MYBPHL
gene geneOn this page
Summary
MYBPHL (myosin binding protein H like, HGNC:30434) is a protein-coding gene on chromosome 1p13.3, encoding Myosin-binding protein H-like (A2RUH7). Myosin-binding protein which plays a role in cardiac function.
This gene encodes a protein with two immunoglobulin superfamily domains and a fibronectin 3 domain. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 343263 — RefSeq curated summary.
At a glance
- Gene–disease (curated): familial dilated cardiomyopathy (Limited, GenCC)
- GWAS associations: 9
- Clinical variants (ClinVar): 99 total
- Phenotypes (HPO): 1
- MANE Select transcript:
NM_001010985
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30434 |
| Approved symbol | MYBPHL |
| Name | myosin binding protein H like |
| Location | 1p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000221986 |
| Ensembl biotype | protein_coding |
| OMIM | 619807 |
| Entrez | 343263 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 7 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000357155, ENST00000477962, ENST00000489706, ENST00000968916, ENST00000968917, ENST00000968918, ENST00000968919, ENST00000968920, ENST00000968921
RefSeq mRNA: 2 — MANE Select: NM_001010985
NM_001010985, NM_001265613
CCDS: CCDS30793
Canonical transcript exons
ENST00000357155 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001408480 | 109297050 | 109297189 |
| ENSE00001424462 | 109306847 | 109307011 |
| ENSE00001425062 | 109297422 | 109297617 |
| ENSE00001425520 | 109298169 | 109298257 |
| ENSE00001426460 | 109296783 | 109296942 |
| ENSE00001428065 | 109296234 | 109296370 |
| ENSE00001428624 | 109292365 | 109292588 |
| ENSE00003559518 | 109294206 | 109294249 |
| ENSE00003578984 | 109295111 | 109295297 |
Expression profiles
Bgee: expression breadth ubiquitous, 123 present calls, max score 97.73.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.4076 / max 157.7508, expressed in 67 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 13686 | 0.3853 | 61 |
| 13687 | 0.0223 | 9 |
Top tissues by expression
131 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right atrium auricular region | UBERON:0006631 | 97.73 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 92.44 | silver quality |
| Ammon’s horn | UBERON:0001954 | 73.17 | gold quality |
| pituitary gland | UBERON:0000007 | 72.22 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 71.61 | gold quality |
| primary visual cortex | UBERON:0002436 | 71.55 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 71.35 | gold quality |
| right uterine tube | UBERON:0001302 | 70.49 | gold quality |
| prefrontal cortex | UBERON:0000451 | 70.09 | gold quality |
| cerebral cortex | UBERON:0000956 | 70.04 | gold quality |
| right frontal lobe | UBERON:0002810 | 69.93 | gold quality |
| frontal cortex | UBERON:0001870 | 69.90 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 69.17 | gold quality |
| adenohypophysis | UBERON:0002196 | 68.69 | gold quality |
| heart | UBERON:0000948 | 68.57 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 68.56 | gold quality |
| gastrocnemius | UBERON:0001388 | 68.51 | gold quality |
| substantia nigra | UBERON:0002038 | 66.67 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 66.32 | gold quality |
| putamen | UBERON:0001874 | 65.23 | gold quality |
| muscle of leg | UBERON:0001383 | 64.88 | gold quality |
| brain | UBERON:0000955 | 63.01 | gold quality |
| temporal lobe | UBERON:0001871 | 62.92 | gold quality |
| amygdala | UBERON:0001876 | 62.78 | gold quality |
| islet of Langerhans | UBERON:0000006 | 61.88 | gold quality |
| caudate nucleus | UBERON:0001873 | 61.08 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 60.93 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 59.67 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 59.53 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 58.85 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.09 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
7 targeting MYBPHL, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
| HSA-MIR-5004-5P | 99.68 | 66.63 | 1294 |
| HSA-MIR-1224-5P | 99.48 | 65.59 | 803 |
| HSA-MIR-4443 | 98.02 | 66.25 | 1928 |
| HSA-MIR-1914-5P | 97.83 | 66.21 | 807 |
| HSA-MIR-6872-3P | 97.08 | 66.99 | 750 |
| HSA-MIR-4448 | 97.04 | 66.22 | 752 |
Literature-anchored findings (GeneRIF, showing 3)
- MYBPHL truncations may increase risk for human arrhythmias and cardiomyopathy. (PMID:28778945)
- Myosin binding protein H-like (MYBPHL): a promising biomarker to predict atrial damage. (PMID:31292467)
- A proof-of-concept study for the pathogenetic role of enhancer hypomethylation of MYBPHL in multiple myeloma. (PMID:33772052)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Mybphl | ENSMUSG00000068745 |
| rattus_norvegicus | Mybphl | ENSRNOG00000037082 |
| drosophila_melanogaster | mtgo | FBGN0259735 |
| caenorhabditis_elegans | WBGENE00007944 |
Paralogs (11): MYOM2 (ENSG00000036448), FNDC3B (ENSG00000075420), MYBPC2 (ENSG00000086967), MYOM1 (ENSG00000101605), FNDC3A (ENSG00000102531), OBSL1 (ENSG00000124006), MYBPH (ENSG00000133055), MYBPC3 (ENSG00000134571), MYOM3 (ENSG00000142661), IGSF22 (ENSG00000179057), MYBPC1 (ENSG00000196091)
Protein
Protein identifiers
Myosin-binding protein H-like — A2RUH7 (reviewed: A2RUH7)
All UniProt accessions (1): A2RUH7
UniProt curated annotations — full annotation on UniProt →
Function. Myosin-binding protein which plays a role in cardiac function. Seems to regulate conduction in the atria and ventricular conduction systems.
Subcellular location. Cytoplasm. Myofibril. Sarcomere.
Tissue specificity. Expressed in heart, with higher expression in the atria. Expressed in left atrium and ventricle, arteria mammaria interna and skeletal muscle. Expressed specifically en the left atrium.
Similarity. Belongs to the immunoglobulin superfamily. MyBP family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| A2RUH7-1 | 1 | yes |
| A2RUH7-2 | 2 |
RefSeq proteins (2): NP_001010985, NP_001252542 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003598 | Ig_sub2 | Domain |
| IPR003599 | Ig_sub | Domain |
| IPR003961 | FN3_dom | Domain |
| IPR007110 | Ig-like_dom | Domain |
| IPR013098 | Ig_I-set | Domain |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR036116 | FN3_sf | Homologous_superfamily |
| IPR036179 | Ig-like_dom_sf | Homologous_superfamily |
| IPR050964 | Striated_Muscle_Regulatory | Family |
Pfam: PF00041, PF07679
UniProt features (11 total): domain 3, sequence variant 2, modified residue 2, chain 1, region of interest 1, disulfide bond 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-A2RUH7-F1 | 86.64 | 0.74 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (2): 38, 321
Disulfide bonds (1): 282–333
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 22 (showing top):
GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_IN_UTERO_EMBRYONIC_DEVELOPMENT, GOBP_EMBRYO_DEVELOPMENT, GOCC_MYOFILAMENT, PEDRIOLI_MIR31_TARGETS_DN, GOCC_SUPRAMOLECULAR_COMPLEX, GOCC_SUPRAMOLECULAR_POLYMER, DACH1_TARGET_GENES, HOXD1_TARGET_GENES, MAFG_TARGET_GENES, MEF2D_TARGET_GENES, GSE14308_TH2_VS_NAIVE_CD4_TCELL_DN, CUI_DEVELOPING_HEART_5TH_WEEK_VENTRICULAR_CARDIOMYOCYTE, DESCARTES_MAIN_FETAL_CARDIOMYOCYTES, NKX2_5_TARGET_GENES
GO Biological Process (2): in utero embryonic development (GO:0001701), biological_process (GO:0008150)
GO Molecular Function (2): molecular_function (GO:0003674), protein binding (GO:0005515)
GO Cellular Component (3): sarcomere (GO:0030017), myofilament (GO:0036379), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| myofibril | 2 |
| chordate embryonic development | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
422 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MYBPHL | PSRC1 | Q6PGN9 | 797 |
| MYBPHL | CELSR2 | Q9HCU4 | 718 |
| MYBPHL | SORT1 | Q99523 | 623 |
| MYBPHL | SYPL2 | Q5VXT5 | 491 |
| MYBPHL | TACC2 | O95359 | 437 |
| MYBPHL | PRPF19 | Q9UMS4 | 435 |
| MYBPHL | MACO1 | Q8N5G2 | 422 |
| MYBPHL | CASP8AP2 | Q9UKL3 | 422 |
| MYBPHL | AMHR2 | Q16671 | 409 |
| MYBPHL | OR10P1 | Q8NGE3 | 400 |
| MYBPHL | C22orf42 | Q6IC83 | 395 |
| MYBPHL | PSMA5 | P28066 | 389 |
| MYBPHL | PRR32 | B1ATL7 | 370 |
| MYBPHL | CCS | O14618 | 368 |
| MYBPHL | FAM177B | A6PVY3 | 366 |
IntAct
46 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MYBPHL | GFAP | psi-mi:“MI:0915”(physical association) | 0.720 |
| MYBPHL | FHL3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FHL3 | MYBPHL | psi-mi:“MI:0915”(physical association) | 0.560 |
| MYBPHL | MALSU1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CALR | MYBPHL | psi-mi:“MI:0915”(physical association) | 0.560 |
| CASP6 | MYBPHL | psi-mi:“MI:0915”(physical association) | 0.560 |
| DLST | MYBPHL | psi-mi:“MI:0915”(physical association) | 0.560 |
| LAMP2 | MYBPHL | psi-mi:“MI:0915”(physical association) | 0.560 |
| RAN | MYBPHL | psi-mi:“MI:0915”(physical association) | 0.560 |
| MYBPHL | TP53BP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CDK5R1 | MYBPHL | psi-mi:“MI:0915”(physical association) | 0.560 |
| MYBPHL | JPH3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MYBPHL | NEK7 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (15): MYBPHL (Two-hybrid), MYBPHL (Two-hybrid), GFPT2 (Affinity Capture-MS), TTC19 (Affinity Capture-MS), CASK (Affinity Capture-MS), PLEKHA6 (Affinity Capture-MS), MYBPHL (Two-hybrid), CASK (Affinity Capture-MS), PLEKHA6 (Affinity Capture-MS), MYBPHL (Two-hybrid), MYBPHL (Two-hybrid), MYBPHL (Two-hybrid), MYBPHL (Two-hybrid), DPCD (Affinity Capture-MS), MYBPHL (Cross-Linking-MS (XL-MS))
ESM2 similar proteins: A0A087WV53, A1CS92, A2ABU4, A2Q908, A2RUH7, A4QZL9, D3ZHA0, O01761, O70468, O75369, O88599, P05548, P11275, P11730, P11798, P13466, P21333, P56276, P56741, P70402, P79280, Q05623, Q13177, Q13203, Q13557, Q14315, Q2GM53, Q2HJF7, Q2URB7, Q5FW53, Q5PQM4, Q5RCC4, Q5VTT5, Q5ZJJ9, Q5ZKI0, Q62422, Q63518, Q6C1H8, Q6P686, Q6PHZ2
Diamond homologs: A0A087WV53, A2AAJ9, A2ASS6, A2RUH7, O75147, O94856, O94898, P05548, P52179, P54296, P97685, Q00872, Q23551, Q52KR2, Q5VST9, Q62234, Q80W87, Q810U3, Q8WX93, Q92626, A2CG49, F1M0Z1, O08775, O60229, O70468, O75962, O88599, P11799, P16419, P35918, P56741, P70402, P97924, Q05623, Q0KL02, Q13203, Q14324, Q14896, Q15746, Q5FW53
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
99 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 74 |
| Likely benign | 3 |
| Benign | 21 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1567 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:109296777:CCTTA:C | donor_loss | 1.0000 |
| 1:109296778:CTTA:C | donor_loss | 1.0000 |
| 1:109296779:TTACC:T | donor_loss | 1.0000 |
| 1:109296780:TACCT:T | donor_loss | 1.0000 |
| 1:109296781:A:AC | donor_gain | 1.0000 |
| 1:109296781:A:C | donor_loss | 1.0000 |
| 1:109296781:ACCTG:A | donor_gain | 1.0000 |
| 1:109296782:C:CC | donor_gain | 1.0000 |
| 1:109296782:CCTG:C | donor_gain | 1.0000 |
| 1:109296782:CCTGC:C | donor_gain | 1.0000 |
| 1:109296938:CACAG:C | acceptor_gain | 1.0000 |
| 1:109296939:ACAG:A | acceptor_gain | 1.0000 |
| 1:109296940:CAG:C | acceptor_gain | 1.0000 |
| 1:109296940:CAGC:C | acceptor_gain | 1.0000 |
| 1:109296941:AG:A | acceptor_gain | 1.0000 |
| 1:109296941:AGCTG:A | acceptor_loss | 1.0000 |
| 1:109296943:C:CC | acceptor_gain | 1.0000 |
| 1:109296952:C:CT | acceptor_gain | 1.0000 |
| 1:109296953:G:T | acceptor_gain | 1.0000 |
| 1:109294250:C:CC | acceptor_gain | 0.9900 |
| 1:109295105:CCTTA:C | donor_loss | 0.9900 |
| 1:109295106:CTTAC:C | donor_loss | 0.9900 |
| 1:109295107:TTAC:T | donor_loss | 0.9900 |
| 1:109295108:TA:T | donor_loss | 0.9900 |
| 1:109295293:TTGGG:T | acceptor_gain | 0.9900 |
| 1:109296782:CCT:C | donor_gain | 0.9900 |
| 1:109296952:C:T | acceptor_gain | 0.9900 |
| 1:109306888:C:CA | donor_gain | 0.9900 |
| 1:109295295:GGGC:G | acceptor_loss | 0.9800 |
| 1:109295296:GG:G | acceptor_gain | 0.9800 |
AlphaMissense
2283 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:109295154:G:C | N337K | 1.000 |
| 1:109295154:G:T | N337K | 1.000 |
| 1:109295174:A:C | Y331D | 0.999 |
| 1:109295212:A:G | L318P | 0.999 |
| 1:109295283:C:A | W294C | 0.999 |
| 1:109295283:C:G | W294C | 0.999 |
| 1:109295285:A:G | W294R | 0.999 |
| 1:109295285:A:T | W294R | 0.999 |
| 1:109296313:A:G | F263S | 0.999 |
| 1:109296860:C:G | R218P | 0.999 |
| 1:109297485:A:C | Y123D | 0.999 |
| 1:109297591:C:A | W87C | 0.999 |
| 1:109297591:C:G | W87C | 0.999 |
| 1:109297593:A:G | W87R | 0.999 |
| 1:109297593:A:T | W87R | 0.999 |
| 1:109295166:G:C | C333W | 0.998 |
| 1:109295173:T:G | Y331S | 0.998 |
| 1:109295284:C:G | W294S | 0.998 |
| 1:109296255:G:C | C282W | 0.998 |
| 1:109296863:A:G | F217S | 0.998 |
| 1:109297072:T:G | Q183P | 0.998 |
| 1:109297124:A:G | W166R | 0.998 |
| 1:109297124:A:T | W166R | 0.998 |
| 1:109297478:A:G | L125P | 0.998 |
| 1:109297530:A:G | S108P | 0.998 |
| 1:109297592:C:G | W87S | 0.998 |
| 1:109298185:A:G | L73P | 0.998 |
| 1:109295168:A:G | C333R | 0.997 |
| 1:109295174:A:T | Y331N | 0.997 |
| 1:109295281:A:G | L295P | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000104328 (1:109306022 A>T), RS1000107586 (1:109299101 C>T), RS1000277169 (1:109296424 G>A,C), RS1000417720 (1:109301950 A>G), RS1000485337 (1:109301829 A>G), RS1000523963 (1:109301705 C>A,T), RS1000705403 (1:109307447 C>G), RS1000831649 (1:109306206 C>G,T), RS1001001994 (1:109307715 G>A), RS1001244079 (1:109292521 T>C), RS1001358738 (1:109297320 G>A), RS1001418242 (1:109303235 A>G), RS1001496288 (1:109308759 TG>T), RS1001533866 (1:109302909 G>A), RS1001808480 (1:109297475 C>T)
Disease associations
OMIM: gene MIM:619807 | disease phenotypes: MIM:236750, MIM:601144
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| familial dilated cardiomyopathy | Limited | Unknown |
Mondo (6): non-immune hydrops fetalis (MONDO:0009369), long QT syndrome (MONDO:0002442), hypertrophic cardiomyopathy (MONDO:0005045), cardiomyopathy (MONDO:0004994), Brugada syndrome (MONDO:0015263), familial dilated cardiomyopathy (MONDO:0016333)
Orphanet (4): Non-immune hydrops fetalis (Orphanet:363999), Rare hypertrophic cardiomyopathy (Orphanet:217569), Brugada syndrome (Orphanet:130), Rare cardiomyopathy (Orphanet:167848)
HPO phenotypes
1 total (1 of 1 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0001639 | Hypertrophic cardiomyopathy |
GWAS associations
9 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005109_1 | Progranulin levels | 6.000000e-50 |
| GCST005316_310 | Intelligence (MTAG) | 4.000000e-11 |
| GCST006269_393 | General cognitive ability | 2.000000e-10 |
| GCST007045_13 | PR interval | 2.000000e-09 |
| GCST008059_86 | Estimated glomerular filtration rate | 9.000000e-20 |
| GCST010243_178 | Apolipoprotein B levels | 7.000000e-44 |
| GCST010243_20 | Apolipoprotein B levels | 4.000000e-13 |
| GCST010243_230 | Apolipoprotein B levels | 4.000000e-69 |
| GCST010321_99 | PR interval | 1.000000e-10 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004625 | progranulin measurement |
| EFO:0004337 | intelligence |
| EFO:0004462 | PR interval |
| EFO:0004615 | apolipoprotein B measurement |
MeSH disease descriptors (5)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D053840 | Brugada Syndrome | C14.280.067.322; C14.280.123.250; C16.320.100 |
| D009202 | Cardiomyopathies | C14.280.238 |
| D002312 | Cardiomyopathy, Hypertrophic | C14.280.238.100; C14.280.484.048.750.070.160 |
| D008133 | Long QT Syndrome | C14.280.067.565; C14.280.123.625; C16.131.240.400.715; C23.550.073.547 |
| C536231 | familial dilated cardiomyopathy (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
13 total (human), top 13 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, increases methylation | 2 |
| bufotalin | decreases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| theaflavin-3,3’-digallate | affects expression | 1 |
| Sunitinib | increases expression | 1 |
| Malathion | increases expression | 1 |
| Methapyrilene | increases methylation | 1 |
| Mustard Gas | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Triclosan | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
Clinical trials (associated diseases)
303 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT01798992 | PHASE4 | COMPLETED | Effect of Beta-blockers on Structural Remodeling and Gene Expression in the Failing Human Heart |
| NCT02513940 | PHASE4 | COMPLETED | Influence of Testosterone Administration on Drug-Induced QT Interval Prolongation and Torsades de Pointes |
| NCT03834883 | PHASE4 | COMPLETED | Reducing the Risk of Drug-Induced QT Interval Lengthening in Women |
| NCT04169100 | PHASE4 | UNKNOWN | Novel Form of Acquired Long QT Syndrome |
| NCT04675788 | PHASE4 | COMPLETED | Novel Approaches for Minimizing Drug-Induced QT Interval Lengthening |
| NCT00879060 | PHASE4 | COMPLETED | Clinical and Therapeutic Implications of Fibrosis in Hypertrophic Cardiomyopathy |
| NCT01721967 | PHASE4 | COMPLETED | Ranolazine for the Treatment of Chest Pain in HCM Patients |
| NCT02948998 | PHASE4 | UNKNOWN | Evaluating the Effect of Spironolactone on Hypertrophic Cardiomyopathy |
| NCT03249272 | PHASE4 | TERMINATED | Microvascular Dysfunction in Nonischemic Cardiomyopathy: Insights From CMR Assessment of Coronary Flow Reserve |
| NCT04133532 | PHASE4 | COMPLETED | Effect of Metoprolol in Post Alcohol Septal Ablation Patients With Hypertrophic Cardiomyopathy |
| NCT06401343 | PHASE4 | RECRUITING | Use of SGLT2i in noHCM With HFpEF |
| NCT07103655 | PHASE4 | NOT_YET_RECRUITING | The Therapeutic Value of Mavacamten in Hypertrophic Cardiomyopathy With Mid-to-Apical Left Ventricular Obstruction |
| NCT07600177 | PHASE4 | RECRUITING | Mavacamten to Aficamten Transition in Patients With Obstructive Hypertrophic Cardiomyopathy |
| NCT00348530 | PHASE4 | UNKNOWN | Carvedilol Versus Verapamil in Chronic Heart Failure Secondary to Non-Ischemic Cardiomyopathy |
| NCT00371891 | PHASE4 | COMPLETED | Ontario Multidetector Computed Tomographic (MDCT) Coronary Angiography Study (OMCAS) |
| NCT00401856 | PHASE4 | COMPLETED | CMR to Assess Fibrosis in Cardiomyopathy Using Eplerenone |
| NCT00559338 | PHASE4 | COMPLETED | Impact of Nesiritide Infusion for Decompensated Heart Failure in the Emergency Department |
| NCT00606775 | PHASE4 | UNKNOWN | The Preventive Efficacy of Carvedilol on Cardiac Dysfunction in Duchenne Muscular Dystrophy |
| NCT00317967 | PHASE3 | COMPLETED | Study to Determine if Atorvastatin Reduces Size and Stiffness of Muscle in the Left Ventricle of the Heart |
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Related Atlas pages
- Associated diseases: familial dilated cardiomyopathy
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Brugada syndrome, familial dilated cardiomyopathy, non-immune hydrops fetalis