Abstract
Hereditary muscular diseases commonly involve the heart. Cardiac manifestations encompass a spectrum of phenotypes, including both cardiomyopathies and rhythm disorders. Common biomarkers suggesting cardiomuscular diseases include increased circulating creatine kinase and/or lactic acid levels or disease-specific metabolic indicators. Cardiac and extra-cardiac traits, imaging tests, family studies, and genetic testing provide precise diagnoses. Cardiac phenotypes are mainly dilated and hypokinetic in dystrophinopathies, Emery-Dreifuss muscular dystrophies, and limb girdle muscular dystrophies; hypertrophic in Friedreich ataxia, mitochondrial diseases, glycogen storage diseases, and fatty acid oxidation disorders; and restrictive in myofibrillar myopathies. Left ventricular noncompaction is variably associated with the different myopathies. Conduction defects and arrhythmias constitute a major phenotype in myotonic dystrophies and skeletal muscle channelopathies. Although the actual cardiac management is rarely based on the cause, the cardiac phenotypes need precise characterization because they are often the only or the predominant manifestations and the prognostic determinants of many hereditary muscle disorders.
| Original language | English |
|---|---|
| Pages (from-to) | 2485-2506 |
| Number of pages | 22 |
| Journal | Journal of the American College of Cardiology |
| Volume | 72 |
| Issue number | 20 |
| DOIs | |
| Publication status | Published - Nov 13 2018 |
Fingerprint
Keywords
- arrhythmias
- cardiomyopathies
- dystrophy
- myopathy
- skeletal muscle
ASJC Scopus subject areas
- Cardiology and Cardiovascular Medicine
Cite this
Cardiac Phenotypes in Hereditary Muscle Disorders : JACC State-of-the-Art Review. / Arbustini, Eloisa; Di Toro, Alessandro; Giuliani, Lorenzo; Favalli, Valentina; Narula, Nupoor; Grasso, Maurizia.
In: Journal of the American College of Cardiology, Vol. 72, No. 20, 13.11.2018, p. 2485-2506.Research output: Contribution to journal › Review article
}
TY - JOUR
T1 - Cardiac Phenotypes in Hereditary Muscle Disorders
T2 - JACC State-of-the-Art Review
AU - Arbustini, Eloisa
AU - Di Toro, Alessandro
AU - Giuliani, Lorenzo
AU - Favalli, Valentina
AU - Narula, Nupoor
AU - Grasso, Maurizia
PY - 2018/11/13
Y1 - 2018/11/13
N2 - Hereditary muscular diseases commonly involve the heart. Cardiac manifestations encompass a spectrum of phenotypes, including both cardiomyopathies and rhythm disorders. Common biomarkers suggesting cardiomuscular diseases include increased circulating creatine kinase and/or lactic acid levels or disease-specific metabolic indicators. Cardiac and extra-cardiac traits, imaging tests, family studies, and genetic testing provide precise diagnoses. Cardiac phenotypes are mainly dilated and hypokinetic in dystrophinopathies, Emery-Dreifuss muscular dystrophies, and limb girdle muscular dystrophies; hypertrophic in Friedreich ataxia, mitochondrial diseases, glycogen storage diseases, and fatty acid oxidation disorders; and restrictive in myofibrillar myopathies. Left ventricular noncompaction is variably associated with the different myopathies. Conduction defects and arrhythmias constitute a major phenotype in myotonic dystrophies and skeletal muscle channelopathies. Although the actual cardiac management is rarely based on the cause, the cardiac phenotypes need precise characterization because they are often the only or the predominant manifestations and the prognostic determinants of many hereditary muscle disorders.
AB - Hereditary muscular diseases commonly involve the heart. Cardiac manifestations encompass a spectrum of phenotypes, including both cardiomyopathies and rhythm disorders. Common biomarkers suggesting cardiomuscular diseases include increased circulating creatine kinase and/or lactic acid levels or disease-specific metabolic indicators. Cardiac and extra-cardiac traits, imaging tests, family studies, and genetic testing provide precise diagnoses. Cardiac phenotypes are mainly dilated and hypokinetic in dystrophinopathies, Emery-Dreifuss muscular dystrophies, and limb girdle muscular dystrophies; hypertrophic in Friedreich ataxia, mitochondrial diseases, glycogen storage diseases, and fatty acid oxidation disorders; and restrictive in myofibrillar myopathies. Left ventricular noncompaction is variably associated with the different myopathies. Conduction defects and arrhythmias constitute a major phenotype in myotonic dystrophies and skeletal muscle channelopathies. Although the actual cardiac management is rarely based on the cause, the cardiac phenotypes need precise characterization because they are often the only or the predominant manifestations and the prognostic determinants of many hereditary muscle disorders.
KW - arrhythmias
KW - cardiomyopathies
KW - dystrophy
KW - myopathy
KW - skeletal muscle
UR - http://www.scopus.com/inward/record.url?scp=85056191534&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85056191534&partnerID=8YFLogxK
U2 - 10.1016/j.jacc.2018.08.2182
DO - 10.1016/j.jacc.2018.08.2182
M3 - Review article
AN - SCOPUS:85056191534
VL - 72
SP - 2485
EP - 2506
JO - Journal of the American College of Cardiology
JF - Journal of the American College of Cardiology
SN - 0735-1097
IS - 20
ER -