Rhizomelic chondrodysplasia punctata and cardiac pathology

Rhizomelic Chondrodysplasia Punctata (RCDP) is a rare genetic disorder associated with symmetrical shortening of the upper arms and legs, contractures, cataracts and developmenatal delay. The levels of plasmalogens (major constituents of cellular membranes) are low. Although high levels of plasmalogens are normally found in the heart, heart abnormalities have not previously been strongly associated with RCDP.  We found cardiac defects in 12/18(52%) RCDP patients, which is much higher than among the normal population. All 12 had type 1 RCDP, 11(92%) had the PEX 7:c.875T>A mutation and their plasmalogen levels were very low. The cardiac lesions included holes in the heart, persistent ductus arteriosus, underdeveloped lung arteries, Tetrology of Fallot and valve abnormalities. Routine cardiac evaluation in the management of RCDP patients is thus advisable.  (By Drs. Sally-Ann Clur and Irene Huffnagel, http://jmg.bmj.com/content/early/2013/04/08/jmedgenet-2013-101536 )