Echocardiography is often required to establish the diagnosis.
Lutembacher's syndrome echocardiography
Cretinism echocardiography or ultrasound
Hunter syndrome physical examination
Cowden syndrome echocardiography and ultrasound
Paget-Schroetter disease echocardiography or ultrasound
Alagille syndrome physical examination
Cretinism physical examination
Down syndrome echocardiography or ultrasound