IllnessFallot tetralogy, differential diagnosis

NGS +

Tetralogy of Fallot (TOF) and its variants include ventricular septal defect, right ventricular outflow tract obstruction, overriding of the ventricular septum by the aortic root and right ventricular hypertrophy. TOF occurs with a frequency of approximately 10% in infants with congenital heart disease. The etiology of TOF is complex, and its development has been associated with environmental factors and genetic disorders, including chromosomal abnormalities. The 22q11.2 deletion syndrome accounts for approximately 16% of cases with postnatally diagnosed TOF. TOF is one of the critical congenital heart diseases, a term that refers to a group of severe heart defects that are present from birth and are often treated surgically with good results. These defects result from problems in the formation of one or more parts of the heart during the early stages of embryonic development. In most cases, the pathogenesis of TOF is multifactorial. The diagnostic yield achievable by molecular genetics is currently largely unknown. Thus, a negative result does not represent any exclusion of the clinical diagnosis.

References: DOI: 10.1097/CRD.00000000000170

DOI: https://doi.org/10.3389/fgene.2020.00957

• Alagille syndrome 1 (JAG1)
• Atrial septal defect 2, (GATA4)
• Atrial septal defect 7, with/-out AV conduction defects (NKX2-5)
• Atrial septal defect 9 (GATA6)
• Atrioventricular septal defect 4 (GATA4)
• Atrioventricular septal defect 5 (GATA6)
• Congenital heart defects, multiple types, 6 (GDF1)
• Conotruncal anomaly face syndrome (TBX2)
• Conotruncal heart malformations, variable (NKX2-5)
• Deafness, congenital heart defects, posterior embryotoxon (JAG1)
• DiGeorge syndrome (TBX2)
• Hypoplastic left heart syndrome 2 (NKX2-5)
• Hypothyroidism, congenital nongoitrous, 5 (NKX2-5)
• Pancreatic agenesis + congenital heart defects (GATA6)
• Persistent truncus arteriosus (GATA6)
• Right atrial isomerism, Ivemark (GDF1)
• Testicular anomalies with or without congenital heart disease (GATA4)
• Tetralogy of Fallot, TOF (JAG1, NKX2-5, TBX1)
• Velocardiofacial syndrome (TBX1)
• Ventricular septal defect 1 (GATA4)
• Ventricular septal defect 3 (NKX2-5)