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Background Congenital heart defects (CHD) refer to a wide range of heart structural abnormalities that exist at birth, ranging from malformations with a good prognosis to more complicated and severe lesions. Congenital heart defects can result from mutations in genes encoding cell signaling transducers such as Jagged-1 ( JAG1 ). Mutations in JAG1 are linked to rare autosomal-dominant disorders, often resulting from haploinsufficiency in the Notch signaling pathway, which affects organ development. Reporting novel mutations and associated phenotypes emphasizes the importance of tailored approaches based on individual phenotypic and genotypic profiles. Next-generation sequencing techniques facilitate the detection of disease-associated mutations, enabling the development of personalized management strategies. Case presentation Here, we present a case of a Saudi Arabian female child who was born extremely preterm. She required intubation and mechanical ventilation immediately after birth. She developed bronchopulmonary dysplasia and pulmonary hypertension. At 8 months old, her echocardiogram revealed a large atrial septal defect and a patent ductus arteriosus. She underwent successful patent ductus arteriosus closure. She exhibited severe failure to thrive and was frequently admitted for respiratory infections. Tragically, she passed away at 11 years of age due to pneumonia and pulmonary hypertensive crises. Exome sequencing of the proband, her parents, and her brother identified a previously undescribed likely pathogenic heterozygous missense variant (c.1127A>G) in the JAG1 gene, inherited from her presumed healthy mother, that is associated with an isolated cardiac phenotype. Conclusion Although JAG1 mutations typically manifest as Alagille syndrome, this case underscores their phenotypic variability, specifically presenting as an isolated congenital heart defect. The clinical course demonstrates that pulmonary hypertension is a severe complication of an atrial septal defect (ASD), where persistent left-to-right shunting triggers irreversible vascular remodeling and terminal right heart failure. Ultimately, this report confirms the incomplete penetrance characteristic of JAG1 variants and suggests that extreme prematurity may function as a significant epigenetic or environmental modifier.

Even though cardiac computed tomography and magnetic resonance imaging are the gold standard for evaluating the aortic arch in the context of vascular rings in children, echocardiography is usually the first-line modality. The echocardiographic evaluation of the aortic arch in the context of vascular rings in children has received little attention. This article details the step-by-step echocardiographic assessment of the aortic arch in vascular ring patients.

To assess potential risk factors and their effect on the development of transposition of the great arteries (TGA). Methods: A retrospective case-control study of all patients diagnosed with TGA between 1999 to 2016 at King Abdulaziz Medical City, Riyadh, Saudi Arabia. Age and gender-matched controls were selected. Risk factors, including consanguinity, gestational diabetes, family history of congenital heart disease, parental age, and maternal parity, were collected. Regression modeling was used to analyze the effects of risk factors on the development of TGA. Results: A total of 206 patients with transposition of the great arteries were enrolled in the study. Transposition of the great arteries  cases were divided into simple and complex TGA. Selected healthy controls were 446. In the studied cases, consanguinity was found in 95 (46%) of cases, gestational diabetes was diagnosed in 36 (17.5%) mothers, and 35 (17%) had a confirmed family history of congenital heart disease. When risk factors of the cases were compared to the controls, consanguinity, gestational diabetes, maternal age, and parity were found to significantly increase the incidence of TGA. Conclusion: Our study revealed significant risk factors for the development of transposition of great arteries including first degree consanguineous marriages, gestational diabetes, family history of congenital cardiac anomalies, and increasing maternal age and parity. These factors increased the risk by at least 2 folds.

To compare the outcomes in patients with congenitally corrected transposition of the great arteries (ccTGA) who were offered different surgical management strategies. We retrospectively included all patients from our center diagnosed with ccTGA between 2000 and 2021. The cohort was divided into four groups: (1) patients with systemic right ventricle; (2) patients with anatomic repair (in the form of an atrial and arterial switch or an atrial switch and Rastelli operation); (3) patients with a one-and-a-half ventricle repair (hemi-Mustard type) and bidirectional cavopulmonary connection and placement of a right ventricle to pulmonary artery conduit; and (4) patients with a single ventricle who were not suitable for biventricular repair. The study included 42 patients with ccTGA. In 39 patients (93%), ccTGA was associated with other congenital heart defects. Group 1 (systemic right ventricle) comprised 16 patients (38%); seven of them underwent pulmonary artery banding, with a reduction in tricuspid valve regurgitation seen in four patients. Group 2 (anatomic group) and Group 3 (one-and-a-half ventricle group) each had three patients (7%). Group 4 (single-ventricle palliation) consisted of 17 patients (40%); 15 of them (88%) completed total cavopulmonary connection. Three early mortalities (7%) were recorded. Patients who underwent anatomical repair (Rastelli-type) or a one-and-a-half ventricle repair (hemi-Mustard type) showed a good outcome with satisfactory biventricular function. Moreover, single-ventricle palliation showed excellent mid-term results in patients with ccTGA. PA banding may reduce tricuspid regurgitation in patients with ccTGA. A follow-up of our managed patients by an individualized plan demonstrated satisfactory outcomes.

Background: Congenital heart diseases (CHD) are the most common congenital malformations in newborns and remain the leading cause of mortality among infants under one year old. Molecular diagnosis is crucial to evaluate the recurrence risk and to address future prenatal diagnosis. Here, we describe two families with various forms of inherited non-syndromic CHD and the genetic work-up and resultant findings. Methods: Next-generation sequencing (NGS) was employed in both families to uncover the genetic cause. In addition, we performed functional analysis to investigate the consequences of the identified variants in vitro. Results: NGS identified possible causative variants in both families in the protein kinase domain of the TGFBR1 gene. These variants occurred on the same amino acid, but resulted in differently substituted amino acids (p.R398C/p.R398H). Both variants co-segregate with the disease, are extremely rare or unique, and occur in an evolutionary highly conserved domain of the protein. Furthermore, both variants demonstrated a significantly altered TGFBR1-smad signaling activity. Clinical investigation revealed that none of the carriers had (signs of) aortopathy. Conclusion: In conclusion, we describe two families, with various forms of inherited non-syndromic CHD without aortopathies, associated with unique/rare variants in TGFBR1 that display altered TGF-beta signaling. These findings highlight involvement of TGFBR1 in CHD, and warrant consideration of potential causative TGFBR1 variants also in CHD patients without aortopathies.

Background Diastolic dysfunction of the right ventricle (RV) is common after repair of tetralogy of Fallot. While restrictive physiology in late diastole has been well known, dysfunction in early diastole has not been described. The present study sought to assess the prevalence and mechanism of early diastolic dysfunction of the RV defined as delayed onset of the tricuspid valve (TV) flow after TOF repair. Methods The study population consisted of 31 children with repaired TOF (mean age ± SD, 12.3 ± 4.1 years) who underwent postoperative cardiovascular magnetic resonance (CMR). The CMR protocol included simultaneous phase-contrast velocity mapping of the atrioventricular valves, which enabled direct comparison of the timing and patterns of tricuspid (TV) and mitral (MV) valve flow. The TV flow was defined to have delayed onset when its onset was > 20 ms later than the onset of the MV flow. The TV and MV flow from 14 normal children was used for comparison. The CMR results were correlated with the findings on echocardiography and electrocardiography. Result Delayed onset of the TV flow was observed in 16/31 patients and in none of the controls. The mean delay time was 64.81 ± 27.07 ms (8.7 ± 3.2% of R-R interval). The delay time correlated with the differences in duration of the TV and MV flow (55.94 ± 32.88 ms) (r = 0.90, p < 0.001). Delayed onset was associated with prolongation of the RV ejection time in 9 and delayed onset and cessation of the pulmonary arterial flow in 4. Delayed onset was not associated with timing changes in the pulmonary artery in 3. The patients with delayed onset showed reduced RV ejection fraction (p = 0.01). However, the two groups did not show significant differences in TV E/A ratio, ventricular end-diastolic volumes, left ventricular ejection fraction, pulmonary regurgitant fraction, heart rate, PR interval and QRS duration. Conclusions Early diastolic dysfunction with delayed onset of TV flow is common after TOF repair, and is associated with reduced RV ejection fraction. It is a further manifestation of interventricular dyssynchrony and represent an additional mechanism of ventricular diastolic dysfunction.

Yasui procedure is surgical repair intended to preserve biventricular function for patients with left ventricle outflow tract obstruction associated with aortic arch lesions and ventricular septal defect.BACKGROUNDYasui procedure is surgical repair intended to preserve biventricular function for patients with left ventricle outflow tract obstruction associated with aortic arch lesions and ventricular septal defect.Retrospective chart review analysis of all patients who had Yasui procedure (2008-2020) comparing midterm outcome of one versus two stage repair.METHODSRetrospective chart review analysis of all patients who had Yasui procedure (2008-2020) comparing midterm outcome of one versus two stage repair.Twenty patients (70% female) underwent Yasui procedure in our center. Eight patients (40%) had left ventricle outflow tract obstruction /interrupted aortic arch, 7 patients (35%) had left ventricle outflow tract obstruction /coarctation of aorta, 3 patients (15%) had double outlet ventricle and ventricular septal defect that were unattainable for tunneling to one of the semilunar valves without creating obstruction, and 2 patients (10%) had aortic atresia with hypoplastic aortic arch. All patients had associated ventricular septal defect. Fifteen patients (75%) had one-stage repair and 5 patients (25%) had two-stage repair. Means age and weight for one and two-stage repair were 1.3 ± 2 months, 13.4 ± 11.5 months and 3.3 ± 0.6 kg, 7.8 ± 3.4 kg, respectively. During follow up, 8 patients (40%) required re- intervention, mainly for right ventricle-pulmonary artery conduit either dilation or replacement. The average duration of follow up was 5 years with nil mortality.RESULTSTwenty patients (70% female) underwent Yasui procedure in our center. Eight patients (40%) had left ventricle outflow tract obstruction /interrupted aortic arch, 7 patients (35%) had left ventricle outflow tract obstruction /coarctation of aorta, 3 patients (15%) had double outlet ventricle and ventricular septal defect that were unattainable for tunneling to one of the semilunar valves without creating obstruction, and 2 patients (10%) had aortic atresia with hypoplastic aortic arch. All patients had associated ventricular septal defect. Fifteen patients (75%) had one-stage repair and 5 patients (25%) had two-stage repair. Means age and weight for one and two-stage repair were 1.3 ± 2 months, 13.4 ± 11.5 months and 3.3 ± 0.6 kg, 7.8 ± 3.4 kg, respectively. During follow up, 8 patients (40%) required re- intervention, mainly for right ventricle-pulmonary artery conduit either dilation or replacement. The average duration of follow up was 5 years with nil mortality.Yasui procedure is effective approach for children who have left ventricle outflow tract obstruction associated with aortic arch anomalies and ventricular septal defect. Survival rate with single or staged repair is comparably good. During the first 5 year of follow up, nearly 40% of operated patients required re-intervention.CONCLUSIONYasui procedure is effective approach for children who have left ventricle outflow tract obstruction associated with aortic arch anomalies and ventricular septal defect. Survival rate with single or staged repair is comparably good. During the first 5 year of follow up, nearly 40% of operated patients required re-intervention.

Ventricular septal defect and aortic arch obstruction are usually associated with a narrow left ventricular outflow tract. The aim of the present study was to analyse the growth and predictors of future obstruction of the left ventricular outflow tract after surgical repair.

Aorto-left ventricular tunnel is a rare disease that can cause significant morbidity early in life due to volume overload and left ventricular failure. Surgical intervention is usually curative with minimal early complications. However, long-term effects and outcome are not fully determined. We are reporting a case series of this rare CHD with its long-term outcome. We conducted a retrospective analysis of all children from birth to 14 years of age who were admitted between 2001 and 2020 with the diagnosis of aorto-left ventricular tunnel. Demographic, echocardiographic, and perioperative data were collected and reviewed. The pre-operative data were compared with data reviewed on the last outpatient follow-up. Total of five patients fulfilled our inclusion criteria. Three patients were diagnosed after auscultating an incidental murmur, one had symptoms of congestive heart failure, and one had an abnormal fetal echocardiogram. Echocardiography demonstrated stenotic and regurgitant aortic valve with severely depressed left ventricle function in two patients, one of them with also single left coronary artery. The other three patients had normal aortic valve structure and normal ventricular function. All five patients had surgical repair, two by patch closure at aortic end of aorto-left ventricular tunnel, two by patch closure at both aortic and left ventricular ends, and one by aortic root replacement using a homograft. During follow-up, there was no residual aorto-left ventricular tunnel in any of our five cases, two had moderate aortic regurgitation and one had moderate residual aortic stenosis. Spectrum of presentation for aorto-left ventricular tunnel varies from an occult lesion to frank left heart failure due to volume or less commonly, pressure overload. Early surgical repair is recommended and is usually associated with complete resolution. Long-term follow-up is recommended for aortic root dilatation and aortic valve competency, as valve function need to be addressed in a timely manner to avoid further complications.