[MIM 620 025]

(DIH4 acronym for DIaphragmatic Hernia 4 with cardiovascular defects)

Very rare. Autosomal recessive transmission of a mutation of the ALDH1A2 gene (15q21.3) coding for aldehyde dehydrogenase 1 which is involved in an essential step in the synthesis of retinoic acid from vitamin A.

The main observed abnormalities are:

-        a diaphragmatic eventration or hernia with pulmonary hypoplasia of variable severity

-        a conotruncal anomaly of the heart: tetralogy of Fallot, aortopulmonary window

-        absence of thymus

-        a varus equinus-type clubfoot

-        sometimes: hypocalcemia, facial dysmorphism, distal limb anomaly

Anesthetic implications: 

echocardiography; management of a diaphragmatic hernia (see this term); chronic respiratory failure

References:

-        Leon E, Nde C, Ray RS, Preciado D, Zohn IE.
ALDH1A2-related disorder: A new genetic syndrome due to alteration of the retinoic acid pathway.
Am J Med Genet A. 2023 ; 191: 90–9. doi:10.1002/ajmg.a.62991

Updated: May 2023