Antenatal occlusion of a ductal arteriosus aneurysm: a potential postnatal surgical emergency. Case report and literature review.

Symptomatic presentation of ductal arteriosus aneurysm is usually a consequence of associated complications, including thromboembolism, infection, and compression of adjacent structures. In this case report, we present a thrombosed ductal aneurysm that developed antenatally with further postnatal progression of the thrombus and complete occlusion of the left pulmonary artery. Urgent surgical thrombectomy was successful and the post-operative course was uneventful.

Complicated ventricular arrhythmia and hematologic myeloproliferative disorder in RIT1-associated Noonan syndrome: Expanding the phenotype and review of the literature.

BACKGROUND: Noonan syndrome is an autosomal dominant disorder secondary to RASopathies, which are caused by germ-line mutations in genes encoding components of the RAS mitogen-activated protein kinase pathway. RIT1 (OMIM *609591) was recently reported as a disease gene for Noonan syndrome. METHODS AND RESULTS: We present a patient with RIT1-associated Noonan syndrome, who in addition to the congenital heart defect, had monocytosis, myeloproliferative disorder, and accelerated idioventricular rhythm that was associated with severe hemodynamic instability. Noonan syndrome was suspected given the severe pulmonary stenosis, persistent monocytosis, and "left-shifted" complete blood counts without any evidence of an infectious process. Genetic testing revealed that the patient had a heterozygous c.221 C>G (pAla74Gly) mutation in the RIT1. CONCLUSION: We report a case of neonatal Noonan syndrome associated with RIT1 mutation. The clinical suspicion for Noonan syndrome was based only on the congenital heart defect, persistent monocytosis, and myeloproliferative process as the child lacked all other hallmarks characteristics of Noonan syndrome. However, the patient had an unusually malignant ventricular dysrhythmia that lead to his demise. The case highlights the fact that despite its heterogeneous presentation, RIT1-associated Noonan syndrome can be extremely severe with poor outcome.

Anomalous Origin of Left Coronary Artery From Right Pulmonary Artery in Association With Scimitar Syndrome.

This paper reports a unique case of anomalous origin of the left coronary artery from the right pulmonary artery associated with scimitar syndrome. The presence of pulmonary hypertension may have contributed to maintain coronary perfusion, which likely prevented early significant coronary steal. This study reports the clinical course, diagnosis challenges, and management strategy. (Level of Difficulty: Intermediate.).

Chronic Low Dose Prostaglandin and Neonatal Heart Block.

Long-term prostaglandin use is commonly associated with side effects such as cortical proliferation of the bones, hypertrophic pyloric stenosis, and soft tissue swelling of the extremities. We report a neonate with critical coarctation of the aorta, who developed second and third degree atrioventricular blocks associated with prolonged prostaglandin E1 (PGE1) infusion. Interestingly, these conduction blocks only occurred at low PGE1 dose. The rhythm disturbances resolved promptly with the discontinuation of PGE1 following surgical repair.

Hypoplastic Left Heart Syndrome with Congenital Complete Heart Block.

Congenital complete atrioventricular block (CCAVB) is a rare condition with an incidence of 1 of 20,000 live births. Hypoplastic left heart syndrome (HLHS) occurs more frequently than CCAVB and occurs in 1 of 5000 live births. HLHS in association with CCAVB is exceedingly rare. In this report, we describe a rare case of HLHS and CCAVB diagnosed in utero. Postnatal diagnosis, management and outcome are presented as well as review of the medical literature.

Cerebral tissue oxygenation index and lactate at 24 hours postoperative predict survival and neurodevelopmental outcome after neonatal cardiac surgery.

IMPORTANCE: There are no well-established noninvasive biomarkers for identifying patients at risk for poor outcome after surgery for congenital heart disease. Few studies have assessed prognostic accuracy of cerebral tissue oxygenation index (cTOI) measured by near infrared spectroscopy (NIRS). OBJECTIVE: To assess the utility of noninvasive NIRS monitoring as a predictor of outcomes after neonatal cardiac surgery through measurement of cTOI. To examine the utility of noninvasive NIRS monitoring in combination with lactate concentration and inotropic score in prediction of outcomes after neonatal cardiac surgery. DESIGN: Prospective longitudinal cohort study. SETTING: Operating room and cardiac intensive care unit, Children's National Heart Institute. PARTICIPANTS: Seventy-five patients with complex congenital heart disease undergoing surgical repair within first month of life. EXPOSURE: Cerebral TOI, blood lactate, and inotropic scores were measured preoperative, intraoperative and up to 24 hours postoperative. MAIN OUTCOME MEASURES: Postoperative mortality and neurodevelopmental outcome assessed by the Bayley Scales of Infant Development (BSID II). Mental and motor scores were obtained at 6, 15, and 21 months. Good outcome was defined as survival and BSID mental and motor scores ≥70 points. Poor outcome was defined as death or BSID scores <70 at most recent follow-up. RESULTS: Cohort of 75 patients prospectively followed including 40 patients with single ventricle and 35 with two ventricles. Four patients died before discharge and ten died within 21 months. Seven patients were lost to follow-up. Among survivors with follow-up (n = 54), BSID was abnormal in 25 (46%). Patients with poor outcome (n = 39) had lower mean cTOI 60 minutes off-CPB (48% vs. 58%, P = .003) and 24 hours postoperative (49% vs. 59%, P < .001), higher lactate (8.2 vs. 5.0 mmol/L, P = .005) and higher inotropic scores (10 vs. 6, P = .02) at 24 hours postoperative. ROC analysis indicated that cTOI had moderate predictive accuracy of outcome (AUC = 0.751, P < .001). Multivariable regression analysis confirmed that predictive accuracy was improved using both cTOI and lactate at 24 hours postoperative (AUC = 0.813, 95% CI: 0.705-0.921, P < .001) with optimal cutoff values <58% and >7.4 mmol/L, respectively (sensitivity = 95%). CONCLUSION: Cerebral TOI combined with lactate at 24 hours postoperative are accurate non-invasive predictive biomarkers of patient survival and neurodevelopmental outcome in neonates with CHD undergoing cardiac surgery.