Table 1.
Studies included in the systematic review.
| Author/Year | Type of Publ |
N. of Pts |
Age at Diagnosis (yrs) |
M (%) |
Disease Gene |
ECG abn (n) |
LV Echo Dilation /Dysfuntion (n) |
LV Epicardial LGE (n) |
Hot Phase (n) |
MVA (n) |
ICD (n) |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Norman et al., 2005 [16] | Original research | 12 | 39 ± 14 | 4 | DSP | 7/12 | 10/12 | 8/12 | 0 | 4/12 | 4/12 |
| Posch et al., 2009 [17] |
Original research | 5 | 32 ± 8 | 3 | PLN | 5/5 | 5/5 | 2/2 | 0 | 3/5 | 1/5 |
| Navarro-Manchón et al., 2011 [18] | Brief Report |
4 | 50 ± 19 | 2 | DSP | ¾ | ¼ | 2/4 | 0 | ¼ | 0 |
| Pilichou et al., 2014 [19] | Brief Report |
3 | 31 ± 20 | 2 | DSP | 3/3 | 0 | 3/3 | 0 | 1/3 | 0 |
| López-Ayala et al., 2014 [20] | Original research | 6 | 38 ± 18 | 3 | DSP | NA | NA | 6/6 | 0 | 2 | 6 |
| Saguuner et al., 2015 [21] | Case Report |
1 | 36 | 1 | PKP2 | 1/1 | 0 | 1/1 | 0 | 1/1 | 1 |
| López-Ayala et al., 2015 [22] | Reseach letter | 4 | 45 ± 23 | 1 | PLN | 2/4 | 2/4 | 2/3 | 0 | ¼ | 1 |
| Ortiz-Genga et al., 2015 [23] | Original research | 15 | 40 ± 17 | 11 | FLNC | 6/12 | 10/13 | 13/14 | 3/15 | 6/15 | 1/15 |
| Bermudez-Jimenez et al., 2018 [24] | Original research | 13 | 43 ± 18 | 4 | DES | 10/13 | 11/13 | 13/13 | 4/13 | 10/13 | 3/13 |
| DeWitt et al., 2019 [25] | Original research | 7 | 13 ± 2 | 4 | DSP, DSP + DSG2, LMNA | NA | 7/7 | 5/7 | 2/7 | 4/7 | 0 |
| Li et al., 2019 [26] |
Case Report |
1 | 36 | 1 | PLN | 1 | 1 | 1 | 0 | 0 | 0 |
| Piriou et al., 2020 [27] |
Original research | 16 | 40 ± 24 | 6 | DSP, DSP + MYBPC3 | 6/15 | 5/15 | 14/16 | 2 | 1 | NA |
| Tsuruta et al., 2020 [28] | Case Report |
1 | 74 | 1 | DSP | 1 | 1 | 1 | 0 | 0 | 1 |
| Hall et al., 2020 [29] |
Original research | 10 | 58 ± 18 | 6 | FLNC | 7/10 | 6/10 | 9/10 | 0 | 2/10 | 0 |
| Verma et al., 2020 [30] |
Case Report |
1 | 21 | 0 | DSP | NA | 1 | 0 | 1 | 0 | 0 |
| Kissopoulou et al., 2020 [31] | Brief Reports |
3 | 25 ± 3 | 2 | DSP | 2 | 1 | 3 | 2/3 | 0 | 0 |
| Poller et al., 2020 [32] | Case Report |
1 | 15 | 1 | DSP + Dystrophin | 1 | 1 | 1 | 1 | 0 | 0 |
| Graziosi et al., 2020 [33] | Case Report |
2 | 19, 46 | 2 | DSP | 0 | 0 | 1 | 0 | 1 | 1 |
| Maghin et al., 2019 [34] | Case Report |
1 | 16 | 0 | DSP | NA | NA | 0 | 0 | 1 | 0 |
| Heliö et al., 2020 [35] |
Original research | 12 | 45 ± 17 | 7 | DSP | 10 | 11 | 4/4 | 1 | 5 | 6 |
| Protonotarios et al., 2020 [36] | Original research | 9 | 52 ± 13 | 5 | DES | 9/9 | 8/9 | 7/8 | 0 | 2/9 | 7/9 |
| Leite et al., 2021 (37) |
Case Report |
2 | 16, 61 | 2 | DSP | ½ | ½ | 2/2 | 0 | 2/2 | 0 |
| Lao et al., 2021 [38] |
Case Report |
1 | 28 | 0 | DSG2 | 1 | 0 | 1 | 0 | 1 | 1 |
| Kandhari et al., 2021 [39] | Case Report |
1 | 50 | 1 | FLNC | 1 | 1 | 1 | 0 | 1 | 1 |
| Rubino et al., 2021 [40] | Case Report |
3 | 36 ± 17 | 1 | DSP | 3/3 | 3/3 | 3/3 | 1/3 | 0 | 1/3 |
| Celeghin et al., 2021 [41] | Original research | 9 | 40 ± 17 | 7 | FLNC | 5/8 | 4/8 | 6/6 | 0 | 3/9 | 2/9 |
| Bariani et al., 2021 [10] | Original research | 4 | 23 ± 21 | 2 | DSP | 2/4 | ¼ | 4/4 | 3/4 | 0 | 0 |
| Rawal et al., 2021 [42] |
Case Report |
3 | 50 ± 27 | 1 | DSP, DSP + JUP |
NA | NA | 3/3 | 0 | 1 | 3 |
| Efthimiadis et al., 2021 [43] | Case Report |
3 | 47 ± 26 | 0 | DSP | 2/3 | 2/3 | 2/3 | 1 | 1 | 1 |
| Westphal et al., 2022 [44] | Case Report |
2 | 24, 25 | 1 | DSP | NA | 1/1 | 2/2 | 1/2 | 1/1 | 1 |
| Santos Ferreira et al., 2022 [45] | Case Report |
1 | 45 | 1 | DSP | 1 | 1 | 1 | 0 | 1 | 1 |
publ: publication; ALVC: Arrhythmogenic left ventricular cardiomyopathy; M: males; SD: sudden death; ECG abn: ECG abnormalities; LV: left ventricular; LGE: late gadolinium enhancement; ICD: implantable defibrillator; NA: not available; DSP: Desmoplakin; PLN: Phospholamban; PKP2: Plakofillin-2; DES: Desmin; DSG2: Desmoiglein-2; FLNC: Filamin-C, LMNA: laminin-A, JUP: junction Plakoglobin, MYBPC3: cardiac myosin binding protein C, MVA: Major Ventricular Arrhythmias.