Long QT syndrome and life threatening arrhythmia in a newborn: molecular diagnosis and treatment response

Intrauterine and neonatal manifestations of congenital long QT syndrome are associated with a high cardiac risk, particularly when atrioventricular block and excessive QT prolongation (> 600 ms1/2) are present. In a female newborn with these features, treatment with propranolol and mexiletine led...

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Bibliographic Details
Published in:British heart journal 2004-01, Vol.90 (1), p.13-16
Main Authors: Schulze-Bahr, E, Fenge, H, Etzrodt, D, Haverkamp, W, Mönnig, G, Wedekind, H, Breithardt, G, Kehl, H-G
Format: Article
Language:English
Subjects:
atrioventricular
Biological and medical sciences
Cardiac arrhythmia
Cardiac dysrhythmias
Cardiology. Vascular system
Congenital diseases
Electrocardiography
Female
Genotype
genotyping
Heart
Humans
Infant, Newborn
Long QT syndrome
Long QT Syndrome - congenital
Long QT Syndrome - diagnosis
Long QT Syndrome - therapy
LQT3
LQTS
Medical sciences
mexiletine
Mutation
Mutation - genetics
newborn
Newborn babies
Parents & parenting
Pedigree
Phenotype
propranolol
SIDS
Sinuses
sodium channel gene
sudden infant death syndrome
Treatment Outcome
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Summary:Intrauterine and neonatal manifestations of congenital long QT syndrome are associated with a high cardiac risk, particularly when atrioventricular block and excessive QT prolongation (> 600 ms1/2) are present. In a female newborn with these features, treatment with propranolol and mexiletine led to complete reduction of arrhythmia that was maintained 1.5 years later. High throughput genetic analysis found a sodium channel gene (LQT3) mutation. Disappearance of the 2:1 atrioventricular block and QTc shortening (from 740 ms1/2 to 480 ms1/2), however, was achieved when mexiletine was added to propranolol. This effect was considered to be possibly genotype related. Early onset forms of long QT syndrome may benefit from advanced genotyping.
ISSN:1355-6037
0007-0769
1468-201X
DOI:10.1136/heart.90.1.13