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Trait

Right ventricular hypertrophy

In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal.

HPO HP:0001667

Summary

Also called
Heart right ventricle hypertrophy
Body system
Abnormality of the cardiovascular system

33 genes linked to Right ventricular hypertrophy

Changes in these genes cause rare conditions in which Right ventricular hypertrophy 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
PIGAphosphatidylinositol glycan anchor biosynthesis class AAlwaysIn 1 condition
SOX17SRY-box transcription factor 17AlwaysIn 1 condition
ALPK3alpha kinase 3Very often (80–99%)In 1 condition
BMPR2bone morphogenetic protein receptor type 2Very often (80–99%)In 1 condition
CAPNS1calpain small subunit 1Often (30–79%)In 1 condition
NONOnon-POU domain containing octamer bindingOften (30–79%)In 2 conditions
PLXND1plexin D1Often (30–79%)In 1 condition
SCO2synthesis of cytochrome C oxidase 2Often (30–79%)In 1 condition
SGCGsarcoglycan gammaOften (30–79%)In 1 condition
SLC25A12solute carrier family 25 member 12Often (30–79%)In 1 condition
DYSFdysferlinSometimes (5–29%)In 1 condition
FBXL4F-box and leucine rich repeat protein 4Sometimes (5–29%)In 1 condition
FOXF1forkhead box F1Sometimes (5–29%)In 1 condition
GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and betaSometimes (5–29%)In 1 condition
GPC3glypican 3Sometimes (5–29%)In 1 condition
GTPBP3GTP binding protein 3, mitochondrialSometimes (5–29%)In 1 condition
IPO8importin 8Sometimes (5–29%)In 1 condition
KMT2Dlysine methyltransferase 2DSometimes (5–29%)In 2 conditions
LTBP4latent transforming growth factor beta binding protein 4Sometimes (5–29%)In 1 condition
MYH7myosin heavy chain 7Sometimes (5–29%)In 1 condition
NPHP3nephrocystin 3Sometimes (5–29%)In 1 condition
PIGNphosphatidylinositol glycan anchor biosynthesis class NSometimes (5–29%)In 1 condition
SELENONselenoprotein NSometimes (5–29%)In 1 condition
SFTPBsurfactant protein BSometimes (5–29%)In 1 condition
TTNtitinSometimes (5–29%)In 1 condition
COL13A1collagen type XIII alpha 1 chainRarely (1–4%)In 1 condition
COLQcollagen like tail subunit of asymmetric acetylcholinesteraseRarely (1–4%)In 1 condition
KDM6Alysine demethylase 6ARarely (1–4%)In 1 condition
LAMB2laminin subunit beta 2Rarely (1–4%)In 1 condition
NOTCH1notch receptor 1Not recordedIn 1 condition
STAMBPSTAM binding proteinNot recordedIn 1 condition
VIPAS39VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homologNot recordedIn 1 condition
VPS33BVPS33B late endosome and lysosome associatedNot 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 morphologyVentricular hypertrophy

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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