Table I.
Review of literature on cardiac involvement in facioscapulohumeral muscular dystrophy.
| Authors, year | Patients | Design | Investigations (number of patients in whom test is performed if not in all) | Main findings |
|---|---|---|---|---|
| Caponnetto et al., 1968 | n=1, clinically defined | Case report | ECG Echocardiography |
Persistent atrial standstill |
| Stevenson et al., 1991 | n=30, clinically defined | Cross-sectional | ECG Echocardiography (n=22) 24-hr Holter (n=15) Intracardiac studies |
Left atrial, right atrial or bi-atrial P wave abnormalities in 60%; evidence of abnormal AV node or infranodal conduction in 27%; sinus node function was abnormal in 10%; atrial flutter or fibrillation was induced in 10 of the 12 intracardiac electrophysiological studies. |
| Berlit and Stegaru-Hellring, 1991 | n=4, clinically defined | Cross-sectional | ECG Echocardiography |
Hypertrophic cardiomyopathy (n=2); bradycardia (n=1); prolonged QT interval (n=2) |
| De Visser et al., 1992 | n=31, clinically defined | Cross-sectional | ECG Echocardiography |
Mitral valve prolapse (n=1) |
| Faustmann et al., 1996 | n=15 (related), clinically / genetically defined | Cross-sectional | ECG at rest/stress Echocardiography Cardiac SPECT |
Abnormal reduced Tl-201 uptake in cardiac SPECT in the affected members of the family (n=7). |
| Laforêt et al., 1998 | n=100, clinically / genetically defined | Cross-sectional | ECG Echocardiography (n=20) 24-hr Holter (n=16) |
ECG abnormalities in 27%: incomplete RBBB in 19%, left ventricular hypertrophy in 2%, and more complex abnormalities in 5%. |
| Galetta et al., 2005 | n=24, clinically defined | Cross-sectional | ECG Echocardiography |
Patients had a subclinical cardiac involvement, which can represent a substrate for ventricular arrhythmias and heart failure. No signs of conduction abnormalities. |
| Trevisan et al., 2006 | n=83, clinically defined | Cross-sectional | ECG Echocardiography (most) 24-hr Holter |
Cardiac involvement of mainly arrhythmic origin in 12% of patients. |
Abbreviations: ECG=electrocardiogram; SPECT=single-photon emission computed tomography; RBBB= right bundle branch block, AV=atrial ventricle; QT interval= time between the start of the Q wave and the end of the T wave in ECG.