planned for transcatheter Melody valve dilation. Melody mitral valve replacement may be considered in selected infants with small mitral valve annulus as an alternative to mechanical mitral valve replacement. Our experience highlights a high-risk of late infective endocarditis that deserves further consideration.

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.

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. 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). 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. In our study, congenital heart lesions are the most common diagnosis and cardiac murmurs are the most common presenting reasons for echocardiography evaluation.