Leftward and Posterior Deviation of the Septum Primum Predicts Morbidity in Patients with Hypoplastic Left Heart Syndrome.

Leftward posterior deviation of the atrial septum primum (LDSP) has been reported in up to 64% of patients with hypoplastic left heart syndrome (HLHS) but there are no published data on its impact on neonatal outcomes. We reviewed the prevalence of LDSP and its correlation with neonatal outcomes in our institution. This was a single-center retrospective study of neonates with HLHS from 2001 to 2019. Echocardiograms were reviewed and the presence or absence of LDSP was noted. To quantify the degree of deviation in patients with LDSP, a new measurement, the deviation index (DI) was calculated using both the subcostal long and short-axis views. Of ninety-four patients with HLHS, fifty-seven (61%) patients were noted to have LDSP. There was no statistically significant difference in gestational age (GA), birth weight (BW), or mortality between patients with and without LDSP. Patients with LDSP had an increased incidence of unplanned reoperation (p < 0.01), post-operative cardiac catheterization (p < 0.05), and post-operative infection (p < 0.05). After correction for GA, BW, HLHS subtype, and type of surgery, LDSP predicted reoperation (OR = 3.6, p < 0.01), catheterization (OR = 2.7, p = 0.05), and infection (OR = 3.4, p < 0.05). Higher degree of deviation predicted reoperation (DI > 0.17), catheterization (DI > 0.07), and infection (DI > 0.12). There was excellent inter-observer reproducibility of the DI (ICCabsolute-agreement = 0.82, ICCconsistency = 0.90). Patients with LDSP have a higher prevalence of post-operative morbidity. The degree of deviation was found to be predictive of post-operative complications. Pre-operative echocardiographic evaluation of LDSP in patients with HLHS may be helpful in risk stratification and counseling.

Chromosomal microarray detects genetic risks of neurodevelopmental disorders in newborns with congenital heart disease.

OBJECTIVE: To compare the genetic testing results of neonates with CHD by chromosomal microarray to karyotyping and fluorescence in situ hybridisation analysis. METHODS: This was a single-centre retrospective comparative study of patients with CHD and available genetic testing results admitted to the cardiac ICU between January, 2004 and December, 2017. Patients from 2004 to 2010 were tested by karyotyping and fluorescence in situ hybridisation analysis, while patients from 2012 to 2017 were analysed by chromosomal microarray. RESULTS: Eight-hundred and forty-nine neonates with CHD underwent genetic testing, 482 by karyotyping and fluorescence in situ hybridization, and 367 by chromosomal microarray. In the karyotyping and fluorescence in situ hybridisation analysis group, 86/482 (17.8%) had genetic abnormalities detected, while in the chromosomal microarray group, 135/367 (36.8%) had genetic abnormalities detected (p < 0.00001). Of patients with abnormal chromosomal microarray results, 41/135 (30.4%) had genetic abnormality associated with neurodevelopmental disorders that were exclusively identified by chromosomal microarray. Conotruncal abnormalities were the most common diagnosis in both groups, with karyotyping and fluorescence in situ hybridisation analysis detecting genetic abnormalities in 26/160 (16.3%) patients and chromosomal microarray detecting abnormalities in 41/135 (30.4%) patients (p = 0.004). In patients with d-transposition of the great arteries, 0/68 (0%) were found to have genetic abnormalities by karyotyping and fluorescence in situ hybridisation compared to 7/54 (13.0%) by chromosomal microarray. CONCLUSIONS: Chromosomal microarray identified patients with CHD at genetic risk of neurodevelopmental disorders, allowing earlier intervention with multidisciplinary care and more accurate pre-surgical prognostic counselling.

Brimonidine Toxicity Secondary to Topical Use for an Ulcerated Hemangioma.

Combigan (Allergan, Irvine, CA) is an ophthalmic solution that combines 0.2% brimonidine, a selective α-2 adrenergic agonist, with 0.5% timolol, a nonselective ß-adrenergic antagonist. It is approved for the reduction of intraocular pressure in patients with glaucoma or ocular hypertension. There have been recent reports of successful treatment of superficial infantile hemangiomas (IHs) using Combigan topically. We report the case of a 2-month-old girl who developed life-threatening brimonidine toxicity requiring intubation and mechanical ventilation secondary to central nervous system depression and apnea after topical application to an ulcerated IH.