Abstract
Muscular dystrophies are a heterogeneous group of inherited disorders that share similar clinical features and dystrophic changes on muscle biopsy, associated with progressive weakness. Weakness may be noted at birth or develop in late adult life. In recent years, cardiac involvement has been observed in a growing number of genetic muscle diseases, and considerable progress has been made in understanding the relationships between disease skeletal muscle and cardiac muscle disease. This review will focus on the skeletal muscle diseases most commonly associated with cardiac complications that can be diagnosed by echocardiography, such as dystrophinopathies including Duchenne (DMD) and Becker (BMD) muscular dystrophies, cardiomyopathy of DMD/BMD carriers and X-L dilated cardiomyopathy.
Highlights
Cardiac involvement has been observed in a grown ing number of genetic muscle diseases, and o considerable progress has been made in understanding the relationships between dise ease skeletal muscle and cardiac muscle diss ease
This review will focus on the skeletal muscle diseases most commonly associated u with cardiac complications that can be diagl nosed by echocardiography, such as dysia trophinopathies including Duchenne (DMD)
This review will focus on the skeletal muscle diseases most commonly associated with cardiac complications that can be diagnosed by echocardiography, such as dystrophin-associated diseases or dystrophinopathies that include Duchenne (DMD) and Becker (BMD) muscular dystrophies, cardiomyopathy of DMD/BMD carriers and X-L dilated cardiomyopathy
Summary
The diagnosis of dystrophinopathic cardiomyopathy relies on clinical and instrumental investigation. ECG signs include a classic tall right precordial R wave, a S/R ratio >1, a PQ segment abnormally brief for the patient’s age, a prolonged QT interval (after correction according to the heart rate), and a cardiomyopathic index >4.6 (Figure 4).[21,28] Echocardiography can reveal areas of regional dyskinesia and fibrosis that can be detected by integrated back scattering (IBS) or echo-acoustic densitometry. Echo and/or radionuclide investigation may show areas of dyskinesia or akinesia caused by fibrosis In these patients, frequent Holter monitoring will detect the onset. Electrocar diographic findings like short PQ and prolonged QT intervals on ECG, such as a picture of dilated cardiomyopathy of unknown origin in young women, should suggest a diagnosis of dystrophinopathic cardiomyopathy, especially when combined with the typical clinical presentation. The prognostic significance of these findings warrants further longitudinal follow-up.[44]
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