Trait

Complete heart block

Clinical name: Third degree atrioventricular block

Third-degree atrioventricular (AV) block (also referred to as complete heart block) is the complete dissociation of the atria and the ventricles. Third-degree AV block exists when more P waves than QRS complexes exist and no relationship (no conduction) exists between them.

HPO HP:0001709

Body system: Abnormality of the cardiovascular system

This page as data

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12 genes linked to Complete heart block

Changes in these genes cause rare conditions in which Complete heart block is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.

Gene	How often it is seen	Conditions
EMDemerin	Always	In 1 condition
GRIN1glutamate ionotropic receptor NMDA type subunit 1	Always	In 1 condition
TBX5T-box transcription factor 5	Always	In 1 condition
MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8	Very often (80–99%)	In 1 condition
MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1	Very often (80–99%)	In 1 condition
RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B	Very often (80–99%)	In 1 condition
DEF6DEF6 guanine nucleotide exchange factor	Often (30–79%)	In 1 condition
PRKG2protein kinase cGMP-dependent 2	Often (30–79%)	In 1 condition
DESdesmin	Sometimes (5–29%)	In 1 condition
LMNAlamin A/C	Sometimes (5–29%)	In 1 condition
MYL4myosin light chain 4	Sometimes (5–29%)	In 1 condition
PTPN11protein tyrosine phosphatase non-receptor type 11	Not recorded	In 1 condition

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Narrower traits

Complete heart block with broad QRS complexes1 gene

Broader traits

Interruption of electrical communication between upper and lower chambers of heart

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
Data release 2026.10.16-c6eea6bf.

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