-autosomal dominant

-3 features from the ff needed for definitive clinical diagnosis:

1. Nosebleeds

2. Cutaneous telangiectasia- especially perioral

3. Internal lesions- arteriovenous malformations:

o Pulmonary- most common

o Hepatic

o Cerebral

o Spinal

4. Family history

-screening test:

o bubble contrast echocardiograms (usually done in teens- inject shaken syringe of saline in venous system; bubbles present on left side of heart on echocardiography). +ve test means pulmonary AVM present, but doesn’t give idea of severity (i.e. how big AVM is)

o lying and standing O2 sats- poor test. Done in children before teen age.

-CT angiogram is confirmatory test. Done if bubble contrast echo +ve

-Rx: embolization: done by interventional radiologist. Catheter with a balloon is passed through femoral venous? circulation to access AVM. Balloon is blown into AVM to block it off.

	Criado por v.djabatey quase 11 anos atrás

Paediatrics (Cardio) Notas sobre Hereditary Haemogenous Telangiectasia, criado por v.djabatey em 06-01-2014.