Esquirol-Séguin-Down Syndrome Associated with Atrial Septal Defect plus Tricuspid Regurgitation

Background: Esquirol-Séguin-Down syndrome (Trisomy 21) was first described by Jean-Etienne Dominique Esquirol in 1838 and later by Edouard Séguin in 1846. Thereafter, in 1862, John Langdon Down, a British physician emphasized that the syndrome is a distinct form of mental retardation. Congenital cardiac defects are observed in more than one third of the patients with Esquirol-Séguin-Down syndrome, and in approximately 80% these cardiac defects are atrioventricular septal defect or ventricular septal defect with the former being more common. The association of Esquirol-Séguin-Down syndrome with atrial septal defect plus tricuspid regurgitation has been rarely reported. The aim of this paper is to report the rare association of Esquirol-Séguin-Down syndrome with atrial septal defect plus tricuspid regurgitation. Patients and methods: Two and half years old boy with Esquirol-Séguin-Down syndrome, developmental delay and abnormal echocardiography was studied, and the recent relevant literatures were reviewed. Results: Dysmorphic facial features included hypertelorism, oblique palpebral fissures, epicanthic folds, depressed nasal bridge and low set ears. Echocardiography showed atrial septal defect with tricuspid regurgitation. Conclusion: This paper reports the first case of Esquirol-Séguin-Down syndrome in Iraq associated with atrial septal defect plus tricuspid regurgitation.

Surgical Management of Hearts with Isomeric Atrial Appendages

Background and aim: On the basis of previously published accounts, coupled with our own experience, we have assessed the surgical approaches to patients with isomeric atrial appendages. Methods: We reviewed pertinent published studies on surgical treatment of individuals with isomeric atrial appendages, with the pertinent surgical details provided by most of the manuscripts. Results: Half of patients with right isomerism, and two-thirds of those with left isomerism have bilateral superior caval veins. Azygos extension of the inferior caval vein is reported in three-quarters of those with left isomerism. The coronary sinus is universally absent in right isomerism, along with totally anomalous pulmonary venous connection, and is absent in two-fifths of those with left isomerism.. Univentricular atrioventricular connections are expected in up to three-quarters of those with right isomerism. Atrioventricular septal defect is reported in up to four-fifths, more frequently in right isomerism, with such patients typically having discordant ventriculoatrial connections or double outlet right ventricle. Reported mortalities extend to 85% for those with right, and 50% for those with left isomerism. In right isomerism, mortality is up to 54% for systemic-to-pulmonary arterial shunting, up to 75% for univentricular repair, and up to 95% for repair of totally anomalous pulmonary venous connection itself. No more than one-quarter had undergone Fontan completion, with reported mortalities of 21%. Conclusion: Early surgical results are satisfactory in patients with left isomerism, but disappointing for those with right. Recent advances in cardiac and liver transplantation may offer improved survival.

Common Arterial Trunk Associated with Functionally Univentricular Heart: Anatomical Study and Review of the Literature

Common arterial trunk (CAT) is a rare congenital heart disease that is commonly included into the spectrum of conotruncal heart defects. CAT is rarely associated with functionally univentricular hearts, and only few cases have been described so far. Here, we describe the anatomical characteristics of CAT associated with a univentricular heart diagnosed in children and fetuses referred to our institution, and we completed the anatomical description of this rare condition through an extensive review of the literature. The complete cohort ultimately gathered 32 cases described in the literature completed by seven cases from our unit (seven fetuses and one child). Four types of univentricular hearts associated with CAT were observed: tricuspid atresia or hypoplastic right ventricle in 16 cases, mitral atresia or hypoplastic left ventricle in 12 cases, double-inlet left ventricle in 2 cases, and unbalanced atrioventricular septal defect in 9 cases. Our study questions the diagnosis of CAT as the exclusive consequence of an anomaly of the wedging process, following the convergence between the embryonic atrioventricular canal and the common outflow tract. We confirm that some forms of CAT can be considered to be due to an arrest of cardiac development at the stages preceding the convergence.

Unbalanced atrioventricular septal defect with dominant right ventricle: diagnostic criteria, indications for biventricular correction, and results. A clinical observation series

Relevance: Surgical treatment for congenital heart disease (CHD) with borderline left ventricle (LV) dimensions is one of the most challenging issues in current pediatric cardiac surgery. Despite the prevailing general trend to the expansion of indications for biventricular repair of an unbalanced atrioventricular septal defect (AVSD) with a dominant right ventricle (RV), the diagnostic criteria for imbalance, feasibility of radical repair and its functional results are intensively discussed in the literature.Aim: To present quantitative criteria for the assessment of the LV size which could serve as an indication for biventricular repair of the right dominant unbalanced AVSD.Materials and methods: We present a series of 4 patients with AVSD and dominant RV, who underwent radical repair of the defect. The mean age of the patients was 2.4 years, and 3 of 4 had concomitant CHD: tetralogy of Fallot, double outlet right ventricle with pulmonary artery stenosis, and moderate hypoplasia of the aortic arch with subaortic stenosis. Three of 4 patients had previously undergone palliative interventions: two of them – pulmonary bending, one, the first stage of univentricular repair (atrioseptostomy, cavopulmonary anastomosis). Two children had been diagnosed with Down syndrome. The mean left ventricular end diastolic diameter (LVEDD) at baseline was 17.9 mm, corresponding to Z score of -5.4.Results: All four patients underwent biventricular repair of the defect with a two-patch technique. In one case, it was supplemented with placement of the pulmonary trunk homograft prosthesis, in the other with pulmonary valve commissurotomy and cavopulmonary anastomosis due to moderate tricuspid valve stenosis and in the third case the mitral valve was replaced. In 3 patients pacemaker implantation was performed. The criterion for feasibility of complete septation was the ratio of the longitudinal dimensions of the left and right ventricles (LAR > 0.7), confirmed by computed tomography performed before the surgery. The mean LVEDD after surgery was 28.3 mm, corresponding to Z score of -0.8. At the time of the hospital discharge, the left and right atrioventricular valves insufficiency did not exceed 2 and 1 degrees, respectively.Conclusion: Computed tomography allows for accurate measurement and comparison of the longitudinal dimensions of the heart ventricles with LAR index as a tool for assessment of the LV size before the biventricular repair. An additional prospective study is required to objectify the data obtained and identify predictors of an unfavorable outcome of radical repair in patients with right dominant unbalanced AVSD.

Maternal use of cough medications during early pregnancy and selected birth defects: a US multisite, case–control study

ObjectiveTo examine associations between maternal use of cough medications containing dextromethorphan (DM) without guaifenesin (glyceryl guaiacolate (GG)) (‘DM alone’), GG without DM (‘GG alone’) or DM +GG and major birth defects in offspring.DesignPopulation-based case–control study.SettingThe multisite, US National Birth Defects Prevention Study.ParticipantsMothers of 1644 children with neural tube defects (NTDs), 15 110 with non-NTDs, and 10 671 control children without a birth defect diagnosis.Main outcome measuresORs and 95% CIs.ResultsFor NTD analysis, 1.7% of mothers of case children and 1.2% of mothers of control children reported using DM alone, 1.1% and 0.6% GG alone, and 0.4% and 0.2% DM +GG. Respective percentages for non-NTD analysis were 2.2% and 1.9% for DM alone, 1.7% and 1.6% for GG alone, and 0.5% and 0.4% for DM +GG. For all NTDs and subtypes, adjusted OR estimates for DM alone were near the null with 95% CIs that included 1.0. Estimates (95% CI) were 1.8 (1.0 to 3.3) for GG alone and 1.8 (0.6 to 4.8) for DM +GG with all NTDs and 2.2 (1.1 to 4.3) for GG alone with spina bifida. Of the 45 adjusted OR estimates for non-NTDs, 39 ranged from 0.5 to 1.6 with 95% CIs that included 1.0. Near twofold or higher estimates (95% CI) were observed for the remainder and included 1.9 (1.0 to 3.7) for hydrocephalus, 2.9 (1.3 to 6.5) for atrioventricular septal defect and 1.8 (1.1 to 3.0) for transverse limb deficiency with DM alone; 2.1 (1.1 to 4.0) for small intestinal atresia/stenosis and 2.1 (0.9 to 4.5) for omphalocele with GG alone; and 3.2 (1.5 to 6.9) for gastroschisis with DM +GG.ConclusionsMaternal use of medications containing DM alone, GG alone or DM +GG showed positive associations with a small number of birth defects. These observations, which should be interpreted with caution due to small proportions of exposed mothers, may represent true signals or chance findings and warrant evaluation in future studies.

Long-Term Outcome Up To 40 Years after Single Patch Repair of Complete Atrioventricular Septal Defect in Infancy or Childhood

Objectives Patients with repaired complete atrioventricular septal defect (CAVSD) represent an increasing portion of grown-ups with congenital heart disease. For repair of CAVSD, the single-patch technique has been employed first. This technique requires division of the bridging leaflets, thus, among other issues, long-term function of the atrioventricular valves is of particular concern. Methods Between 1978 and 2001, 100 consecutive patients with isolated CAVSD underwent single-patch repair in our institution. Hospital mortality was 11%. Primary endpoints were clinical status, atrioventricular valve function, and freedom from reoperation in long term. Follow-up was obtained contacting the patient and/or caregiver, and the referring cardiologist. Results Eighty-three patients were eligible for long-term follow-up (21.0 ± 8.7, mean ± standard deviation [21.5; 2.1–40.0, median; min–max] years after surgical repair). Actual long-term mortality was 3.4%. Quality of life (QoL; self- or caregiver-reported in patients with Down syndrome) was excellent or good in 81%, mild congestive heart failure was present in 16%, moderate in 3.6% as estimated by New York Heart Association classification. Echocardiography revealed normal systolic left ventricular function in all cases. Regurgitation of the right atrioventricular valve was mild in 48%, mild–moderate in 3.6%, and moderate in 1.2%. The left atrioventricular valve was mildly stenotic in 15% and mild to moderately stenotic in 2%; regurgitation was mild in 54%, mild to moderate in 13%, and moderate in 15% of patients. Freedom from left atrioventricular-valve-related reoperation was 95.3, 92.7, and 89.3% after 5, 10, and 30 years, respectively. Permanent pacemaker therapy, as an immediate result of CAVSD repair (n = 7) or as a result of late-onset sick sinus syndrome (n = 5), required up to six reoperations in single patients. Freedom from pacemaker-related reoperation was 91.4, 84.4, and 51.5% after 5, 10, and 30 years, respectively. Conclusion Up to 40 years after single-patch repair of CAVSD, clinical status and functional results are promising, particularly, in terms of atrioventricular valve function. Permanent pacemaker therapy results in a life-long need for surgical reinterventions.

Mid Term Results of Fenestrated Intra-Extracardiac Fontan Procedure: Insights, Experiences and Expectations

Background: Intraextracardiac Fontan procedure aimed to combine the advantages of lateral tunnel and extracardiac conduit modifications of the original technique. Herein, we present our experience in our patients with intraextracardiac fenestrated Fontan Procedure. Methods: A retrospective analysis was performed in order to evaluate intraextracardiac fenestrated Fontan patients between 2014 and 2021. Seventeen patients were operated on with a mean age and body weight of 9.1 ± 5.5 years and 28.6 ± 14.6 kg. Results: Sixteen patients (94%) were palliated as univentricular physiology with hypoplasia of one of the ventricles. One patient (6%) with well-developed two ventricles with double outlet right ventricle and complete atrioventricular septal defect had straddling of the chordae prohibiting a biventricular repair. All of the patients had cavopulmonary anastomosis prior to Fontan completion, except one case. Fenestration was performed in all cases. Postoperative mean pulmonary artery pressures and arterial oxygen saturation levels at follow up were 10 ± 2.4 mmHg and 91.3 ± 2.7 %, respectively. Mean duration of pleural drainage was 5.4 ± 2.3 days. All of the fenestrations are patent at a mean follow up period of 4.8 ± 7.7 years, except one case. Any morbidity and mortality were not encountered. Conclusions: The mid-term results of intraextracardiac fenestrated Fontan procedure are encouraging. This procedure may improve the results in a patient population who should be palliated as univentricular physiology, especially in cases with complex cardiac anatomy.