Long QT syndrome in chromosome 7q35q36.3 deletion involving KCNH2 gene: Warning for chlorpheniramine prescription. Issue 9 (25th July 2019)

• Record Type: Journal Article
• 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
• Is Part Of: Molecular genetics & genomic medicine. Volume 7:Issue 9(2019)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2019-07-25
• Subjects: chlorpheniramine -- chromosome 7q35q36.3 deletion -- long QT syndrome -- syncope; Medical genetics -- Periodicals; Genomics -- Periodicals; 616.042
• DOI: 10.1002/mgg3.855
• Languages: English
• ISSNs: 2324-9269

Abstract

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. Abstract : We describe a 6‐year‐old child, affected by psychomotor delay and facial dysmorphisms, with a 12‐Mb deletion of the region 7q35q36.3, including PRKAG2, associated with hypertrophic cardiomyopathy, cardiac conduction disease, and sudden death, and KCNH2, coding for a cardiac potassium channel involved in long QT syndrome, unmasked by the chlorpheniramine treatment. Our report underlines potential cardiac complications linked to the common pharmacological treatment in this rare multiorgan and proteiform disease.