TY - JOUR
T1 - Long QT syndrome in chromosome 7q35q36.3 deletion involving KCNH2 gene
T2 - Warning for chlorpheniramine prescription
AU - Di Stolfo, Giuseppe
AU - Accadia, Maria
AU - Mastroianno, Sandra
AU - Leone, Maria P.
AU - Palumbo, Orazio
AU - Palumbo, Pietro
AU - Potenza, Domenico
AU - Maccarone, Pasquale
AU - Sacco, Michele
AU - Russo, Aldo
AU - Carella, Massimo
PY - 2019/9/1
Y1 - 2019/9/1
N2 - 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.
AB - 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.
KW - chlorpheniramine
KW - chromosome 7q35q36.3 deletion
KW - long QT syndrome
KW - syncope
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U2 - 10.1002/mgg3.855
DO - 10.1002/mgg3.855
M3 - Article
C2 - 31347270
AN - SCOPUS:85071898974
SN - 2324-9269
VL - 7
JO - Molecular genetics & genomic medicine
JF - Molecular genetics & genomic medicine
IS - 9
M1 - e855
ER -