Long QT syndrome in chromosome 7q35q36.3 deletion involving KCNH2 gene: Warning for chlorpheniramine prescription.
Mol Genet Genomic Med
; 7(9): e855, 2019 09.
Article
em En
| MEDLINE
| ID: mdl-31347270
ABSTRACT
BACKGROUND:
The deletion of the distal 7q region is a rare chromosomal syndrome characterized by wide phenotypic manifestations including growth and psychomotor delay, facial dysmorphisms, and genitourinary malformations.METHODS:
We describe a 6-year-old child with a 12-Mb deletion of the region 7q35q36.3.RESULTS:
Among the deleted genes, two genes have cardiac implications PRKAG2 (OMIM #602743), associated with hypertrophic cardiomyopathy, cardiac conduction disease, and sudden death, and KCNH2 (OMIM #152427), coding for a cardiac potassium channel involved in long QT syndrome, unmasked by the chlorpheniramine treatment. At same time, the SHH gene (OMIM #600725), encoding sonic hedgehog, a secreted protein that is involved in the embryonic development, is deleted.CONCLUSION:
Our report underlines potential cardiac complications linked to the common pharmacological treatment in this rare multiorgan and proteiform disease.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 7
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Síndrome do QT Longo
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Deleção Cromossômica
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Canal de Potássio ERG1
Tipo de estudo:
Diagnostic_studies
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Prognostic_studies
Limite:
Child
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Humans
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Male
Idioma:
En
Revista:
Mol Genet Genomic Med
Ano de publicação:
2019
Tipo de documento:
Article
País de afiliação:
Itália