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Updated: Mar 16, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
A multidisciplinary approach to prenatal treatment of congenital long QT syndrome
Sarah Crimmins1, Sudhir Vashit2, Lauren Doyle1
1Fetal Heart Program, Center for Advanced Fetal Care, Department of Obstetrics, Gynecology, and Reproductive Sciences, University of Maryland School of Medicine, Sixth Floor, Room 6NE11, 22 South Greene Street, Baltimore, MD, 21201.
Abstract:
A 27-week fetus evaluated for bradycardia and hydrops was found to have anti-SSA-negative 2° atrioventricular block and ventricular tachycardia. A presumptive diagnosis of fetal long QT syndrome was made. Transplacental pharmacotherapy with intravenous magnesium and lidocaine restored sinus rhythm. At 30 6/7 weeks, the infant was delivered due to premature labor. Despite postnatal treatment with mexiletine and propranolol, she developed torsades de pointes. Ultimately, a de novo KCNH2 G628S mutation was diagnosed. She received an implantable cardiac defibrillator at 5 months of age. Early diagnosis and a multidisciplinary approach allowed successful in utero treatment and anticipatory postnatal management. © 2016 Wiley Periodicals, Inc. J Clin Ultrasound 45:168-170, 2017.
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