Trait
Enlarged heart
Clinical name: Cardiomegaly
Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.
Summary
- Also called
- Increased heart size
- Body system
- Abnormality of the cardiovascular system
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test150 genes linked to Enlarged heart
Changes in these genes cause rare conditions in which Enlarged heart 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 |
|---|---|---|
| ABCC6ATP binding cassette subfamily C member 6 | Always | In 3 conditions |
| ALPK3alpha kinase 3 | Always | In 1 condition |
| APOA1apolipoprotein A1 | Always | In 1 condition |
| COX6B1cytochrome c oxidase subunit 6B1 | Always | In 1 condition |
| CPT2carnitine palmitoyltransferase 2 | Always | In 3 conditions |
| DAND5DAN domain BMP antagonist family member 5 | Always | In 1 condition |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Always | In 2 conditions |
| ESAMendothelial cell adhesion molecule | Always | In 1 condition |
| FLVCR1FLVCR choline and heme transporter 1 | Always | In 1 condition |
| GATBglutamyl-tRNA amidotransferase subunit B | Always | In 1 condition |
| GINS3GINS complex subunit 3 | Always | In 1 condition |
| KDM2Blysine demethylase 2B | Always | In 1 condition |
| LDB3LIM domain binding 3 | Always | In 1 condition |
| LYNLYN proto-oncogene, Src family tyrosine kinase | Always | In 1 condition |
| MYBPC3myosin binding protein C3 | Always | In 1 condition |
| NDUFB7NADH:ubiquinone oxidoreductase subunit B7 | Always | In 1 condition |
| NONOnon-POU domain containing octamer binding | Always | In 1 condition |
| NRAPnebulin related anchoring protein | Always | In 1 condition |
| RRAGCRas related GTP binding C | Always | In 1 condition |
| SCO2synthesis of cytochrome C oxidase 2 | Always | In 1 condition |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Always | In 1 condition |
| SLC31A1solute carrier family 31 member 1 | Always | In 1 condition |
| STAT2signal transducer and activator of transcription 2 | Always | In 1 condition |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Always | In 1 condition |
| ABCC9ATP binding cassette subfamily C member 9 | Very often (80–99%) | In 2 conditions |
| GAAalpha glucosidase | Very often (80–99%) | In 2 conditions |
| HYMAIhydatidiform mole associated and imprinted | Very often (80–99%) | In 1 condition |
| KCNJ8potassium inwardly rectifying channel subfamily J member 8 | Very often (80–99%) | In 1 condition |
| PLAGL1PLAG1 like zinc finger 1 | Very often (80–99%) | In 1 condition |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Often (30–79%) | In 1 condition |
| ACADVLacyl-CoA dehydrogenase very long chain | Often (30–79%) | In 1 condition |
| ACTA2actin alpha 2, smooth muscle | Often (30–79%) | In 1 condition |
| ACTN2actinin alpha 2 | Often (30–79%) | In 1 condition |
| C1QBPcomplement C1q binding protein | Often (30–79%) | In 1 condition |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Often (30–79%) | In 1 condition |
| CLIC2CLIC family member 2 | Often (30–79%) | In 1 condition |
| CLXNcalaxin | Often (30–79%) | In 1 condition |
| DESdesmin | Often (30–79%) | In 1 condition |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Often (30–79%) | In 1 condition |
| ELNelastin | Often (30–79%) | In 2 conditions |
Show 110 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| FBN1fibrillin 1 | Often (30–79%) | In 1 condition |
| FHL1four and a half LIM domains 1 | Often (30–79%) | In 1 condition |
| FIG4FIG4 phosphoinositide 5-phosphatase | Often (30–79%) | In 1 condition |
| FOXE3forkhead box E3 | Often (30–79%) | In 1 condition |
| HEY2hes related family bHLH transcription factor with YRPW motif 2 | Often (30–79%) | In 1 condition |
| LOXlysyl oxidase | Often (30–79%) | In 1 condition |
| MAT2Amethionine adenosyltransferase 2A | Often (30–79%) | In 1 condition |
| MFAP5microfibril associated protein 5 | Often (30–79%) | In 1 condition |
| MTO1mitochondrial tRNA translation optimization 1 | Often (30–79%) | In 1 condition |
| MYH11myosin heavy chain 11 | Often (30–79%) | In 2 conditions |
| MYLKmyosin light chain kinase | Often (30–79%) | In 1 condition |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Often (30–79%) | In 1 condition |
| NAGAalpha-N-acetylgalactosaminidase | Often (30–79%) | In 1 condition |
| NDUFC2NADH:ubiquinone oxidoreductase subunit C2 | Often (30–79%) | In 1 condition |
| NEK9NIMA related kinase 9 | Often (30–79%) | In 1 condition |
| NEXNnexilin F-actin binding protein | Often (30–79%) | In 1 condition |
| PLXND1plexin D1 | Often (30–79%) | In 1 condition |
| PRKAG2protein kinase AMP-activated non-catalytic subunit gamma 2 | Often (30–79%) | In 1 condition |
| PRKG1protein kinase cGMP-dependent 1 | Often (30–79%) | In 1 condition |
| PSMB9proteasome 20S subunit beta 9 | Often (30–79%) | In 1 condition |
| RBSNrabenosyn, RAB effector | Often (30–79%) | In 1 condition |
| SMAD2SMAD family member 2 | Often (30–79%) | In 1 condition |
| SMAD3SMAD family member 3 | Often (30–79%) | In 1 condition |
| SMAD4SMAD family member 4 | Often (30–79%) | In 1 condition |
| TGFB2transforming growth factor beta 2 | Often (30–79%) | In 1 condition |
| TGFB3transforming growth factor beta 3 | Often (30–79%) | In 1 condition |
| TGFBR1transforming growth factor beta receptor 1 | Often (30–79%) | In 1 condition |
| TGFBR2transforming growth factor beta receptor 2 | Often (30–79%) | In 1 condition |
| THSD4thrombospondin type 1 domain containing 4 | Often (30–79%) | In 1 condition |
| TTRtransthyretin | Often (30–79%) | In 3 conditions |
| VAC14VAC14 component of PIKFYVE complex | Often (30–79%) | In 1 condition |
| ACADMacyl-CoA dehydrogenase medium chain | Sometimes (5–29%) | In 1 condition |
| ACTA1actin alpha 1, skeletal muscle | Sometimes (5–29%) | In 1 condition |
| ADARadenosine deaminase RNA specific | Sometimes (5–29%) | In 1 condition |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Sometimes (5–29%) | In 1 condition |
| BMP6bone morphogenetic protein 6 | Sometimes (5–29%) | In 1 condition |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Sometimes (5–29%) | In 1 condition |
| CLIP2CAP-Gly domain containing linker protein 2 | Sometimes (5–29%) | In 1 condition |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Sometimes (5–29%) | In 1 condition |
| DOHHdeoxyhypusine hydroxylase | Sometimes (5–29%) | In 1 condition |
| DSPdesmoplakin | Sometimes (5–29%) | In 1 condition |
| DYSFdysferlin | Sometimes (5–29%) | In 1 condition |
| EIF4Heukaryotic translation initiation factor 4H | Sometimes (5–29%) | In 1 condition |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Sometimes (5–29%) | In 1 condition |
| FOCADfocadhesin | Sometimes (5–29%) | In 1 condition |
| FUCA1alpha-L-fucosidase 1 | Sometimes (5–29%) | In 2 conditions |
| GTF2Igeneral transcription factor IIi | Sometimes (5–29%) | In 1 condition |
| GTF2IRD1GTF2I repeat domain containing 1 | Sometimes (5–29%) | In 1 condition |
| GTF2IRD2GTF2I repeat domain containing 2 | Sometimes (5–29%) | In 1 condition |
| HFEhomeostatic iron regulator | Sometimes (5–29%) | In 2 conditions |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Sometimes (5–29%) | In 1 condition |
| IFIH1interferon induced with helicase C domain 1 | Sometimes (5–29%) | In 2 conditions |
| JUPjunction plakoglobin | Sometimes (5–29%) | In 2 conditions |
| KLHL40kelch like family member 40 | Sometimes (5–29%) | In 1 condition |
| KLHL41kelch like family member 41 | Sometimes (5–29%) | In 1 condition |
| LIMK1LIM domain kinase 1 | Sometimes (5–29%) | In 1 condition |
| LMOD3leiomodin 3 | Sometimes (5–29%) | In 1 condition |
| LSM11LSM11, U7 small nuclear RNA associated | Sometimes (5–29%) | In 1 condition |
| MED16mediator complex subunit 16 | Sometimes (5–29%) | In 1 condition |
| METTL27methyltransferase like 27 | Sometimes (5–29%) | In 1 condition |
| MOGSmannosyl-oligosaccharide glucosidase | Sometimes (5–29%) | In 1 condition |
| MT-CYBmitochondrially encoded cytochrome b | Sometimes (5–29%) | In 1 condition |
| NCF1neutrophil cytosolic factor 1 | Sometimes (5–29%) | In 1 condition |
| NEBnebulin | Sometimes (5–29%) | In 1 condition |
| NIPBLNIPBL cohesin loading factor | Sometimes (5–29%) | In 1 condition |
| OXCT13-oxoacid CoA-transferase 1 | Sometimes (5–29%) | In 1 condition |
| PGM1phosphoglucomutase 1 | Sometimes (5–29%) | In 1 condition |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Sometimes (5–29%) | In 1 condition |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Sometimes (5–29%) | In 1 condition |
| RFC2replication factor C subunit 2 | Sometimes (5–29%) | In 1 condition |
| RNASEH2Aribonuclease H2 subunit A | Sometimes (5–29%) | In 1 condition |
| RNASEH2Bribonuclease H2 subunit B | Sometimes (5–29%) | In 1 condition |
| RNASEH2Cribonuclease H2 subunit C | Sometimes (5–29%) | In 1 condition |
| RNU7-1RNA, U7 small nuclear 1 | Sometimes (5–29%) | In 1 condition |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Sometimes (5–29%) | In 1 condition |
| SLC29A3solute carrier family 29 member 3 | Sometimes (5–29%) | In 1 condition |
| STX1Asyntaxin 1A | Sometimes (5–29%) | In 1 condition |
| TBL2transducin beta like 2 | Sometimes (5–29%) | In 1 condition |
| TET3tet methylcytosine dioxygenase 3 | Sometimes (5–29%) | In 1 condition |
| TMEM270transmembrane protein 270 | Sometimes (5–29%) | In 1 condition |
| TREX1three prime repair exonuclease 1 | Sometimes (5–29%) | In 1 condition |
| TRIM37tripartite motif containing 37 | Sometimes (5–29%) | In 1 condition |
| VPS37DVPS37D subunit of ESCRT-I | Sometimes (5–29%) | In 1 condition |
| WDR37WD repeat domain 37 | Sometimes (5–29%) | In 1 condition |
| ZIC3Zic family zinc finger 3 | Sometimes (5–29%) | In 1 condition |
| ASXL1ASXL transcriptional regulator 1 | Rarely (1–4%) | In 1 condition |
| MTTPmicrosomal triglyceride transfer protein | Rarely (1–4%) | In 1 condition |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Not recorded | In 1 condition |
| BMP2bone morphogenetic protein 2 | Not recorded | In 1 condition |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Not recorded | In 1 condition |
| CHST3carbohydrate sulfotransferase 3 | Not recorded | In 1 condition |
| COX5Acytochrome c oxidase subunit 5A | Not recorded | In 1 condition |
| CPT1Acarnitine palmitoyltransferase 1A | Not recorded | In 1 condition |
| GBA1glucosylceramidase beta 1 | Not recorded | In 2 conditions |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Not recorded | In 1 condition |
| HBBhemoglobin subunit beta | Not recorded | In 1 condition |
| HEXBhexosaminidase subunit beta | Not recorded | In 1 condition |
| IGF2insulin like growth factor 2 | Not recorded | In 1 condition |
| KCNQ1potassium voltage-gated channel subfamily Q member 1 | Not recorded | In 1 condition |
| KCNQ1OT1KCNQ1 opposite strand/antisense transcript 1 | Not recorded | In 1 condition |
| LAMP2lysosome associated membrane protein 2 | Not recorded | In 1 condition |
| NAGLUN-acetyl-alpha-glucosaminidase | Not recorded | In 1 condition |
| NEU1neuraminidase 1 | Not recorded | In 1 condition |
| PAM16presequence translocase associated motor 16 | Not recorded | In 1 condition |
| PEX7peroxisomal biogenesis factor 7 | Not recorded | In 1 condition |
| PHYHphytanoyl-CoA 2-hydroxylase | Not recorded | In 1 condition |
| PSMB8proteasome 20S subunit beta 8 | Not recorded | In 1 condition |
| SLC17A5solute carrier family 17 member 5 | Not recorded | In 1 condition |
| SLC22A5solute carrier family 22 member 5 | Not recorded | In 1 condition |
| TAPT1transmembrane anterior posterior transformation 1 | 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.
Broader traits
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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