Infective endocarditis presents unique challenges, particularly in individuals with congenital heart diseases, such as this case, where the patient had tetralogy of Fallot physiology secondary to double outlet right ventricle, and Fanconi anemia. This case describes how the combination of multiple factors necessitated multidisciplinary management. A 45-year-old South Asian male patient with a known history of tetralogy of Fallot physiology secondary to double outlet right ventricle presented to our emergency department with fatigue, fever, and neurological deficits suggestive of an embolic stroke. Transthoracic echocardiography revealed severe pulmonary stenosis and a significant subaortic ventricular septal defect with vegetations, indicative of infective endocarditis. Magnetic resonance imaging of the brain demonstrated multiple infarcts, suggestive of an embolic event. Blood cultures grew Streptococcus mitis. The patient was admitted to the intensive care unit and treated with aggressive antibiotic therapy. However, his clinical course was complicated by disseminated intravascular coagulation and acute kidney injury, requiring hemodialysis and transfusion support. Despite interventions, his condition deteriorated further. Genetic consultation indicated Fanconi anemia, adding complexity to his clinical management. This case is remarkable because the patient survived up into adulthood with double outlet right ventricle and tetralogy of Fallot physiology without prior corrective surgery, which is a rare occurrence. The embolic stroke, likely resulting from a septic embolus, and the presence of Fanconi anemia further complicated the clinical scenario. Despite aggressive treatment, the patient's progression to refractory sepsis and disseminated intravascular coagulation ultimately resulted in cardiac arrest. This case underscores the importance of early recognition, multidisciplinary collaboration, and tailored therapeutic strategies in managing complex congenital heart diseases with infective endocarditis and other comorbidities.

Criss-cross heart (CCH) is a rare congenital malformation in which the atrioventricular inflow vectors are approximately perpendicular. CCH is associated with other defects including malposition of the great arteries, supero-inferior ventricles, and ventricular septal defects (VSD). A recent study in a mouse model demonstrates that CCH and associated malformations can be the result of a growth arrest of the outflow tract. In order to confront this hypothesis, we studied 16 cases of criss-cross heart with detailed anatomical description and clinical outcomes. All patients with criss-cross heart diagnosed in Necker –Enfants Malades Hospital from 1999 to 2022 were included in a retrospective study. Echocardiography, CT scans and anatomical MRIs were reviewed. Segmental analysis according to Van Praagh was SDL in 11 patients, SDD in 4 and SDA in 1. The ventricles were supero-inferior in 12 patients (75%). Ventriculo-arterial connections were always abnormal: double outlet right ventricle in 15/16 with a bilateral conus in 11 and a subaortic conus in 4, transposition of the great arteries in 1. The pulmonary valve was stenotic or atretic in 12 patients (75%). All patients had a VSD opening in the inlet of the right ventricle: inlet only in 8 patients, confluent inlet/outlet in 6, inlet with muscular extension in 2. Fifteen (94%) patients underwent surgery, univentricular repair in 13/16 (81%), biventricular in two. Criss-cross heart is always associated with a malposition of the great vessels and a VSD, always of the inlet type. Anatomical characteristics are similar to the ones observed in the mouse model for CCH, suggesting similar developmental mechanisms. The malposition of the great vessels might be due to a defective growth of the outflow tract. The constant finding of a VSD of the inlet type is consistent with an abnormal rotation of the atrioventricular canal.

We report the case of a complex congenital heart disease that accounts for unusual clinical presentation: subtle cyanosis and absence of murmur in a pediatric patient with double-outlet right ventricle, subaortic ventricular septal defect and severe pulmonary stenosis. Echocardiography revealed a large aorto-pulmonary window supplying the pulmonary arteries at systemic pressure.

Background: Mullegama-Klein-Martinez syndrome (MKMS; OMIM #301022) is an X-linked cohesinopathy caused by pathogenic variants in STAG2, which encodes a subunit of the cohesin complex responsible for chromosomal segregation and transcriptional regulation. Individuals typically present with developmental delay, microcephaly, dysmorphic features, and variable congenital anomalies, though complex cardiac malformations are uncommon. Case Presentation: We report a female infant presenting on the first day of life with complex congenital heart disease, including pulmonary atresia, double-outlet right ventricle, large subaortic ventricular septal defect, and patent ductus arteriosus. She exhibited intrauterine growth restriction, mild craniofacial dysmorphism, and left upper-extremity hypotonia. Stepwise genetic evaluation revealed a de novo likely pathogenic STAG2 frameshift variant, c.2972_2975dup (p.His992Glnfs*11), identified by rapid trio whole-exome sequencing. This variant truncates the C-terminal domain critical for cohesin binding. A 3D structural model generated by SWISS-MODEL demonstrated disruption of β-strand and loop conformations within this domain, consistent with loss of cohesin complex stability. Conclusions: This case expands the phenotypic spectrum of STAG2-related MKM and highlights the role of STAG2 in cardiac development. Recognition of such presentations supports the inclusion of STAG2 in the differential diagnosis for complex congenital heart disease and underscores the diagnostic utility of rapid trio exome sequencing in neonatal care. The utility of 3D protein modeling to illustrate structural consequences of truncating variants provides valuable insight into variant pathogenicity and supports precision diagnosis in cohesinopathies.

Manually modified microvascular plugs (MVPs) to pulmonary flow restrictors (PFRs) are innovative devices for managing pulmonary overcirculation percutaneously, though achieving optimal restriction while maintaining device stability can be challenging. We describe a full-term newborn with a double outlet right ventricle and a large malaligned subaortic ventricular septal defect, complicated by pulmonary overcirculation. At 24 days of life (2.4 kg, 50 cm), bilateral MVP-based PFRs were implanted, with an MVP-7Q placed in the right pulmonary artery (4.1 mm diameter) and an MVP-5Q in the left (3.8 mm diameter), after fenestrating the MVPs by removing one triangle with a surgical scalpel. Immediate severe flow restriction to the right lung was managed with dilation of the para-right PFR space using 2 mm and then 3 mm semi-compliant coronary balloons, increasing oxygen saturation from 60 to 87%. By the end of the procedure, the Qp: Qs ratio decreased from 2.3:1.0 to 1.1:1.0. At 12 weeks, the patient weighed 4.8 kg, with oxygen saturation at 92% and Doppler gradients of 70 mmHg on the left and 45 mmHg on the right. Nine months post-intervention, the patient underwent biventricular repair and PFR removal at 7.9 kg. A fibrotic endothelial reaction with wall thinning on the right required autologous patch repair. A two-week follow-up ultrasound showed no stenosis. Para-device space dilation with semi-compliant coronary balloons effectively relieves severe flow restriction in oversized PFRs, restoring flow while preserving device integrity. However, long-standing oversized PFRs cause intimal damage, necessitating patch repair, despite excellent surgical outcomes. Not applicable.