Williams Syndrome Presenting with Pericardial Effusion and Left Ventricular Apical Aneurysm: A Case Report

Authors

Zachary Pang, MD, Thomas Jefferson University HospitalFollow
M. D. Kilpatrick, MD, Thomas Jefferson University HospitalFollow
Sairamya Bodempudi, MD, Thomas Jefferson University HospitalFollow
Darius Farzad, MD, Thomas Jefferson University HospitalFollow
Daniel L. Fischman, Thomas Jefferson University HospitalFollow
Gregary D. Marhefka, MD, Thomas Jefferson University HospitalFollow

Abstract

Williams syndrome (WS) is a genetic disorder caused by a gene deletion involving the protein elastin on chromosome 7q11.23. WS is associated with intellectual disability and characteristic facial features, including a short nose with a flat nasal bridge, medial eyebrow flare, and long philtrum.^1-2 WS is also associated with cardiovascular manifestations, most commonly supravalvular aortic stenosis. Patients with WS have an estimated risk of sudden cardiac death that is 25 to 100 times greater than the healthy age-matched population.³ This case highlights the importance of keeping acute coronary syndrome on one’s differential when caring for patients with Williams syndrome, regardless of prior cardiac history.

Recommended Citation

Pang, MD, Zachary; Kilpatrick, MD, M. D.; Bodempudi, MD, Sairamya; Farzad, MD, Darius; Fischman, Daniel L.; and Marhefka, MD, Gregary D. (2025) "Williams Syndrome Presenting with Pericardial Effusion and Left Ventricular Apical Aneurysm: A Case Report," The Medicine Forum: Vol. 26, Article 16.
Available at: https://jdc.jefferson.edu/tmf/vol26/iss1/16