Table 1. Infantile-onset cardiomyopathy with PRKAG2 mutation.
*Same variant with our case
HCM: hypertrophic cardiomyopathy; DCM: dilated cardiomyopathy; IVS: interventricular septum; PRKAG2: protein kinase adenosine monophosphate-activated non-catalytic subunit gamma 2
| Author | Year | Sex | Gestational age | Presenting age | Clinical findings | Outcome | Mutation |
| Burwinkel et al. [10] | 2005 | Female | 31 weeks | Fetus | Cardiomegaly, bradycardia, ventricular fibrillation | Died (2 months) | Arg531Gln (1592G>A)* |
| Female | 37 weeks | 1st week of life | Fetal bradycardia, cardiac failure, severe hypertrophic cardiomyopathy | Died (34 days) | Arg531Gln (1592G>A)* | ||
| Male | 28 weeks | At birth | Bradycardia, biventricular hypertrophy, pericardial and pleural effusions, ascites | Died (21 days) | Arg531Gln (1592G>A)* | ||
| Akman et al. [3] | 2007 | Female | NA | 10 weeks of life | Severe biventricular hypertrophy | Died (5 months) | Arg384Thr (1151G>C) |
| Kelly et al. [11] | 2009 | Male | NA | 6 months of life | Systolic ejection murmur, left ventricular hypertrophy, HCM | Alive | Glu506Gln (NA) |
| Austin et al. [7] | 2017 | Male | 38 weeks | 2.5 months of life | Hypotonia, areflexia, feeding difficulties, mild hypertrophy of the IVS | Alive | Gly100Ser (298G>A) |
| Torok et al. [12] | 2017 | Female | Term | Fetus (27 weeks) | Mild hypertrophy of the IVS, HCM developmental delay | Alive | Lys475Glu (1423A>G) |
| Female | Term | 5 weeks of life | Severe HCM, ventricular ectopy, progressive cardiopulmonary failure | Died (4 months) | Arg531Gln (1592G>A)* | ||
| Male | Term | 2 months of life | Hypotonia, areflexia, mild hypertrophy of the IVS | Alive | Gly100Ser (298G>A) | ||
| Xu et al. [6] | 2017 | Female | NA | Fetus (27 weeks) | Modest HCM | Alive | Lys475Glu (1423A>G) |
| Gorla et al. [9] | 2018 | Male | 36 weeks | Fetus (28 weeks) | Fetal hydrops, severe HCM small pericardial effusion | Died (7 weeks) | Arg531Gln (1592G>A)* |
| Beyzaei et al. [13] | 2021 | Female | NA | 1 month of life | Pulmonary hypertension, short stature mitral, and tricuspid regurgitation | Alive | Met198Leu (592A>T) |
| Gong et al. [14] | 2022 | Female | NA | 9 months of life | DCM with heart failure | Alive | Thr142Ile (425C>T) |
| White-Brown et al. [15] | 2024 | Male | 35 weeks | Fetus (32 weeks) | Biventricular hypertrophy, bradycardia, large pleural effusion | Died (17 hours) | Arg384Gly (1150A>G) |
| Present case | 2024 | Female | 34 weeks | Fetus (25 weeks) | Fetal hydrops, severe HCM refractory ascites, pericardial effusion | Died (77 days) | Arg531Gln (1592G>A)* |