Literature DB >> 16802747

[Neonatal hypocalcaemic dilated myocardiopathy due to a 22q11 microdeletion].

M Goulet1, M Rio, A Jacquette, M Ladouceur, D Bonnet.   

Abstract

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.

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Year:  2006        PMID: 16802747

Source DB:  PubMed          Journal:  Arch Mal Coeur Vaiss        ISSN: 0003-9683


  2 in total

Review 1.  Hypocalcemic rachitic cardiomyopathy in infants.

Authors:  Abdelwahab T H Elidrissy; Medinah Munawarah; Khalid M Alharbi
Journal:  J Saudi Heart Assoc       Date:  2012-12-04

2.  Gene expression profiling in the developing secondary palate in the absence of Tbx1 function.

Authors:  Maria Zoupa; Guilherme Machado Xavier; Stephanie Bryan; Ioannis Theologidis; Matthew Arno; Martyn T Cobourne
Journal:  BMC Genomics       Date:  2018-06-04       Impact factor: 3.969

  2 in total

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