Molecular genetics & genomic medicine · 2019
Long QT syndrome in chromosome 7q35q36.3 deletion involving KCNH2 gene: Warning for chlorpheniramine prescription.
Клинический случайСтатьяНазвание и аннотация: Перевод пока не подготовлен
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Di Stolfo Giuseppe, Accadia Maria, Mastroianno Sandra, Leone Maria P, Palumbo Orazio, Palumbo Pietro, Potenza Domenico, Maccarone Pasquale, Sacco Michele, Russo Aldo, Carella Massimo
Аннотация
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.
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.