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Background: A peculiar subgroup of patients with partial or complete atrioventricular canal defect exhibits a spectrum of left‐sided obstructions including right ventricular dominance and aortic coarctation. The association of atrioventricular canal defect with left‐sided obstructions is found in several genetic syndromes; however, the molecular basis of nonsyndromic atrioventricular canal defect with aortic coarctation is still poorly understood. Although some candidate genes for nonsyndromic atrioventricular canal defect are known, a complex oligogenic inheritance determined in some cases by the co‐occurrence of multiple variants has also been hypothesized. Case Report: We describe a nonsyndromic infant with mesocardia with viscero‐atrial situs solitus, partial atrioventricular canal defect, mild right ventricular dominance, and coarctation of the aorta. Next generation sequencing genetic testing revealed variants in two genes, GDF1 and NOTCH1, previously reported in association with atrioventricular canal defect and left‐sided obstructive lesions, respectively. Conclusion: The present report could support the hypothesis that the co‐occurrence of cumulative variants may be considered as genetic predisposing risk factor for specific congenital heart defects. [ABSTRACT FROM AUTHOR]

UNLABELLED: Adult congenital heart disease patients may undergo numerous fluoroscopically guided procedures including pacemaker implantation during their lifetime. One alternative to traditional pacemaker setup which may improve long-term pacing outcomes is His bundle pacing. Given the altered His-bundle location, and given increased radiation exposure over a lifetime, we used 3-dimensional mapping to locate the His and to minimize fluoroscopy for placement of a His-bundle pacemaker system in a 31-year old patient with atrioventricular canal defect and complete heart block with 100% RV pacing and epicardial lead fracture. METHODS: An Octapolar Livewire catheter (Abbott, Minneapolis, USA) was used for mapping and location of the His bundle from a right femoral venous access on the EnSite Precision system 3-dimensional mapping system (Abbott Medical, Abbott Park, IL). The same map was used to guide 3830 lead placement into the posterior-inferior His-bundle position. RESULTS: Successful placement of a His-bundle pacing system with thresholds of 1Volt@0.4ms for both the atrial and ventricular leads with selective His-bundle pacing noted. Ten-month follow-up demonstrated His-bundle capture at 0.75V@0.4ms with stable impedance, sensing and with 100% right ventricular pacing a projected longevity of 12 years total. CONCLUSIONS: Successful placement of selective His-bundle pacing can be achieved in an adult patient with atrioventricular canal defect using 3-dimensional mapping.

Atrioventricular canal defects (AVCD) is a spectrum of congenital heart defects (CHD) raging from large isolated ventricular septal defect or atrial septal defect, endocardial cushions anomalies to complete atrioventricular septal defect. The Rastelli classification further categorizes AVCD into 3 types, depending on the morphology of atrioventricular valvular apparatus. Usually, they arise in the setting of chromosomal aneuploydies such as Trisomy 21, chromosomal deletion syndromes, ciliopahties, RASopathies, or monogenic disorders affecting EVC, EVC2, WDR35, DYNC2LI1, and DYNC2H1 genes. Material and methods: This paper discusses recent advances in multidisciplinary diagnosis and treatment in cases with AVCD. Pubmed and ScienceDirect have been used as scientific databases and atrivoentricular canal, gene editing, machine learning, medical mangement, surgical repairment were the main research keywords. Results: Classically, AVCD management is a 3 step process. Firstly, medical management aims at improving myocardial function by acting both on the ventricular preload and postload using diuretics and Angiotensin-converting enzyme inhibitors, and enhancing myocardial contractility. Staged surgical management should be undertaken between 3-6 months of age and it involves primary defect repair or palliative interventions, depending on the severity of the cardiac defect. Recent therapeutic strategies are based on the CRISPR- Casp9 gene editing technologies. Promising results have been obtained in animal models of RASopathies and ongoing research is focused on extending its application in monogenic mutations implicated in AVCD etiology. Machine learning techniques have been deployed in order to achieve early CHD diagnostic, evaluate recurrence risk, establish long-term prognosis and tailored medical management.

Infective endocarditis (IE) is common in patients with corrected congenital heart disease (CHD) with a residual lesion, but is rarely found on surgical patches used to close atrial septal defects (ASDs). This is also reflected in the current guidelines that do not recommend antibiotic therapy for patients with a repaired ASD with no residual shunt six months after closure (percutaneous or surgical). However, the situation could be different in the case of mitral valve endocarditis, which causes leaflet disruption with severe mitral insufficiency and could seed the surgical patch. We present herein a 40-year-old male patient with a past medical history of a complete surgically corrected atrioventricular canal defect performed in childhood who presented with fever, dyspnea and severe abdominal pain. Transthoracic and transesophageal echocardiography (TTE and TEE) revealed vegetation at the level of the mitral valve and the interatrial septum. The CT scan confirmed ASD patch endocarditis and multiple septic emboli, guiding the therapeutic management. An accurate evaluation of cardiac structures should be mandatory when a systemic infection is detected in CHD patients, even if the defects were surgically corrected, because the detection and eradication of such infectious foci as well as a surgical reintervention are particularly difficult to achieve in this subpopulation. [ABSTRACT FROM AUTHOR]

Abstract Background Complete atrioventricular canal is a congenital heart defect that is characterized by an atrial septal defect, ventricular septal defect, and a common atrioventricular valve. Standard surgical techniques for repairing complete atrioventricular canal defect mainly includes repairing the defect with a single patch, a double patch, or with the modified single patch technique. Case presentation This paper presents a novel surgical repair technique of an unusual anatomical presentation for a complete atrioventricular canal defect in a patient with Down syndrome. Conclusions Unusual anatomical variant for congenital heart defects occurs frequently, which gives surgeons real opportunities to innovate surgical approaches. This patient was an example of an unusual anatomical presentation for complete atrioventricular canal, and the surgical technique used for this patient was novel. Follow up for these patients is mandatory for long term results.

Atrioventricular canal defects (AVCD) is a spectrum of congenital heart defects (CHD) raging from large isolated ventricular septal defect or atrial septal defect, endocardial cushions anomalies to complete atrioventricular septal defect. The Rastelli classification further categorizes AVCD into 3 types, depending on the morphology of atrioventricular valvular apparatus. Usually, they arise in the setting of chromosomal aneuploydies such as Trisomy 21, chromosomal deletion syndromes, ciliopahties, RASopathies, or monogenic disorders affecting EVC, EVC2, WDR35, DYNC2LU, and DYNC2H1 genes. Material and methods: This paper discusses recent advances in multidisciplinary diagnosis and treatment in cases with AVCD. Pubmed and ScienceDirect have been used as scientific databases and atrivoentricular canal, gene editing, machine learning, medical mangement, surgical repairment were the main research keywords. Results: Classically, AVCD management is a 3 step process. Firstly, medical management aims at improving myocardial function by acting both on the ventricular preload and postload using diuretics and Angiotensin-converting enzyme inhibitors, and enhancing myocardial contractility. Staged surgical management should be undertaken between 3-6 months of age and it involves primary defect repair or palliative interventions, depending on the severity of the cardiac defect. Recent therapeutic strategies are based on the CRÍSPR- Casp9 gene editing technologies. Promising results have been obtained in animal models of RASopathies and ongoing research is focused on extending its application in monogenic mutations implicated in A VCD etiology. Machine learning techniques have been deployed in order to achieve early CHD diagnostic, evaluate recurrence risk, establish long-term prognosis and tailored medical management. [ABSTRACT FROM AUTHOR]

Trifoliate left atrioventricular (AV) valve with common atrioventricular junction is considered part of the spectrum of atrioventricular septal defect. This valve morphology is typically associated with defects in the AV septum resulting in communication at the atrial or ventricular level, but has also been described as an isolated defect in the setting of a common AV junction without AV septal defect. Trifoliate left AV valve exhibits a line of apposition between the bridging leaflets that is directed toward the inlet interventricular septum, distinguishing it from isolated mitral valve cleft in which the orientation of the bridging leaflets are toward the left ventricular outflow tract. The echocardiographic findings of four dogs with trifoliate left AV valve are described; two with intact septal structures and two with large ostium primum defects. Three dogs underwent open surgical repair using different approaches depending on the presence or absence of a septal defect. One of these underwent concurrent surgical repair for right AV valve dysplasia. One dog with intact septal structures underwent interventional closure of a concurrent patent ductus arteriosus. Current terminology associated with trileaflet left AV valve malformations is reviewed. [ABSTRACT FROM AUTHOR]

Adult congenital heart disease patients may undergo numerous fluoroscopically guided procedures including pacemaker implantation during their lifetime. One alternative to traditional pacemaker setup which may improve long-term pacing outcomes is His bundle pacing. Given the altered His-bundle location, and given increased radiation exposure over a lifetime, we used 3-dimensional mapping to locate the His and to minimize fluoroscopy for placement of a His-bundle pacemaker system in a 31-year old patient with atrioventricular canal defect and complete heart block with 100% RV pacing and epicardial lead fracture. Methods: An Octapolar Livewire catheter (Abbott, Minneapolis, USA) was used for mapping and location of the His bundle from a right femoral venous access on the EnSite Precision system 3-dimensional mapping system (Abbott Medical, Abbott Park, IL). The same map was used to guide 3830 lead placement into the posterior-inferior His-bundle position. Results: Successful placement of a His-bundle pacing system with thresholds of 1Volt@0.4ms for both the atrial and ventricular leads with selective His-bundle pacing noted. Ten-month follow-up demonstrated His-bundle capture at 0.75V@0.4ms with stable impedance, sensing and with 100% right ventricular pacing a projected longevity of 12 years total. Conclusions: Successful placement of selective His-bundle pacing can be achieved in an adult patient with atrioventricular canal defect using 3-dimensional mapping.

Abstract Atrioventricular canal defect (AVCD) represents a quite common congenital heart defect (CHD) accounting for 7.4% of all cardiac malformations. AVCD is a very heterogeneous malformation that can occur as a phenotypical cardiac aspect in the context of different genetic syndromes but also as an isolated, non-syndromic cardiac defect. AVCD has also been described in several pedigrees suggesting a pattern of familiar recurrence. Targeted Next Generation Sequencing (NGS) techniques are proved to be a powerful tool to establish the molecular heterogeneity of AVCD. Given the complexity of cardiac embryology, it is not surprising that multiple genes deeply implicated in cardiogenesis have been described mutated in patients with AVCD. This review attempts to examine the recent advances in understanding the molecular basis of this complex CHD in the setting of genetic syndromes or in non-syndromic patients.

Atrioventricular septal defect comprise of 1.4-2.9% of congenital cardiac defect and is most common congenital cardiac defect in Trisomy 21. This anomaly is characterized by a common atrioventricular junction coexisting with atrial and/or ventricular septal defect , cleft of left atrioventriocular valve along with left ventricular outflow tract abnormality. Due to cleft of left atrioventricular valve ,valve regurgitation is almost invariably present leading to early onset of congestive cardiac failure in these patients. Other associated structural heart defects are pulmonary stenosis,ductal arteriosus,aortic arch anomalies,pulmonary and systemic venous anomalies and unbalaned atrioventricular valve connection leading to univentricular physiology. Echocardiography plays very crucial role in defning the anomaly and planning management In this article, I am going to focus on role of echocardiography in atrioventricular septal defect.

Infective endocarditis (IE) is common in patients with corrected congenital heart disease (CHD) with a residual lesion, but is rarely found on surgical patches used to close atrial septal defects (ASDs). This is also reflected in the current guidelines that do not recommend antibiotic therapy for patients with a repaired ASD with no residual shunt six months after closure (percutaneous or surgical). However, the situation could be different in the case of mitral valve endocarditis, which causes leaflet disruption with severe mitral insufficiency and could seed the surgical patch. We present herein a 40-year-old male patient with a past medical history of a complete surgically corrected atrioventricular canal defect performed in childhood who presented with fever, dyspnea and severe abdominal pain. Transthoracic and transesophageal echocardiography (TTE and TEE) revealed vegetation at the level of the mitral valve and the interatrial septum. The CT scan confirmed ASD patch endocarditis and multiple septic emboli, guiding the therapeutic management. An accurate evaluation of cardiac structures should be mandatory when a systemic infection is detected in CHD patients, even if the defects were surgically corrected, because the detection and eradication of such infectious foci as well as a surgical reintervention are particularly difficult to achieve in this subpopulation.

Children with Down syndrome (DS) have lower mortality compared to nonsyndromic (NS) children after atrioventricular septal defect (AVSD) repair. Limited data exist regarding hospital mortality and utilization after other congenital heart disease (CHD) operations in DS. We compared hospital mortality and utilization after CHD operations in both populations and hypothesized that the survival benefit in children with DS is not consistent across CHD lesions. The Texas Inpatient Public Use Datafile was queried for all patients <18 years old undergoing operations for CHD between 1999 and 2016. Hospital mortality, length-of-stay and charges were compared between DS and NS groups, stratified by CHD operation using mixed-effects multivariable analyses and propensity score matching analyses adjusting for prematurity, low birth weight, age, and sex. Over the 18-year period, 2841 cases with DS underwent CHD operations compared to 25,063 NS cases. The most common types of interventions performed in DS were AVSD repair, isolated ventricular septal defect (VSD) repair and tetralogy of Fallot (TOF) repair. By multivariable analyses, DS was associated with lower mortality after isolated AVSD repair (RR 0.40 [IQR 0.20-0.79]), and higher hospital mortality after bidirectional Glenn anastomosis (BDG) (RR 5.17 [IQR 2.10-12.77]) and TOF/pulmonary atresia repair (RR 9.71 [IQR 2.16-43.68]) compared to NS children. Similar results were noted using propensity score matching. Children with DS had lower mortality after AVSD repair than NS children, but higher mortality after operations for BDG and TOF/pulmonary atresia. Further study is needed to determine if the presence of pulmonary hypertension in DS modifies the association between DS and mortality depending on cardiac lesion. [ABSTRACT FROM AUTHOR]

Clinical expression of Ellis‐van Creveld syndrome (EvC) is variable and mild phenotypes have been described, including patients with mostly cardiac and limb involvement. Whether these cases are part of the EvC phenotypic spectrum or separate conditions is disputed. Herein, we describe a family with vertical transmission of atrioventricular canal defect (AVCD), common atrium, and postaxial polydactyly. Targeted sequencing of EVC, EVC2, WDR35, DYNC2LI1, and DYNC2H1 identified different compound heterozygosity in EVC genotypes in the two affected members, consisting of a nonsense (p.Arg622Ter) and a missense (p.Arg663Pro) variant in the father, and the same nonsense variant and a noncanonical splice‐site in‐frame change (c.1316–7A>G) in the daughter. Complementary DNA sequencing, immunoblot, and immunofluorescence experiments using patient‐derived fibroblasts and Evc–/– mouse embryonic fibroblasts showed that p.Arg622Ter is a loss‐of‐function mutation, whereas p.Arg663Pro and the splice‐site change c.1316–7A>G are hypomorphic variants resulting in proteins that retain, in part, the ability to complex with EVC2. Our molecular and functional data demonstrate that at least in some cases the condition characterized as "common atrium/AVCD with postaxial polydactyly" is a mild form of EvC due to hypomorphic EVC mutations, further supporting the occurrence of genotype‐phenotype correlations in this syndrome. [ABSTRACT FROM AUTHOR]

Objective: The objective of this study was to highlight anesthetic and perioperative management and the outcomes of infants with complete atrioventricular (AV) canal defects. Design: This retrospective descriptive study included children who underwent staged and primary biventricular repair for complete AV canal defects from 1999 to 2013. Setting: A single-center study at a university affiliated heart center. Participants: One hundred and fifty-seven patients with a mean age at surgery of 125 ± 56.9 days were included in the study. About 63.6% of them were diagnosed as Down syndrome. Mean body weight at surgery was 5.6 ± 6.3 kg. Methods: Primary and staged biventricular repair of complete AV canal defects. Measurements and main results: A predefined protocol including timing of surgery, management of induction and maintenance of anesthesia, cardiopulmonary bypass, and perioperative intensive care treatment was used throughout the study. Demographic data as well as intraoperative and perioperative Intensive Care Unit (ICU) data, such as length of stay in ICU, total duration of ventilation including reintubations, and total length of stay in hospital and in hospital mortality, were collected from the clinical information system. Pulmonary hypertension was noted in 60% of patients from which 30% needed nitric oxide therapy. Nearly 2.5% of patients needed permanent pacemaker implantation. Thorax was closed secondarily in 7% of patients. In 3.8% of patients, reoperations due to residual defects were undertaken. Duration of hospital stay was 14.5 ± 4.7 days. The in-hospital mortality was 0%. Conclusion: Protocolized perioperative management leads to excellent outcome in AV canal defect repair surgery.

The association of atretic right superior vena cava with persistent left superior vena cava draining directly into left atrium with absent coronary sinus in atrioventricular canal defect is virtually unknown in adults with no case reported so far. Though atretic right superior vena cava with persistent left superior vena cava is an extremely rare venous anomaly seen in congenital heart disease, it has important clinical implications in cardiac surgery and interventional cardiology. Atrial arrhythmias and right bundle branch block are common with advancing age in partial atrioventricualr canal defect but complete heart block has scarcely been reported in the medical literature. [ABSTRACT FROM AUTHOR]

Atrioventricular canal defect (AVCD) represents a quite common congenital heart defect (CHD) accounting for 7.4% of all cardiac malformations. AVCD is a very heterogeneous malformation that can occur as a phenotypical cardiac aspect in the context of different genetic syndromes but also as an isolated, non-syndromic cardiac defect. AVCD has also been described in several pedigrees suggesting a pattern of familiar recurrence. Targeted Next Generation Sequencing (NGS) techniques are proved to be a powerful tool to establish the molecular heterogeneity of AVCD. Given the complexity of cardiac embryology, it is not surprising that multiple genes deeply implicated in cardiogenesis have been described mutated in patients with AVCD. This review attempts to examine the recent advances in understanding the molecular basis of this complex CHD in the setting of genetic syndromes or in non-syndromic patients. [ABSTRACT FROM AUTHOR]

Objective: The objective of this study was to highlight anesthetic and perioperative management and the outcomes of infants with complete atrioventricular (AV) canal defects.Design: This retrospective descriptive study included children who underwent staged and primary biventricular repair for complete AV canal defects from 1999 to 2013.Setting: A single-center study at a university affiliated heart center.Participants: One hundred and fifty-seven patients with a mean age at surgery of 125 ± 56.9 days were included in the study. About 63.6% of them were diagnosed as Down syndrome. Mean body weight at surgery was 5.6 ± 6.3 kg.Methods: Primary and staged biventricular repair of complete AV canal defects.Measurements and Main Results: A predefined protocol including timing of surgery, management of induction and maintenance of anesthesia, cardiopulmonary bypass, and perioperative intensive care treatment was used throughout the study. Demographic data as well as intraoperative and perioperative Intensive Care Unit (ICU) data, such as length of stay in ICU, total duration of ventilation including reintubations, and total length of stay in hospital and in hospital mortality, were collected from the clinical information system. Pulmonary hypertension was noted in 60% of patients from which 30% needed nitric oxide therapy. Nearly 2.5% of patients needed permanent pacemaker implantation. Thorax was closed secondarily in 7% of patients. In 3.8% of patients, reoperations due to residual defects were undertaken. Duration of hospital stay was 14.5 ± 4.7 days. The in-hospital mortality was 0%.Conclusion: Protocolized perioperative management leads to excellent outcome in AV canal defect repair surgery. [ABSTRACT FROM AUTHOR]

Brain abscess is an uncommon but potentially fatal infection of the brain parenchyma that can affect 5 % to 18.7 % of people with uncorrected complex congenital heart defects. In management of patients with complex cardiac defects, the main concern is that they are prone to develop perioperative complications. Hence such cases are a real challenge for surgeons and anesthesiologists. In this study we have reported a well-managed awake craniotomy (Awake-Asleep-Awake) for drainage of cerebral abscess in a patient with complex cardiac defect. We present a case of a 13-year-old male patient with untreated cyanotic CHD-TOF with complete AV canal defect, who complained of right-side paralysis since 2 weeks; and has been suffering from headache, fever and vomiting for 25 days. Brain CT scan showed a large abscess in the left fronto-temporal lobes. Minimal access awake craniotomy with regional scalp nerve block and sedation was done and about 100-120 cc thick pus was drained. The patient's paralysis improved significantly and neurological deficit ceased on 3rd postoperative day. Pediatric population itself is a challenge for anesthesiologists and this manifolds when associated with complex cardiac defects and neurosurgery cases. Brain abscess is expected to be more common in patients following uncorrected complex congenital heart disease in developing countries. Physicians must hold a high index of suspicion for early diagnosis and well-management of these patients with multidisciplinary approach. Minimal access awake craniotomy with or without sedation for patients with large brain abscess is a safe surgical approach. • Multidisciplinary approach is essential for drainage of brain abscess with complex cardiac defects. • Uncorrected congenital heart defects can lead to brain abscess in developing countries. • Minimal access awake craniotomy is a safe surgical approach for large brain abscesses. [ABSTRACT FROM AUTHOR]

Methods: This retrospective study included 145 consecutive patients who underwent complete atrioventricular (CAVSD) repair between January 2002 and January 2012. Peri-operative data were analyzed. Ninety-two patients had a two-patch technique (group A); 53 patients had a single-patch technique (group B). Results: Mean age was 13.17 ± 4.94 months (group A) versus 5.15 ± 1.52 months (group B), (p

Atrioventricular canal defects represent a diverse and challenging group of defects. Timing and surgical technique is greatly dependent on morphology of the valve as well as symptoms. Surgical options for repair of these defects are reviewed and presented below. [ABSTRACT FROM AUTHOR]