Clinical and genetic spectrum of neonatal arrhythmia in a NICU

Neonatal arrhythmia is a common complication that might be life-threatening or serious, but the genetic causes are unclear in most cases. The aim of this study is to investigate the genetic causes of neonatal arrhythmia in a NICU in China.

Newborns who were diagnosed with arrhythmia during the neonatal period were enrolled from Children's Hospital of Fudan University between January 1st 2016, and December 31st, 2019. A neonatal gene panel was performed for each infant.

In total, 98 neonatal infants with arrhythmia were enrolled. Fourteen genes and a copy number change were identified and classified as pathogenic/likely pathogenic in 22 patients (22.4%), including 4 genes related to syndrome, 4 related to conduction, 2 related to metabolism, 2 related to structure, 2 related to respiration and immunity, respectively, and trisomy 21. Altogether, 6 genes (6/14, 42.9%) caused original heart structure or conduction abnormalities, leading to arrhythmia. Infants with ventricular tachycardia or fibrillation, atrioventricular block and long-QT syndrome all had positive gene results. The gene positive rate among arrhythmic infants with congenital heart disease or severe heart failure was higher than that of infants without congenital heart disease or severe heart failure.

The genetic disorders associated with neonatal arrhythmia could be syndrome-, conduction-, metabolism-, and structure-related. Infants with non-benign arrhythmia, especially ventricular tachycardia or fibrillation, long-QT syndrome, or high-grade atrioventricular block, have a higher rate of genetic abnormalities and should undergo genetic sequencing. Neonates with hereditary arrhythmias may have a higher risk of congenital heart disease or heart failure.