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Trait

Right ventricular dilatation

Enlargement of the chamber of the right ventricle, which can be defined echocardiographically as a right ventricular to left ventricular ratio greater than 1:1.

HPO HP:0005133

Summary

Also called
Dilated heart right ventricle
Body system
Abnormality of the cardiovascular system

22 genes linked to Right ventricular dilatation

Changes in these genes cause rare conditions in which Right ventricular dilatation 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.

GeneHow often it is seenConditions
ALPK3alpha kinase 3AlwaysIn 1 condition
EFEMP2EGF-like fibulin extracellular matrix protein 2AlwaysIn 1 condition
EMDemerinAlwaysIn 1 condition
NRAPnebulin related anchoring proteinAlwaysIn 1 condition
SOX17SRY-box transcription factor 17AlwaysIn 1 condition
TGFB3transforming growth factor beta 3AlwaysIn 1 condition
CTNNA3catenin alpha 3Often (30–79%)In 1 condition
FNIP1folliculin interacting protein 1Often (30–79%)In 1 condition
SCN5Asodium voltage-gated channel alpha subunit 5Often (30–79%)In 1 condition
TLL1tolloid like 1Often (30–79%)In 2 conditions
ACTC1actin alpha cardiac muscle 1Sometimes (5–29%)In 1 condition
ALG9ALG9 alpha-1,2-mannosyltransferaseSometimes (5–29%)In 1 condition
CITED2Cbp/p300 interacting transactivator with ED-rich tail 2Sometimes (5–29%)In 2 conditions
GATA4GATA binding protein 4Sometimes (5–29%)In 1 condition
GATA6GATA binding protein 6Sometimes (5–29%)In 1 condition
IPO8importin 8Sometimes (5–29%)In 1 condition
KDM2Blysine demethylase 2BSometimes (5–29%)In 1 condition
MYH6myosin heavy chain 6Sometimes (5–29%)In 1 condition
NKX2-5NK2 homeobox 5Sometimes (5–29%)In 1 condition
TBX20T-box transcription factor 20Sometimes (5–29%)In 1 condition
TRAPPC11trafficking protein particle complex subunit 11Sometimes (5–29%)In 2 conditions
CDH2cadherin 2Not recordedIn 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.

Broader traits

Abnormal right ventricle morphology

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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