Tetralogy of Fallot

Caring for someone with this diagnosis? Eleplan keeps diagnoses, medications, documents and every specialist in one plan.

Start free with Eleplan

Tetralogy of Fallot

ORPHA:3303Malformation syndrome

What it is

Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.

Key facts

Prevalence
1-5 / 10 000 (at birth)
Age of onset
Antenatal, Neonatal
Inheritance
Autosomal dominant, Multigenic/multifactorial
Classified as
Malformation syndrome

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Genes

CITED2Major susceptibility factor
FLT4Disease-causing germline mutation(s) (loss of function)
GATA4Disease-causing germline mutation(s) (loss of function)
GATA5Disease-causing germline mutation(s) (loss of function)
GATA6Major susceptibility factor
GDF1Major susceptibility factor
GJA5Major susceptibility factor
JAG1Disease-causing germline mutation(s)
KDRMajor susceptibility factor
NKX2-6Major susceptibility factor
ZFPM2Major susceptibility factor
NKX2-5Candidate gene tested
TBX1Candidate gene tested

ICD-10 codes

Q21.3ICD-10 names this disease exactly — shared with 1 other rare disease

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

GARD 2245MEDDRA 10016193MESH D013771MONDO 0008542OMIM 187500OMIM 617912OMIM 618780UMLS C0039685

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

Powered by Eleplan

A rare diagnosis is just the start. Eleplan keeps the whole care plan in one place.

Diagnoses, medications, documents, appointments, and the whole care team — organized and always in sync, so you are not retelling the same story to every new specialist. With Ellie, your AI care assistant, on top of it. Free to start.