Heart and vascular problems

Congenital heart defects (especially supravalvular aortic stenosis (SVAS) and peripheral pulmonary arterystenosis). Cardiovascular assessment including BP (blood pressure) measurement in both upper limbs (4 - limb in infants), oxygen saturation pre and post ductally, ECG and Echocardiography. (Chest x-ray may also be indicated.)

Baby (Age: 0-1) If the diagnosis is made in the neonatal period, a cardiac assessment should be carried out and referral made to a paediatric cardiologist for echocardiography. Where the diagnosis is made later in infancy, referral to a paediatric cardiologist should be made within 3 months. At least annual cardiac examination by a paediatric cardiologist should be carried out until 4 years of age. NB. The presence of SVAS or PPAS may be diagnosed in infancy when developmental delay or the typical facial appearance is not recognised. In all such cases the paediatric cardiologist should request a genetic opinion or arrange appropriate genetic testing.

Childhood (Age: 2-11) Annual cardiac examination until 4 years of age. Thereafter complete cardiac assessment, including echocardiography, at least every 5 years.

Baby (Age: 0-1) Hypertension. Monitoring blood pressure annually in 4 limbs. Hypertension is defined as the average systolic BP and/or diastolic BP greater than or equal to the 95th centile for gender, age and height on > 3 occasions. If associated with renovascular disease (RVD), refer to nephrologist. Intervention for the management of hypertension secondary to RVD with either percutaneous transluminal angioplasty and/or surgical vascular reconstruction is not recommended for the initial management of hypertension. Medical management of hypertension under the supervision of a nephrologist is recommended.

Childhood (Age: 2-11)

Hypertension screening

Monitor blood pressure annually in both arms. Hypertension is defined as the average systolic BP and/or diastolic BP greater than or equal to the 95th centile for gender, age and height on > 3 occasions. If associated with renovascular disease (RVD), refer to nephrologist. Intervention for the management of hypertension secondary to RVD with either percutaneous transluminal angioplasty and/or surgical vascular reconstruction is not recommended for the initial management of hypertension. Medical management of hypertension under the supervision of a nephrologist is recommended.

During puberty Cardiac screening, Cardiac assessment including scans at least every 5 years. Appropriate follow up if symptomatic.

(young) AdultAging adult Cardiac screening Assessment including scans, every 5 years throughout life. Adults with Williams Syndrome should be referred to their regional Adult Congenital Cardiology Service for routine follow up.