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- Title
Long QT syndrome in chromosome 7q35q36.3 deletion involving KCNH2 gene: Warning for chlorpheniramine prescription.
- Authors
Di Stolfo, Giuseppe; Accadia, Maria; Mastroianno, Sandra; Leone, Maria P.; Palumbo, Orazio; Palumbo, Pietro; Potenza, Domenico; Maccarone, Pasquale; Sacco, Michele; Russo, Aldo; Carella, Massimo
- 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.
- Subjects
LONG QT syndrome; CHROMOSOMES; POTASSIUM channels; HYPERTROPHIC cardiomyopathy; SUDDEN death; MEDICAL prescriptions
- Publication
Molecular Genetics & Genomic Medicine, 2019, Vol 7, Issue 9, pN.PAG
- ISSN
2324-9269
- Publication type
Article
- DOI
10.1002/mgg3.855