Life-Threatening Arrhythmia in Ebstein’s Anomaly: A Rare Cardiovascular Presentation of Williams Syndrome – A Case Study - Takeaways - MDSpire

Life-Threatening Arrhythmia in Ebstein’s Anomaly: A Rare Cardiovascular Presentation of Williams Syndrome – A Case Study

  • By

  • M. E. Schouw

  • T. T. Koopmann

  • N. A. Blom

  • J. L. Stöger

  • D. Q. C. M. Barge-Schaapveld

  • R. Bökenkamp

  • March 2, 2026

  • 0 min

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  • 1

    Williams syndrome is a rare multisystem disorder affecting 1 in 7,500 individuals, primarily caused by a 7q11.23 microdeletion.

  • 2

    Ebstein's anomaly is a rare congenital heart defect, occurring in 0.3-0.6% of congenital heart defects, with few reported cases in patients with Williams syndrome.

  • 3

    The case study describes an 11-year-old with both Williams syndrome and Ebstein's anomaly who experienced out-of-hospital cardiac arrest due to ventricular arrhythmias.

  • 4

    Electrophysiological studies revealed that ventricular arrhythmias originated from fibrosed areas of the Purkinje system, complicating the patient's condition.

  • 5

    The patient's ventricular arrhythmias were managed with oral beta-blockers and a submuscular implantable cardioverter-defibrillator was implanted for further protection.

Original Source(s)

Life-Threatening Arrhythmia in Ebstein’s Anomaly: A Rare Cardiovascular Presentation of Williams Syndrome – A Case Study

  • by M. E. Schouw, T. T. Koopmann, N. A. Blom, J. L. Stöger, D. Q. C. M. Barge-Schaapveld, R. Bökenkamp

  • March 2, 2026

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