Prenatal detection of congenital heart disease: Recent experience across the state of Arizona.

OBJECTIVE: To determine the prenatal detection rate (PDR) of congenital heart disease (CHD) in Arizona as well as describe various factors that may influence detection rates. METHODS: This was a retrospective chart review using the Society of Thoracic Surgeons and Phoenix Children's Fetal Cardiology databases. We included all cases of CHD requiring surgery <1 year of age between 2013 and 2018. A total of 1137 patients met the criteria, and various demographic, socioeconomic, and patient outcome data were collected. RESULTS: The overall PDR was 58% with an improving detection rate over the course of our study, with the final year having a PDR of 67%. Over time, PDR improved in urban communities, but this was not seen in rural communities. Rural address, public insurance, and Native American ethnicity were associated with lower PDR. Postnatal outcomes, including Apgars, initial pH, and lactate, did not differ with the presence of a prenatal diagnosis. Diagnoses typically identified with the outflow tract and 3-vessel views on the fetal echocardiogram were less likely to be detected prenatally. CONCLUSIONS: The PDR of CHD continues to improve with evolving technologies and guidelines. We highlight a discrepancy between urban, rural, and Native American populations. Additionally, by supplying descriptors of missed diagnosis and associated echocardiography views, we hope to provide data for future interventions.

Prinzmetal angina in a child with actin gene ACTC1 mutation.

Prinzmetal angina is a rare cause of intermittent chest pain in paediatrics. Here, we report the case of a 2-year-old female who presented with episodic chest pain, malaise, diaphoresis, fatigue, and poor perfusion on exam. During her hospitalisation, these episodes were associated with significant low cardiac output as evidenced by lactic acidosis and low mixed venous oxygen saturations. Her workup revealed an actin alpha cardiac muscle 1 (ACTC1) gene mutation and associated left ventricular non-compaction with decreased systolic function. She was started on oral heart failure medications as well as a calcium channel blocker but continued to have episodes which were found to promptly resolve with nitroglycerine. She was ultimately listed for cardiac transplant given her perceived risk of sudden death.