Table 1 Summary of the clinical features of the patients
Clinical features | Our patient | Ganapathi et al.(2020) | Hemanth et al.(2021) | Bibhuti et al(2022). | |||||
|---|---|---|---|---|---|---|---|---|---|
Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | Patient 6 | Patient 7 | Patient 8 | Patient 9 | |
Variants in RPL3L (NM_005061) | c.80G > A (p.Gly27Asp) and c.1074dupA (p.Ala359fs*6) | c.923 A > T (p.Asp308Val) and c.1027 C > T (p.Arg343Trp) | c.923 A > T (p.Asp308Val) and c.1027 C > T (p.Arg343Trp) | c.566 C > T (p.Thr189Met) and c.922G > A (p.Asp308Asn) | c.80G > A (p.Gly27Asp) and c.481 C > T (p.Arg161Trp) | c.80G > A (p.Gly27Asp) and c.481 C > T (p.Arg161Trp) | c.1076_1080delCCGTG (p.Ala359Glyfs*4) and c.80G > A (p.Gly27Asp) | c.1076_1080delCCGTG (p.Ala359Glyfs*4) and c.80G > A (p.Gly27Asp) | c.151 G > A (p.Ala51Thr) and c.691G > T (p.Val231Phe) |
Gender | Female | Female | Male | Male | Female | Male | Male | Male | Female |
Age at Diagnosis Of DCM | Day31 | Day1 | Day6 | Day75 | Day48 | Day12 | Day1 | Day54 | Day60 |
Country | China | Germany | Germany | Colombia | Spain | Spain | USA | USA | USA |
Additional Cardiac Findings | PFO, PAC, TR, AB, MR and ST abnormalities, | PFO and PH | TR | TR, MR RBBB ST-T abnormalities | MR ST and T abnormalities | MR, TR. ST and T abnormalities, VSD | MR ST and T abnormalities | MR ST and T abnormalities | NA |
Alive/Dead | Alive at 3 months | Died 21st DOL | Died 15th DOL | HT at 6 months Alive at 9 years | HT at 5 months Alive at 10 years | Died 30th DOL | Died 124th DOL | Died 56th DOL | HT at 2 months Alive at 5 months |