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Highlights
by W. Wertelecki, MD
December 1999
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Sudden Death - Anesthesia
Williams or Williams Beuren Syndrome (WS)
... also known as Elfin Face, Idiopathic Hypercalcemia Supravalvular Aortic Stenosis, 7q11.23 Microdeletion Syndrome
There is increasing evidence that children with WS are at risk of sudden death, in particular when subject to general anesthesia.
Survival of WS patients is dependent on early diagnosis but in many instances, WS is not recognized or is diagnosed with a considerable delay. Unawareness or late diagnosis is fraught with danger. Anticipatory care of arterial hypertension, arterial obstructions, renal dysfunction, and calcium homeostasis, particularly its impact on the myocardium, are of considerable importance.
Early Diagnosis
WS is not particularly rare (1/20,000) nor particularly hard to notice (table below). Early recognition of WS can be enhanced by prompt consultation with a Clinical Geneticist whenever:
- any of the clinical signs associated with WS are noted (table).
- a child is "dysmorphic" or suffers from developmental abnormalities, particularly if the pattern is of unknown nature or cause.
- a family history and chromosomal studies are "normal" and more clinical studies are planned.
(WS is most often due to a sporadic chromosomal microdeletion which is nearly impossible to detect by routine chromosomal studies.) Laboratory diagnosis of WS is best achieved by FISH applying DNA targeted on the elastin gene.
Sudden Death - Anesthesia
Sudden Death is a recognized complication of WS. Studies by L. M. Bird et al., suggest that coronary artery stenosis and severe biventricular outflow obstruction significantly contribute toward such events.
A study by J. Patel and M.J. Harrison (Anaesthesia 46: 115, 1991) calls attention to a WS patient who developed maseter spasm following halothane and suxamethonium-induced anesthesia. Notably, no malignant hyperthermia developed. On the other hand, Dr. I. Mammi et al. (Hum. Genet. 98: 317, 1998), studied a child with WS who developed malignant hyperthermia after general anesthesia.
Clinical Signs of Williams Syndrome
- Low birth weight
- Poor growth - Short stature
- Elfin like face
- Outgoing talkative personality
- Passion for music
- Mental development delay
- Small teeth with gaps between them
- Digital, nail, dermatoglyphic anomalies
- Supravalvular aortic stenosis
- Stenoses of muscular arteries
- Renal malformations and failure
- Renal artery stenosis
- Arterial hypertension
- Cardiac malformations
- Calcium homeostasis abnormalities
- Nephrocalcinosis, myocardial and other calcinosis
Relative Frequency of
Williams Syndrome in our Clinics
(based on 1211 Down Syndrome consecutive encounters) |
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Down Syndrome (index) |
100 |
| Osteogenesis Imperfecta |
1 |
| Williams Syndrome |
4 |
| Neurofibromatosis type 1 |
67 |
Williams Syndrome
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Genetics - Teratology - Epidemiology In Brief
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21/January/2002 dc
