Long QT Syndrome in Chromosome 7q35q36.3 Deletion Involving KCNH2 Gene: Warning for Chlorpheniramine Prescription

Overview

Journal Mol Genet Genomic Med

Specialty Genetics

Date 2019 Jul 27

PMID 31347270

Citations 3

Authors

Giuseppe Di Stolfo

Maria Accadia

Sandra Mastroianno

Maria P Leone

Orazio Palumbo

Pietro Palumbo

Domenico Potenza

Pasquale Maccarone

Michele Sacco

Aldo Russo

Massimo Carella

Affiliations

Soon will be listed here.

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.

Citing Articles

When Paying Attention Pays Back: Missense Mutation c.1006G>A p. (Val336Ile) in Gene Causing Left Ventricular Hypertrophy and Conduction Abnormalities in a Caucasian Patient: Case Report and Literature Review.

Micaglio E, Tondi L, Benedetti S, Schiavo M, Camporeale A, Disabato G Int J Mol Sci. 2024; 25(17).

PMID: 39273120 PMC: 11395525. DOI: 10.3390/ijms25179171.

Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C.

Tosca L, Drevillon L, Mouka A, Lecerf L, Briand A, Ortonne V Mol Genet Genomic Med. 2021; 9(11):e1645.

PMID: 34582124 PMC: 8606216. DOI: 10.1002/mgg3.1645.

Long QT syndrome in chromosome 7q35q36.3 deletion involving KCNH2 gene: Warning for chlorpheniramine prescription.

Di Stolfo G, Accadia M, Mastroianno S, Leone M, Palumbo O, Palumbo P Mol Genet Genomic Med. 2019; 7(9):e855.

PMID: 31347270 PMC: 6732270. DOI: 10.1002/mgg3.855.

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