Table 1 Clinical Characteristics of case reports included
Papa et al. [5] | Bojaras et al. [6] | Finsterer et al. [7] | Guo et al. [8] | Juan-Mateu et al. [9] | Piccolo et al. [10] | |
|---|---|---|---|---|---|---|
Age of presentation | 27 | 22 | 26 | 23 | 26 | 31 |
Gender | Male | Male | Male | Male | Male | Male |
Initial complaint | NA | SOB and Orthopnea | NA | Progressive fatigue and exertional dyspnea | Asymptomatic* | SOB |
Initial diagnosis | DCM | DCM | DCM | DCM | DCM* | DCM |
Left ventricular EF at presentation | # | 25% | # | 35% | 20% | 17% |
CK level at initial presentation (IU/l) | # | 1964 | # | 4688 | 1400 | # |
Calf pseudohypertrophy at initial presentation | No | No | No | Yes | No | No |
Management | Heart transplant performed 2 years after diagnosis | LVAD—Heart Transplant 3 years after diagnosis | Heart transplant—1 year after diagnosis | Not specified | Medical management | Heart transplant right after presentation |
Age of initial musculoskeletal symptoms | 31 | 23 | 33 | No symptoms described | No symptoms described | No symptoms described |
Musculoskeletal complaint | Lower limb weakness | Lower limb weakness | Lower limb weakness and thigh wasting | No symptoms described | No symptoms described | No symptoms described |
BMD gene abnormality | BMD deletion exons 3–4 | BMD deletion | BMD deletion exons 48 and 49 and the intronic short tandem repeat sequence STR 49 | BMD deletion of exon 11–12 | BMD Mosaicism Exon 44 | BMD deletion exon 45–47 |
Family history of BMD | No | Brother | No | No | No | No |
Confirmed family history of muscular dystrophy | No | No | No | No | No | Two uncles |
CMR Findings | # | DCM with severe mitral valve regurgitation | # | LV lateral wall subepicardial replacement with fibrotic tissue and fat | # | # |
Skeletal muscle biopsy | # | # | Dystrophic changes | # | Dystrophic changes | Dystrophic changes |
Endomyocardial biopsy | # | Non-specific changes of DCM | # | # | # | Dystrophic changes |
Outcome—Follow up | Death—21 years after presentation | Death—3–4 years after presentation | Alive—8 years after presentation | Unknown | Alive 3 years after presentation | Alive 4 years after presentation |