Table 1 Recommended initial evaluation, follow up, and referrals in individuals with Cantu Syndrome

Cardiovascular

Baseline echocardiogram to evaluate for cardiomyopathy, PDA, MAPCAs, pericardial effusion, dilated aortic root, pulmonary hypertension and structural heart defects

• Annual surveillance echocardiogram

• More frequent echocardiograms at the discretion of the cardiologist depending on the findings of the initial cardiac evaluation

Referral to cardiologist at the time of diagnosis

Consider whole body imaging including MRI/MRA of the chest, abdomen and pelvis to evaluate for dilated vasculature

• Surveillance MRI/MRA every 3–5 years if initial imaging is normal

• More frequent MRI/MRA at the discretion of the specialist if imaging reveals dilated and/or tortuous vasculature

Consider referral to vascular surgery as dictated by findings on imaging

Neurovascular

Consider neuroimaging including brain MRI with MRA/MRV in the setting of headaches and/or neurologic findings to evaluate for

dilated/tortuous cerebral vasculature or other abnormalities

Frequency of brain MRI with MRA/MRV should be dictated by the specialist if initial imaging is abnormal or neurologic findings emerge

Referral to neurologist if neuroimaging is abnormal or neurologic manifestations including headaches are present

Microvascular abnormalities

Evaluation by an ophthalmologist to screen for dilated/tortuous retinal vessels and other abnormalities

Annual eye exam

Referral to ophthalmologist at the time of diagnosis

Lymphatic

Physical exam with particular attention to lymphedema

Annual physical exam

Consider referral to lymphedema clinic