1. Detection and management of cardiomyopathy in female dystrophinopathy carriers
- Author
-
Madoka Mori-Yoshimura, Setsuko Kashiwagi, Miho Saito, Tuyoshi Matsumura, Tatsushi Miyazaki, Hirotsugu Yamada, Masashi Akaike, En Kimura, Michio Kobayashi, Takashi Iwase, Shoichiro Takao, Katsuhito Adachi, Masatoshi Ishizaki, Shuji Hashiguchi, and Hisaomi Kawai
- Subjects
Adult ,medicine.medical_specialty ,Cardiomyopathy ,Duchenne muscular dystrophy ,Contrast Media ,Speckle tracking echocardiography ,Gadolinium ,Neuroimaging ,030204 cardiovascular system & hematology ,Late gadolinium enhancement ,Dystrophin ,03 medical and health sciences ,Female dystrophinopathy carrier ,Electrocardiography ,0302 clinical medicine ,Cardiac magnetic resonance imaging ,Internal medicine ,Natriuretic Peptide, Brain ,medicine ,Image Processing, Computer-Assisted ,Humans ,Muscle, Skeletal ,Creatine Kinase ,Retrospective Studies ,Neurologic Examination ,medicine.diagnostic_test ,business.industry ,Cardiac muscle ,Muscle weakness ,Disease Management ,Middle Aged ,medicine.disease ,medicine.anatomical_structure ,Neurology ,Mutation ,Cardiology ,Female ,Neurology (clinical) ,Abnormality ,medicine.symptom ,business ,Cardiomyopathies ,030217 neurology & neurosurgery - 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.
- Published
- 2017