Ivemark syndrome is a rare heterotaxy disorder characterized by right atrial isomerism, complex congenital heart defects, and thoraco-abdominal anomalies. Because of such defects, survival beyond infancy is rare. We report a case of a 31-year-old North African male with lifelong cyanosis who presented with worsening exertional dyspnea and fatigue. A segmental approach revealed heterotaxy with right atrial isomerism, a complete atrioventricular septal defect, a functional single ventricle with L-transposition of the great arteries, and severe valvular and supravalvular pulmonic  stenosis. Despite these complex anomalies, the patient maintained a balanced circulation that enabled survival into adulthood. A multidisciplinary team recommended a palliative care approach, including intravenous hydration, iron supplementation, allopurinol, and preventive measures for infective endocarditis. The patient remains under regular noninvasive follow-up, with a stable condition. This case highlights the rare adult presentation of Ivemark syndrome. Long-term survival is exceptionally rare and depends on balanced hemodynamics, comprehensive evaluation, and individualized multidisciplinary care.

Absence of the ductus arteriosus (DA) is common in tetralogy of Fallot (TOF), occurring in up to 30% of cases. Yet, the clinical course and fetal echocardiographic features are not well described, limiting prenatal counseling. This study examines the fetal echocardiographic characteristics and perinatal outcomes in children with TOF absent DA (TOF/ADA), comparing them to those with a DA (TOF/DA). Fetal echocardiograms were retrospectively reviewed in children with TOF evaluated at our center between 12/1/2014 and 11/1/2022. Those with complete atrioventricular septal defect, pulmonary atresia or absent pulmonary valve were excluded. Diagnosis of TOF and absence of the DA were postnatally confirmed. Fetal echocardiographic indices, clinical characteristics, and perinatal course were compared between groups. The primary outcome was intervention (surgical or catheter-based) in the first 30 days of life. Among 58 fetuses with TOF, 23 (40%) had ADA, and 35 (60%) had a DA. The groups were similar in gestational age, with similar Apgar scores. Four neonates required interventions for cyanosis: 2 with TOF/ADA and 2 with TOF/DA. One TOF/ADA patient died within the first year of life, from non-cardiac causes. Those with TOF/ADA had smaller third trimester main pulmonary artery (MPA) z-scores (- 2.75 vs. - 2.18, p = 0.02) and smaller neonatal pulmonary valve, MPA, and branch pulmonary artery z-scores. A genetic diagnosis was more common with ADA, specifically 22q11.2 deletion (22%, p = 0.03). While there were differences observed across groups, including smaller fetal and neonatal right ventricular outflow tract size and more diagnoses of 22q11.2 in ADA, absence of the DA was not linked to poorer clinical outcomes. This study expands our understanding of fetal echocardiographic findings and clinical trajectory in TOF/ADA, offering crucial insights for consultation and postnatal planning.

We describe a trisomy 21 patient with postnatal diagnosis of atrioventricular septal defect with isolated ventricular component who had a complicated post-surgical course following complete repair. Clinical outcomes included moderate-severe residual atrioventricular valve regurgitation needing re-operation, complete heart block leading to pacemaker insertion, seizures secondary to subdural haemorrhages, and chylothorax. We describe the surgical considerations specific to this cardiac morphology.

A patient with borderline left ventricle successfully underwent biventricular repair following a staged surgical approach to promote left ventricular growth. Despite initial concerns about left ventricle size, apex formation and adequate size of atrioventricular valve indicated potential for future growth. The patient demonstrated significant left ventricular growth, resulting in stable biventricular circulation and a favourable outcome over a three-year postoperative follow-up period.Clinical Registration Number: Institutional Review Board of Osaka City General Hospital, number 1902139.

Patients with complete atrioventricular canal have a variable clinical course prior to repair. Many patients balance their circulations well prior to elective repair. Others manifest clinically significant pulmonary over circulation early in life and require either palliative pulmonary artery banding or complete repair. The objective of this study was to assess anatomic features that impact the clinical course of patients. In total, 222 patients underwent complete atrioventricular canal repair between 2012 and 2022 at a single institution. Twenty-seven (12%) patients underwent either pulmonary artery banding (n = 15) or complete repair (n = 12) at less than 3 months of age (Group 1). The remaining 195 (88%) underwent repair after 3 months of age (Group 2). Patient records and imaging were reviewed. The median post-operative length of stay following complete repair was 25 [7,46] days for those patients in Group 1 and 7 [5,12] days for those in Group 2 (p < 0.0001). There was relative hypoplasia of left-sided structures in Group 1 versus Group 2. Mean z-score for the ascending aorta was -1.2 (±0.8) versus -0.3 (±0.9) (p < 0.0001), the aortic isthmus was -2.1 (±0.8) versus -1.4 (±0.8) (p = 0.005). The pulmonary valve to aortic valve diameter ratio was median 1.47 [1.38,1.71] versus 1.38 [1.17,1.53] (p 0.008). Echocardiographic evaluation of the systemic and pulmonary outflow of patients with complete atrioventricular canal may assist in predicting the clinical course and need for early repair vs pulmonary artery banding.