Table 2.
Primary/Secondary Bradycardia | Associated Disease | Gene(s) | Inheritance | Further Prenatal Manifestations |
---|---|---|---|---|
Primary | Long QT Syndrome | KCNQ1, KCNH2, SCN5A * | AD, AR | AV block, prolonged QTc [22], syndactyly in Timothy Syndrome [23] |
Sick Sinus Syndrome | HCN4, SCN5A | AD, AR | atrial flutter, prolonged QTc [14] | |
Short QT Syndrome | KCNQ1, KCNH2, KCNJ2 | AD | not reported | |
Holt Oram Syndrome | TBX5 | AD | structural heart defects (e.g., VSD), skeletal abnormalities (e.g., upper-limb malformations) [12] | |
Tuberous sclerosis | TSC1, TSC2 | AD | neuronal migration disorder [24], cardiac rhabdomyosarcoma [11] | |
Secondary | Lethal congenital glycogen storage disease of heart | PRKAG2 | AD | hypertrophic cardiomyopathy [25] |
Combined oxidative phosphorylation deficiency, type 41 | GATB | AR | cardiomegaly, fetal hydrops [26] | |
Familial erythrocytosis, type 2 | VHL | AR | not reported | |
Nuclear mitochondrial complex III deficiency, type 10 | UQCRFS1 | AR | IUGR [16] |
AD: autosomal dominant; AR: autosomal recessive; AV: atrioventricular; IUGR: intrauterine growth restriction. * three most common genes.