X-linked dilated cardiomyopathy with a large hot-spot deletion in the dystrophin gene.
A 36-year-old Japanese man was hospitalized with coughing and exertional dyspnea (NYHA class I). He was diagnosed as having congestive heart failure, and was treated with diuretics and a beta-adrenergic blocking agent. He responded well to the treatment and his symptoms completely disappeared within a few days. Based on his clinical, laboratory, and molecular genetic findings, he was diagnosed as having X-linked dilated cardiomyopathy (XLDCM). He was found to have a large deletion in the dystrophin gene, involving exons 45-55. This is the first report on a Japanese XLDCM patient with a mutation in the central hot-spot region of this gene.
Tasaki
N
N
Department of Interna Medicine, Fukuyama Cardiovascular Hospital, Hiroshima.
Yoshida
K
K
Haruta
S I
SI
Kouno
H
H
Ichinose
H
H
Fujimoto
Y
Y
Urasawa
N
N
Kawakami
T
T
Taniguchi
M
M
Kurushima
S
S
Shimakura
T
T
D000328:Adult; D002311:Cardiomyopathy, Dilated / Q000175:diagnosis* / Q000235:genetics*; D003937:Diagnosis, Differential; D016189:Dystrophin / Q000235:genetics*; D004562:Electrocardiography; D017353:Gene Deletion; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D008297:Male; D010375:Pedigree; D016133:Polymerase Chain Reaction; D014960:X Chromosome / Q000235:genetics*
D016189:Dystrophin