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. 2022 Nov 22;11(23):6880. doi: 10.3390/jcm11236880

Table 2.

Overview on monogenic diseases that can cause fetal bradycardia.

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.