What is the name of the syndrome associated with body jerks and aortic stenosis in patients with a history of cardiovascular disease, including hypertension, high cholesterol, and coronary artery disease?

Williams Syndrome

The syndrome associated with body jerks and aortic stenosis is Williams syndrome, which presents with supravalvular aortic stenosis along with characteristic neurodevelopmental features including cognitive and behavioral disorders. 1

Key Clinical Features

Williams syndrome is an autosomal dominant disorder caused by an elastin gene mutation on chromosome 7q11.23 that manifests with a distinctive constellation of findings: 1, 2

• Cardiovascular manifestations:

  • Supravalvular aortic stenosis (most common cardiac finding) 1
  • Hypoplasia of the entire aorta 1
  • Renal artery stenosis 1
  • Stenoses of other major aortic branches 1
  • Long-segment peripheral pulmonary artery stenosis 1
  • Coronary artery ostial stenosis (increases risk of sudden cardiac death) 2

• Characteristic physical features:

  • Abnormal "elfin" facies 1
  • Short stature 1

• Neurological/behavioral features:

  • Cognitive disorders 1
  • Behavioral disorders (the "body jerks" referenced in the question likely relate to these neurodevelopmental manifestations) 1
  • Joint abnormalities 1

Critical Clinical Implications

The presence of supravalvular aortic stenosis in Williams syndrome creates unique hemodynamic challenges because the coronary artery origins are proximal to the obstruction, subjecting them to high systolic pressure and limited diastolic flow. 1 This anatomic arrangement significantly increases the risk of:

• Myocardial ischemia despite patent coronary arteries 1
• Sudden cardiac death 2, 3
• Anesthesia complications 2

Essential Diagnostic Workup

For any patient with suspected Williams syndrome and supravalvular aortic stenosis, the following assessments are mandatory: 1

• TTE and/or TEE with Doppler plus either MRI or CT to evaluate:

  • LVOT anatomy 1
  • Ascending aorta anatomy 1
  • Coronary artery anatomy and flow patterns 1
  • Main and branch pulmonary artery anatomy 1

• Renal artery assessment (due to high association with renal artery stenosis) 1

• Ventricular function assessment (systolic and diastolic) 1

• Periodic screening for myocardial ischemia using exercise testing, dobutamine stress testing, PET, or stress sestamibi with adenosine 1

Important Clinical Pitfalls

Patients with Williams syndrome may have limited cognitive function or physical capacity that prevents maximal stress testing, requiring pharmacologic stress imaging (adenosine or dobutamine) instead of exercise-based protocols. 1 This is a critical consideration when evaluating for myocardial ischemia in this population.

The combination of coronary ostial involvement and cognitive limitations makes anesthesia particularly high-risk in these patients, requiring specialized perioperative management. 2