Outcome of ventricular septal defect closure with the Nit-Occlud® Le VSD-Coil: single centre experience.

The objective of this study was to review the outcome of patients who underwent transcatheter closure of ventricular septal defect (VSD) using Nit-Occlud® Leˆ VSD-Coil.A retrospective study was carried out at King Abdulaziz Cardiac Center on all paediatric patients who underwent interventional VSD closure, during the period from 2011 and 2016. Data were collected, including demographic information, cardiac diagnosis, pre-operative diagnosis, intra-operative findings and postoperative events. Out of 46 patients, who were evaluated for VSD device closure, 17 of them were excluded; 24 patients out of 29 had successful closure of VSD using Nit-Occlud Leˆ VSD-Coil (success rate of 83%), and five cases were referred to surgery. The age group was from 2 years up to 18 years. Almost 90% of VSD was the perimembranous (PM) type (26 patients) and 3 patients (10%) with muscular VSD. Ten of the 26 PM VSDs had TV accessory tissue partially covering the VSD defects. The hemodynamic assessment showed pulmonary blood flow to systemic blood flow ratio (Qp:Qs) > 1.5 in almost all the patients who underwent defect closure. Immediate closure of the defect was achieved in 11/24 patients (45%). In five additional patients, there was a tiny residual and eight with a small residual. With 6 months of follow-up, only six patients remained with tiny residual VSD defects.The Nit-Occlud® Leˆ VSD-Coil device has minimal effects on the aortic and tricuspid valves, and there was no permanent atrioventricular block, especially in patients with PM VSDs. Patients with a residual shunt should be followed, especially for haemolysis.

Surgical outcome of Yasui procedure for preserving biventricular function: single centre experience.

BACKGROUND: 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. METHODS: Retrospective chart review analysis of all patients who had Yasui procedure (2008-2020) comparing midterm outcome of one versus two stage repair. RESULTS: 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. CONCLUSION: 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.

Deactivation of left ventricular assist device (LVAD) after recovery of cardiac function: A case report.

Recovery of heart function during support with a durable left ventricular assist device (LVAD) is uncommon. There are few reports of cases that address eliminating the LVAD without the need for a heart transplant. Radical surgical removal of the LVAD may distort the left ventricular cavity and thus affect its function, in addition to the associated risks of the operation. Innovative ways to deactivate the LVAD, relying mainly on vascular plugs implanting in the outflow graft, have been used. Few reports have shown the success of this method. In this case report, we review the story of a young patient with advanced heart failure who underwent LVAD implantation. After six months, there was a dramatic improvement of heart function that enabled successful deactivation of the device.

Stent or Shunt, What Could be Better for Children with Duct Dependent Pulmonary Circulation?

BACKGROUND: Systemic to pulmonary shunt (Shunt) is offered for children with duct dependent pulmonary circulation to augment pulmonary flow. Recently patent ductus arteriosus (PDA) stent (Stent) is widely used as an alternative method. We aimed to compare post intervention outcomes in children underwent either procedure. METHODS: Infants under 3 months who had an initial palliation by Shunt or Stent were retrospectively reviewed between 2008 and 2016, then followed till the second intervention or 1 year whichever earlier. RESULTS: 187 patients (110 Shunt and 77 Stent) were included. Initial weight and pulmonary artery (PA) branches size were similar between the groups. Shunt patients had more shock preoperatively and required more emergency intervention. Stent group showed less ICU stay 4 (1-8) vs 13 (7-23) days, p < 0.0001 and less positive pressure ventilation days 1 (0-2) vs 5.5 (3-11), p < 0.0001. However, Stent group had more symptomatic arterial and deep venous thromboses. In Stent patients the branch PAs growth was better and more homogeneous. At follow-up, no difference between groups regarding cumulative readmission days to hospital, hemoglobin levels and the weight percentile for age. Mortality was not different with a tendency to be higher in the Shunt group (13%) compared to the Stent group (5%), p 0.1. CONCLUSIONS: The implantation of PDA stent in patients with duct dependent pulmonary circulation results in a smoother ICU course and a shorter hospital stay, with higher risk of vascular injury. Shunt and Stent procedures have a good outcome for PA growth, somatic growth and survival.

Categorized Genetic Analysis in Childhood-Onset Cardiomyopathy.

BACKGROUND: Childhood-onset cardiomyopathy is a heterogeneous group of conditions the cause of which is largely unknown. The influence of consanguinity on the genetics of cardiomyopathy has not been addressed at a large scale. METHODS: To unravel the genetic cause of childhood-onset cardiomyopathy in a consanguineous population, a categorized approach was adopted. Cases with childhood-onset cardiomyopathy were consecutively recruited. Based on the likelihood of founder mutation and on the clinical diagnosis, genetic test was categorized to either (1) targeted genetic test with targeted mutation test, single-gene test, or multigene panel for Noonan syndrome, or (2) untargeted genetic test with whole-exome sequencing or whole-genome sequencing. Several bioinformatics tools were used to filter the variants. RESULTS: Two-hundred five unrelated probands with various forms of cardiomyopathy were evaluated. The median age of presentation was 10 months. In 30.2% (n=62), targeted genetic test had a yield of 82.7% compared with 33.6% for whole-exome sequencing/whole-genome sequencing (n=143) giving an overall yield of 53.7%. Strikingly, 96.4% of the variants were homozygous, 9% of which were found in 4 dominant genes. Homozygous variants were also detected in 7 novel candidates (ACACB, AASDH, CASZ1, FLII, RHBDF1, RPL3L, ULK1). CONCLUSIONS: Our work demonstrates the impact of consanguinity on the genetics of childhood-onset cardiomyopathy, the value of adopting a categorized population-sensitive genetic approach, and the opportunity of uncovering novel genes. Our data suggest that if a founder mutation is not suspected, adopting whole-exome sequencing/whole-genome sequencing as a first-line test should be considered.

Percutaneous balloon dilatation for congenital aortic stenosis during infancy: A 15-year single-center experience.

BACKGROUND: Congenital aortic stenosis (AS) is a rare disease. Treatment options for newborns are challenging. Newborns may have higher reintervention rate and mortality. OBJECTIVES: The study aimed to identify the factors predictive of reintervention following balloon aortic valvuloplasty (BAV) for AS during infancy. METHODS: Retrospectively, between 2001 and 2016, echocardiography (echo) and cardiac catheterization data for infants with AS were analyzed, including follow-ups and reinterventions. Percentage reduction was defined as the ratio between the drop of aortic valve (AV) peak gradient and the baseline peak gradient. RESULTS: Sixty infants were included and 48 were followed up. Sixteen (27%) patients were neonates. Peak-to-peak gradient at AV was 64 ± 27 mmHg, which was reduced to 27 ± 13 mmHg. Percentage reduction was 53% ±24%. Forty-nine (82%) patients had adequate results (residual AV gradient <35 mmHg). There was no significant aortic insufficiency (AI) before procedure, while 6 (10%) patients had increased AI immediately after BAV. Of 48 patients, 14 (29%) required an additional BAV. Of 48 patients, 8 (17%) required surgical interventions following BAV. Reintervention was associated more with small left ventricular outflow tract (LVOT), high residual AV, and low percentage reduction. Mortality was 8.3%. CONCLUSIONS: BAV in infancy has a reasonable success rate (82%) with high rate of reintervention. Patent ductus arteriosus-dependent neonates carried the highest risk of mortality. Small LVOT, high AV residual gradient, and low percentage reduction resulted in more reinterventions.

The Phenotype and Outcome of Infantile Cardiomyopathy Caused by a Homozygous ELAC2 Mutation.

OBJECTIVE: Cardiomyopathy (CMP) in children is a clinically and genetically heterogeneous group of disorders. Disease-associated mutations have been identified in more than 50 genes. Recently, mutations in the mitochondrial tRNA processing gene, ELAC2, were reported to be associated with the recessively inherited form of hypertrophic CMP (HCM). This study is aimed at describing the cardiac phenotype and outcome of ELAC2 mutation. METHODS: We performed whole exome sequencing followed by targeted mutation screening to identify the genetic etiology of severe infantile-onset CMP in 64 consanguineous Saudi families. RESULTS: A previously reported mutation (p.Phe154Leu) in ELAC2 gene was detected in 16 families. The index cases presented between 2 and 7 months of age with HCM in 13 infants and dilated CMP (DCM) in 3. Pericardial effusion was observed in 7 infants (44%). All infants died with a median age of death of 4 months. Almost 1/3 of them died during the initial presentation. CONCLUSION: Our study suggests screening the ELAC2 gene in severe infantile-onset HCM or DCM of unknown etiology, especially in the presence of pericardial effusion. Our work demonstrates a universally poor outcome of the (p.Phe154Leu) variant in ELAC2 gene; a correlation that helps in counseling parents and in planning appropriate medical intervention.

Changes in cerebral saturation profile in response to mechanical ventilation alterations in infants with bidirectional superior cavopulmonary connection.

OBJECTIVES: To document cerebral saturation in response to alterations in mechanical ventilation in infants with bidirectional superior cavopulmonary connection. DESIGN: Prospective study. SETTING: Pediatric cardiovascular intensive care unit. PATIENTS: Children with functional single ventricle who have undergone bidirectional superior cavopulmonary connection. INTERVENTIONS: We measured cerebral oxygenation using near-infrared spectroscopy in response to three ventilator interventions (change 50% from baseline): a) hyperventilation with increased tidal volume; b) hyperventilation with increased respiratory rate; and c) hypoventilation by decreased respiratory rate. Physiologic variables documented were cerebral oxygenation index (rSO2i), arterial pH, and PCO2. MEASUREMENTS AND MAIN RESULTS: Ten patients (eight males and two females) underwent placement of bidirectional superior cavopulmonary connection. There were no mortalities. The mean age was months 8.6 (+/-2.1) months. Hyperventilation (tidal volume increase) caused an increase in pH from 7.35 to 7.42 (p = .001), a decreased PCO2 from a baseline 45.9 to 33.9 mm Hg. (p = .002), a decrease in rSO2i from 64.4 to 52.0 (p < .001), and a decreased Po2 from 52.8 to 46.9 mm Hg (p = .008). Hyperventilation (respiratory rate increase) caused increased pH from 7.35 to 7.39 (p = .002), decreased PCO2 from a baseline 41 to 37 mm Hg. (p = .021), decreased rSO2i from 65.9 to 56.7 (p = .007), and decreased PO2 from 54.9 to 48.9 mm Hg (p = .006). Hypoventilation (respiratory rate decrease) did not change pH did not change from baseline 7.35. The PCO2 increased from 40.8 to 42, and the rSO2i increased from 64.0 to 68.6 (p = .004). CONCLUSIONS: Hyperventilation can potentially cause a decrease in cerebral oxygenation and should be avoided in children with bidirectional superior cavopulmonary connection. Normoventilation and mild respiratory acidosis, however, preserve cerebral oxygenation in these patients.