Hypertensive heart disease
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Summary
Hypertensive heart disease (MONDO:0001302) is a disease with 15 GWAS associations across 16 studies and 17 clinical trials. Top therapeutic interventions include atropine sulfate, irbesartan, and ramipril. A subtype of heart disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- GWAS associations: 15
- Clinical trials: 17
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | hypertensive heart disease |
| Mondo ID | MONDO:0001302 |
| DOID | DOID:11516 |
| ICD-10-CM | I11 |
| ICD-11 | 1210166201 |
| NCIT | C4907 |
| SNOMED CT | 64715009 |
| UMLS | C0152105 |
| MedGen | 508889 |
| Is cancer (heuristic) | no |
Also known as: hypertensive heart disease
Data availability: 15 GWAS associations (16 studies).
Disease family
This is a subtype of heart disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › cardiovascular disorder › heart disorder › hypertensive heart disease
Related subtypes (33): endocardium disorder, pericardium disorder, cardiac tuberculosis, heart conduction disease, heart valve disorder, cardiomyopathy, coronary artery disorder, heart failure, congenital heart disease, heart aneurysm, rheumatic heart disease, cardiac rhythm disease, white forelock with malformations, atrioventricular defect-blepharophimosis-radial and anal defect syndrome, microcephaly-cardiac defect-lung malsegmentation syndrome, PHACE syndrome, microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type, cardiac anomalies-heterotaxy syndrome, polyvalvular heart disease syndrome, Thomas syndrome, 22q11.2 deletion syndrome, myocardial rupture, heart neoplasm, aortopulmonary window, cor biloculare, inflammation of heart layer, myocardial disorder, carcinoid heart disease, omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome, coronary microvascular disorder, cardiac ventricle disorder, cardiogenetic disease, cardiogenic shock
Genetics & variants
GWAS landscape
15 GWAS associations across 16 studies. Top hits map to 8 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs36060036 | 2e-37 | UMOD | C | 0.11 |
| rs16998073 | 1e-35 | PRDM8 - FGF5 | ? | |
| rs10857147 | 3e-35 | PRDM8 - FGF5 | ? | |
| rs77924615 | 4e-30 | PDILT | G | 0.1 |
| rs11642015 | 3e-25 | FTO | C | 0.06 |
| rs1421085 | 2e-19 | FTO | T | 0.06 |
| rs60910145 | 3e-18 | APOL1 | T | 0.12 |
| rs6464165 | 4e-16 | PRKAG2 | T | 0.05 |
| rs10224210 | 6e-16 | PRKAG2 | T | 0.06 |
| rs3925584 | 3e-15 | MPPED2-AS1 - DCDC1 | T | 0.05 |
| rs10846744 | 4e-13 | SCARB1 | G | 0.05 |
| rs7903146 | 6e-12 | TCF7L2 | C | 0.04 |
| rs10757278 | 3e-11 | CDKN2B-AS1 | A | 0.06 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90475924 | Verma A | 2024 | 60,962 | 358,617 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90651159 | Liu TY | 2025 | 28,975 | 175,194 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
| GCST90651158 | Liu TY | 2025 | 26,950 | 175,194 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
| GCST90475925 | Verma A | 2024 | 26,211 | 401,952 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90475923 | Verma A | 2024 | 22,462 | 90,187 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90480127 | Verma A | 2024 | 22,462 | 90,187 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90477853 | Verma A | 2024 | 8,634 | 106,230 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90480792 | Verma A | 2024 | 8,634 | 106,230 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90477850 | Verma A | 2024 | 6,299 | 50,504 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90477852 | Verma A | 2024 | 2,572 | 55,049 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 1 |
| Tier 2: splice/UTR | 0 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 12 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 12 |
| low_freq (0.01-0.05) | 1 |
| rare (<0.01) | 0 |
| unknown | 0 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 9 |
| intergenic_variant | 3 |
| missense_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs36060036 | 16 | 20350628 | C>T | 0.163 | intron_variant | UMOD | 2e-37 | Tier 4: intronic/intergenic |
| rs16998073 | 4 | 80263187 | A>C,G,T | 0.05 | intergenic_variant | PRDM8 - FGF5 | 1e-35 | Tier 4: intronic/intergenic |
| rs10857147 | 4 | 80259918 | A>T | 0.05 | intergenic_variant | PRDM8 - FGF5 | 3e-35 | Tier 4: intronic/intergenic |
| rs77924615 | 16 | 20381010 | G>A | 0.174 | intron_variant | PDILT | 4e-30 | Tier 4: intronic/intergenic |
| rs11642015 | 16 | 53768582 | C>G,T | 0.402 | intron_variant | FTO | 3e-25 | Tier 4: intronic/intergenic |
| rs1421085 | 16 | 53767042 | T>C | 0.332 | intron_variant | FTO | 2e-19 | Tier 4: intronic/intergenic |
| rs60910145 | 22 | 36265988 | T>C,G | 0.044 | missense_variant | APOL1 | 3e-18 | Tier 1: coding |
| rs6464165 | 7 | 151716038 | T>C | 0.282 | intron_variant | PRKAG2 | 4e-16 | Tier 4: intronic/intergenic |
| rs10224210 | 7 | 151716108 | T>C | 0.233 | intron_variant | PRKAG2 | 6e-16 | Tier 4: intronic/intergenic |
| rs3925584 | 11 | 30738788 | T>A,C,G | 0.454 | intron_variant | MPPED2-AS1 - DCDC1 | 3e-15 | Tier 4: intronic/intergenic |
| rs10846744 | 12 | 124827879 | G>C,T | 0.26 | intron_variant | SCARB1 | 4e-13 | Tier 4: intronic/intergenic |
| rs7903146 | 10 | 112998590 | C>G,T | 0.289 | intron_variant | TCF7L2 | 6e-12 | Tier 4: intronic/intergenic |
| rs10757278 | 9 | 22124478 | A>C,G,T | 0.484 | intergenic_variant | CDKN2B-AS1 | 3e-11 | Tier 4: intronic/intergenic |
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 17.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 13 |
| PHASE2 | 2 |
| PHASE4 | 1 |
| PHASE1 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT00517322 | PHASE4 | UNKNOWN | Left Atrial Remodelling in Hypertension: Effects of Ramipril or Irbesartan |
| NCT06186102 | PHASE2 | ACTIVE_NOT_RECRUITING | Polyamine Treatment in Elderly Patients With Coronary Artery Disease |
| NCT03553810 | PHASE2 | COMPLETED | Role of ARNi in Ventricular Remodeling in Hypertensive LVH |
| NCT01185067 | PHASE1 | COMPLETED | Physiological Effects of Grape Seed Extract in Diastolic Heart Failure |
| NCT05994729 | Not specified | NOT_YET_RECRUITING | Impact of Renal Denervation in Patients With Coronary Microvascular Dysfunction: Study Design and Rationale |
| NCT06409585 | Not specified | RECRUITING | Cardiomyopathies and Heart Muscle Diseases: Cardiac Imaging in the Evaluation of Myocardial Fibrosis Transition |
| NCT06524440 | Not specified | RECRUITING | Hypertensive Heart Disease in DR Congo |
| NCT00939640 | Not specified | COMPLETED | Effects of the Dietary Approaches to Stop Hypertension(DASH) Sodium-restricted Diet in Diastolic Heart Failure |
| NCT01942395 | Not specified | TERMINATED | Dietary Approaches to Stop Hypertension in ‘Diastolic’ Heart Failure 2 (DASH-DHF 2) |
| NCT01990911 | Not specified | COMPLETED | Renal Sympathetic Denervation Prevents Atrial Fibrillation in Patients With Hypertensive Heart Disease: a Pilot Study |
| NCT02809040 | Not specified | UNKNOWN | E_Stethoscope: Portable Digital Auscultation Study on Hypertensive/Hypertensive Heart Disease Patients |
| NCT03100812 | Not specified | COMPLETED | Asian American Partnerships in Research and Empowerment (AsPIRE) |
| NCT03271385 | Not specified | COMPLETED | Differentiation HHD From HCM (EARLY-MYO-HHD) |
| NCT04190420 | Not specified | UNKNOWN | The Transition From Hypertension to Hypertensive Heart Disease and Heart Failure, the PREFERS Hypertension Study |
| NCT04495231 | Not specified | COMPLETED | Sympathetic Activity and Cardiometabolic Complications |
| NCT04505228 | Not specified | COMPLETED | The Personalized Chinese Herb Formulas Over Hypertensive Bradyarrhythmia |
| NCT05226416 | Not specified | COMPLETED | Analysis of Health Status of Сomorbid Adult Patients With COVID-19 Hospitalised in Fourth Wave of SARS-CoV-2 Infection |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| ATROPINE SULFATE | 4 | 1 |
| IRBESARTAN | 4 | 1 |
| RAMIPRIL | 4 | 1 |
| SPERMIDINE | 3 | 1 |
| CHEMBL5315276 | 0 | 1 |
Related Atlas pages
- Drugs: Atropine, Irbesartan, Ramipril, Spermidine