Intraoperative management of Williams Syndrome
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Genetic syndrome with associated cardiac abnormalities (namely supravalvar aortic stenosis, pulmonary arterial stenosis, coronary abnormalities), psychomotor retardation, facial dysmorphism. Risk of sudden death 25-100x than general population; many deaths associated with anesthesia/sedation (50% of which associated with cardiac catheterization cases).
Anesthetic implications
Preoperative optimization
Labs: hypercalcemia common in young patients, hyperglycemia common in older patients; thyroid function tests; renal function
Cardiac evaluation: four extremity blood pressures; assess for carotid or abdominal bruits; ECG to assess for arrhythmias, QTc prolongation, or ventricular hypertrophy; echocardiography to assess structural issues (more details below); consider cardiac catheterization
Minimize NPO time. May require pre-op anxiolysis prior to procedures (additionally to help optimize hemodynamics).
Intraoperative management
Consider more challenging airway due to craniofacial abnormalities such as micrognathia, mandibular hypoplasia, teeth malocclusion (although some sources indicate no particularly associated difficulty with airway management)
Mostly concerned with uncorrected cardiac abnormalities, namely supravalvar aortic stenosis and pulmonary artery stenosis.
IV induction preferred over inhalational induction. For high-risk patients and procedures, consider invasive blood pressure monitoring. Minimize tachycardia and hypotension. Maintain adequate preload. Maintain NSR, SVR, and avoid increases in pulmonary vascular resistance. Critical for aggressive early cardiac resuscitation. If needed, consider ECMO on sooner side.
Factor in musculoskeletal abnormalities with choice of NMBs.
Postoperative management
Continuous pulse-ox and telemetry. Usually require longer post-op monitoring.
Related surgical procedures
May have had cardiothoracic surgical repairs, or prior cardiac catheterizations and associated procedures.
Pathophysiology
Genetic: microdeletion of 26-28 genes (1.5 megabases) at chromosome 7q11.23, elastin deficiency.
Supravalvar aortic stenosis in up to 70% of patients, mainly as narrowing located at sinotubular junction. In addition to affecting aortic valve, this can also limit coronary perfusion.
Pulmonary artery stenosis affecting 40-75% of patients, often in branch or peripheral pulmonary arteries. Peripheral pulmonary stenosis tends to improve over time, although in some patients this does not occur. (Hanley)
Coronary artery abnormalities 5-9% of patients, and up to 45% with concurrent supravalvar aortic stenosis.
Associated Kounis syndrome (coronary dysfunction)
Bicuspid aortic valve (present in 5-12% of patient with WS, 25-39% of patients with supravalvar aortic stenosis)
VSD in 4-21%, mitral valve prolapse in 9-27%
Hypertension in 50%
Additionally thoracic aorta stenosis and renal artery stenosis
50% with hypercalcemia (younger patients)
15-30% subclinical hypothyroidism (usually asymptomatic)
Up to 75% glucose intolerance/diabetes (especially in older patients)
Signs and symptoms
Usually noticed by characteristic facial features “elfin facies”, in combination with cardiac abnormalities
Common facial features: full faces with heavy cheeks, wide mouths with full lips, broad foreheads, pointed chins, short nose with bulbous tip, mandibular hypoplasia (possible malocclusion)
May have musculoskeletal involvement such as contractures or muscle weakness.
Diagnosis
Genetic testing
ECG findings: QTc prolongation 15%; LVH 40%, RVH 60%
Treatment
Medication
Surgery
May require pulmonary artery reconstruction if persistent pulmonary artery disease causing RV hypertension, RV hypertrophy, or systolic ventricular septal flattening.
Prognosis
Study of 108 patients undergoing anesthesia, perioperative mortality of 0.9%, cardiac arrest at rate of 1.85%; rate of all cardiac complications of 11.1%, with most common being bradycardia or hypotension.
Another study with 75 patients (who underwent 202 anesthetics), cardiovascular-free complication rate was 96.8% for non-cardiac surgery vs. 85.7% for patients undergoing cardiac procedures.
Epidemiology
1/8,000 live births
References
Staudt GE, Eagle SS. Anesthetic Considerations for Patients With Williams Syndrome. J Cardiothorac Vasc Anesth. 2021 Jan;35(1):176-186. doi: 10.1053/j.jvca.2020.01.022. Epub 2020 Jan 21. PMID: 32127269.
Olsen M, Fahy CJ, Costi DA, Kelly AJ, Burgoyne LL. Anaesthesia-related haemodynamic complications in Williams syndrome patients: a review of one institution's experience. Anaesth Intensive Care. 2014 Sep;42(5):619-24. doi: 10.1177/0310057X1404200512. PMID: 25233176.
Collins RT 2nd, Mainwaring RD, MacMillen KL, Hanley FL. Outcomes of Pulmonary Artery Reconstruction in Williams Syndrome. Ann Thorac Surg. 2019 Jul;108(1):146-153. doi: 10.1016/j.athoracsur.2019.02.013. Epub 2019 Mar 15. PMID: 30885853.
Brown ML, Nasr VG, Toohey R, DiNardo JA. Williams Syndrome and Anesthesia for Non-cardiac Surgery: High Risk Can Be Mitigated with Appropriate Planning. Pediatr Cardiol. 2018 Aug;39(6):1123-1128. doi: 10.1007/s00246-018-1864-1. Epub 2018 Mar 23. PMID: 29572733.
Kounis NG, Tsigkas G, Almpanis G, Mazarakis A, Kounis GN. Kounis syndrome--the killer for Williams syndrome? Ann Card Anaesth. 2010 Sep-Dec;13(3):265-6. doi: 10.4103/0971-9784.69065. PMID: 20826975.