[Neonatal hypocalcaemic dilated myocardiopathy due to a 22q11 microdeletion].
Here we report 2 cases of hypocalcemic cardiomyopathy revealing a 22q11 microdeletion syndrome. This presentation at diagnosis is rare as the cardiac phenotype is mainly made of conotruncal congenital heart defects in this condition. Cardiac failure was diagnosed during the neonatal period in the 2 cases and was associated with profound hypocalcemia. As usual, treatment with calcium and vitamin D led to the regression of the hypocalcemia and the left ventricular function was fully restored. While this circumstances are unusual, we recommend that screening for 22q11 deletion should be performed when confronted to hypocalcemic cardiomyopathy or left ventricular systolic dysfunction in conotruncal defects in neonates.
Goulet
M
M
Service cardiolo- gie pédiatrique, hôpital Necker-Enfants malades, Paris.
Rio
M
M
Jacquette
A
A
Ladouceur
M
M
Bonnet
D
D
D002118:Calcium / Q000627:therapeutic use; D002311:Cardiomyopathy, Dilated / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000235:genetics*; D004359:Drug Therapy, Combination; D004452:Echocardiography; D004562:Electrocardiography; D006801:Humans; D006996:Hypocalcemia / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology*; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D014807:Vitamin D / Q000627:therapeutic use
D014807:Vitamin D; D002118:Calcium