MIM 142 900]

(Atrio-digital dysplasia type 1, cardiomelic syndrome type 1,  heart-hand syndrome type 1)

Prevalence estimated at 1/100,000. Autosomal  dominant transmission with full penetrance of the TBX3 and TBX5 genes (locus 12q2). It associates a cardiopathy with anomalies of the radial ray of the skeleton of the upper limbs

Association of:

-         congenital heart disease of varying severity (ASD, VSD, Fallot) often with conduction disturbances (bundle branch block, AVB, Wolff-Parkinson-White) due to abnormalities of K channels or of protein-kinase Ca- and calmodulin-dependent channels; 

-         uni - or bilateral skeletal abnormalities of the upper limbs (especially thumb hypoplasia). 

-         sometimes: absence of the radial artery, persistent left superior vena cava.

Anesthetic implications: 

check the cardiac echography and ECG. Difficult venous access (hypoplasia of the venous system): echoguided puncture of large vessels. Risk of cardiac complications.

A case of malignant hyperthermia-like reaction has been reported during cardiac bypass in an infant.

References : 

-        Shono S, Higa K, Kumano K, Dan K. 
Holt-Oram syndrome. 
Br J Anaesth 1998; 80:856-7

-        Mori AD, Bruneau BG. 
TBX5 mutations and congenital heart disease: Holt-Oram syndrome revealed. 
Curr Opin Cardiol 2004; 19:211-5.

-        Franklin AD, Lorinc AN, Donahue BS. 
Malignant hyperthermia-like manifestations in a two-month-old child with Olt-Oram syndrome undergoing cardiac surgery. 
J Cardiothor Vasc Anesth 2014; 28: 1326-7.

Updated: March  2019