ECG Abnormalities, Diastolic Blood Pressure, and Adverse Events After Systemic to Pulmonary Artery Shunt in Infants with Congenital Heart Disease.

All patients with Systemic to Pulmonary Artery (SPA) shunt as the index surgical procedure at a single center were studied to determine the association between post-operative ECG repolarization abnormalities, diastolic blood pressure (DBP), and adverse outcomes. Postoperative ECGs were categorized into three grades, Grade 2 defined as ST elevation/depression ≥ 2 mm in ≥ 2 precordial or ≥ 1 mm in ≥ 2 limb leads; Grade 1-T-wave inversion or flattening in ≥ 3 leads; and Grade 0-no criteria for grades 1 or 2. For each patient, time with invasive DBP below 25, 25-29, 30-34, or above 34 mmHg in the first 24 h was calculated. The primary outcome was a pre-discharge composite of death, cardiac arrest, ECMO, unplanned shunt reintervention, and necrotizing enterocolitis after 24 h of surgery. Of the 109 patients included in final analysis, 17 (15.6%) had the composite outcome. Grade 2 ECG abnormality occurred in 12%, and Grade 1 in 37%. There was no association between ECG abnormalities and adverse events. Increasing time with DBP < 30 was not associated with adverse outcomes, while increasing time with DBP 30-34 was associated with decreased odds, and increasing time with DBP > 34 mmHg was associated with increased odds of adverse outcomes on multivariable analysis accounting for indexed shunt size and chromosomal abnormalities. In conclusion, after SPA shunt placement, ECG repolarization abnormalities and low DBP within 24 h were common and not associated with adverse outcomes. Sustained elevation of DBP above 34 mmHg was not protective, especially in patients with high indexed shunt size and chromosomal abnormalities.

Rapid genome diagnosis of alveolar capillary dysplasia leading to treatment in a child with respiratory and cardiac failure.

Alveolar capillary dysplasia (ACD) is a fatal disorder that typically presents in the neonatal period with refractory hypoxemia and pulmonary hypertension. Lung biopsy is traditionally required to establish the diagnosis. We report a 22-mo-old male who presented with anemia, severe pulmonary hypertension, and right heart failure. He had a complicated hospital course resulting in cardiac arrest and requirement for extracorporeal membrane oxygenation. Computed tomography of the chest showed a heterogenous pattern of interlobular septal thickening and pulmonary edema. The etiology of his condition was unknown, lung biopsy was contraindicated because of his medical fragility, and discussions were held to move to palliative care. Rapid whole-genome sequencing (rWGS) was performed. In 2 d it resulted, revealing a novel FOXF1 gene pathogenic variant that led to the presumptive diagnosis of atypical ACD. Cases of atypical ACD have been reported with survival in patients using medical therapy or lung transplantation. Based on the rWGS diagnosis and more favorable potential of atypical ACD, aggressive medical treatment was pursued. The patient was discharged home after 67 d in the hospital; he is currently doing well more than 30 mo after his initial presentation with only one subsequent hospitalization and no requirement for lung transplantation. Our case reveals the potential for use of rWGS in a critically ill child in which the diagnosis is unknown. rWGS and other advanced genetic tests can guide clinical management and expand our understanding of atypical ACD and other conditions.