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Detection and management of cardiomyopathy in female dystrophinopathy carriers.

Abstract：

:Regular health checkups for mothers of patients with Duchenne muscular dystrophy have been performed at National Hospital Organization Tokushima Hospital since 1994. Among 43 mothers participated in this study, 28 dystrophinopathy carriers were identified. Skeletal and cardiac muscle functions of these subjects were examined. High serum creatine kinase was found in 23 subjects (82.1%). Obvious muscle weakness was present in 5 (17.8%) and had progressed from 1994 to 2015. Cardiomyopathy was observed in 15 subjects (60.0%), including dilated cardiomyopathy-like damage that was more common in the left ventricular (LV) posterior wall. Late gadolinium enhancement on cardiac MRI was found in 5 of 6 subjects, suggesting fibrotic cardiac muscle. In speckle tracking echocardiography performed seven years later, global longitudinal strain was decreased in these subjects, indicating LV myocardial contractile abnormality. These results suggest that female dystrophinopathy carriers should receive regular checkups for detection and treatment of cardiomyopathy, even if they have no cardiac symptoms.

journal_name

J Neurol Sci

journal_title

Journal of the neurological sciences

authors

Adachi K,Hashiguchi S,Saito M,Kashiwagi S,Miyazaki T,Kawai H,Yamada H,Iwase T,Akaike M,Takao S,Kobayashi M,Ishizaki M,Matsumura T,Mori-Yoshimura M,Kimura E

doi

10.1016/j.jns.2017.12.024

subject

Has Abstract

pub_date

2018-03-15 00:00:00

pages

74-80

eissn

0022-510X

issn

1878-5883

pii

S0022-510X(17)34515-X

journal_volume

386

pub_type

杂志文章

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