Tako-tsubo cardiomyopathy
diseaseOn this page
Also known as acute stress cardiomyopathyampulla cardiomyopathyapical ballooning syndromeASCballooning cardiomyopathybroken heart syndromebroken-heart syndromeleft ventricular transient apical ballooningstress cardiomyopathystress-induced cardiomyopathyTako tsubo syndromeTako-Tsubo syndromeTakotsubo CardiomyopathyTakotsubo syndrometransient antero-apical dyskinesiatransient left ventricular apical ballooning syndrome
Summary
Tako-tsubo cardiomyopathy (MONDO:0019018) is a disease with 5 GWAS associations across 1 studies and 59 clinical trials. Top therapeutic interventions include bisoprolol, adenosine, and metoprolol. A subtype of cardiomyopathy — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: Unknown (Worldwide) [Orphanet-validated]
- GWAS associations: 5
- Phenotypes (HPO): 37
- Clinical trials: 59
Clinical features
Epidemiology
Prevalence records
1 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 2.98 | France | Validated |
Signs & symptoms
Clinical features (HPO)
37 HPO clinical features (Orphanet curated; top 37 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0012663 | Mildly reduced ejection fraction | Very frequent (80-99%) |
| HP:0010872 | T-wave inversion | Frequent (30-79%) |
| HP:0012251 | ST segment elevation | Frequent (30-79%) |
| HP:0031483 | Reduced contraction of the left ventricular apex | Frequent (30-79%) |
| HP:0100749 | Chest pain | Frequent (30-79%) |
| HP:0410174 | Increased troponin T level in blood | Frequent (30-79%) |
| HP:0000822 | Hypertension | Occasional (5-29%) |
| HP:0001513 | Obesity | Occasional (5-29%) |
| HP:0001657 | Prolonged QT interval | Occasional (5-29%) |
| HP:0001681 | Angina pectoris | Occasional (5-29%) |
| HP:0001962 | Palpitations | Occasional (5-29%) |
| HP:0002013 | Vomiting | Occasional (5-29%) |
| HP:0002094 | Dyspnea | Occasional (5-29%) |
| HP:0002615 | Hypotension | Occasional (5-29%) |
| HP:0005184 | Prolonged QTc interval | Occasional (5-29%) |
| HP:0006698 | Dilatation of the ventricular cavity | Occasional (5-29%) |
| HP:0008180 | Mildly elevated creatine kinase | Occasional (5-29%) |
| HP:0009805 | Low-output congestive heart failure | Occasional (5-29%) |
| HP:0012250 | ST segment depression | Occasional (5-29%) |
| HP:0025077 | Decreased QRS voltage | Occasional (5-29%) |
| HP:0031138 | Abnormal B-type natriuretic peptide level | Occasional (5-29%) |
| HP:6001073 | Left ventricular apical dyskinesis | Occasional (5-29%) |
| HP:0001677 | Coronaryartery atherosclerosis | Excluded (0%) |
| HP:0005145 | Coronary artery stenosis | Excluded (0%) |
| HP:0006704 | Abnormal coronary artery morphology | Excluded (0%) |
| HP:0012819 | Myocarditis | Excluded (0%) |
| HP:0001250 | Seizure | Very rare (<1-4%) |
| HP:0001279 | Syncope | Very rare (<1-4%) |
| HP:0001653 | Mitral regurgitation | Very rare (<1-4%) |
| HP:0001662 | Bradycardia | Very rare (<1-4%) |
| HP:0001663 | Ventricular fibrillation | Very rare (<1-4%) |
| HP:0001727 | Thromboembolic stroke | Very rare (<1-4%) |
| HP:0004308 | Ventricular arrhythmia | Very rare (<1-4%) |
| HP:0005110 | Atrial fibrillation | Very rare (<1-4%) |
| HP:0011675 | Arrhythmia | Very rare (<1-4%) |
| HP:0030149 | Cardiogenic shock | Very rare (<1-4%) |
| HP:0100598 | Pulmonary edema | Very rare (<1-4%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | Tako-tsubo cardiomyopathy |
| Mondo ID | MONDO:0019018 |
| EFO | EFO:1002000 |
| MeSH | D054549 |
| Orphanet | 66529 |
| ICD-10-CM | I51.81 |
| ICD-11 | 478139552 |
| NCIT | C85181 |
| SNOMED CT | 441541008 |
| UMLS | C1739395 |
| MedGen | 366029 |
| GARD | 0009400 |
| NORD | 2006 |
| Is cancer (heuristic) | no |
Also known as: acute stress cardiomyopathy · ampulla cardiomyopathy · apical ballooning syndrome · ASC · ballooning cardiomyopathy · broken heart syndrome · broken-heart syndrome · left ventricular transient apical ballooning · stress cardiomyopathy · stress-induced cardiomyopathy · Tako tsubo syndrome · Tako-Tsubo syndrome · Takotsubo Cardiomyopathy · Takotsubo cardiomyopathy · Takotsubo syndrome · transient antero-apical dyskinesia · transient left ventricular apical ballooning syndrome
Data availability: 5 GWAS associations (1 study) · 2 cell lines.
Disease family
This is a subtype of cardiomyopathy. 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 › musculoskeletal system disorder › muscle tissue disorder › cardiomyopathy › Tako-tsubo cardiomyopathy
Related subtypes (11): Keshan disease, intrinsic cardiomyopathy, extrinsic cardiomyopathy, idiopathic cardiomyopathy, familial cardiomyopathy, non-compaction cardiomyopathy, Chagas cardiomyopathy, Uhl anomaly, cardiomyopathy due to anthracyclines, doxorubicin induced cardiomyopathy, autoimmune cardiomyopathy
Genetics & variants
GWAS landscape
5 GWAS associations across 1 studies. Top hits map to 3 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs12612435 | 5e-07 | UBBP1 - RN7SKP141 | T | 3.12 |
| rs7070797 | 2e-06 | LINC02625 | A | 2.74 |
| rs9392780 | 5e-06 | LY86-AS1 | G | 3.19 |
| rs13273616 | 6e-06 | PIWIL2 | C | 2.22 |
| rs1154275 | 9e-06 | LINC02042 - CD200R1L-AS1 | G | 2.09 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST004095 | Eitel I | 2017 | 96 | 0 | Genome-wide association study in takotsubo syndrome - Preliminary results and future directions. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 0 |
| Tier 2: splice/UTR | 0 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 5 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 5 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 0 |
| unknown | 0 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 3 |
| intergenic_variant | 2 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs12612435 | 2 | 136347972 | G>A,T | 0.32 | intergenic_variant | UBBP1 - RN7SKP141 | 5e-07 | Tier 4: intronic/intergenic |
| rs7070797 | 10 | 61792015 | G>A | 0.11 | intron_variant | LINC02625 | 2e-06 | Tier 4: intronic/intergenic |
| rs9392780 | 6 | 6405398 | T>C,G | 0.06 | intron_variant | LY86-AS1 | 5e-06 | Tier 4: intronic/intergenic |
| rs13273616 | 8 | 22333990 | G>A,C | 0.47 | intron_variant | PIWIL2 | 6e-06 | Tier 4: intronic/intergenic |
| rs1154275 | 3 | 112766375 | A>G,T | 0.43 | intergenic_variant | LINC02042 - CD200R1L-AS1 | 9e-06 | 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
Drugs indicated for this disease
No approved or late-stage (phase ≥3) drug is indicated for this disease; the following are in earlier-phase trials only.
Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Adenosine, Cyclosporine, Sodium Chloride.
Clinical trials & evidence
Clinical trials
Clinical trials: 59.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 53 |
| PHASE4 | 3 |
| PHASE2 | 2 |
| PHASE1/PHASE2 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT04666454 | PHASE4 | RECRUITING | BROKEN-SWEDEHEART- Optimized Pharmacological Treatment for Broken Heart (Takotsubo) Syndrome. |
| NCT06509074 | PHASE4 | NOT_YET_RECRUITING | Beta-Blockers in Takotsubo Syndrome Study |
| NCT01524861 | PHASE4 | COMPLETED | Sympathetic Heart Innervation in Patients With Tako-Tsubo Cardiomyopathy |
| NCT05946772 | PHASE2 | RECRUITING | Cyclosporine In Takotsubo Syndrome |
| NCT02867878 | PHASE2 | TERMINATED | Adenosin to Rapidly Reverse Left Ventricle Impairment in Takotsubo Syndrome |
| NCT05768542 | PHASE1/PHASE2 | COMPLETED | Sympathetic and Vascular Function in Takotsubo Syndrome |
| NCT03299569 | Not specified | RECRUITING | Establishing the Incidence of Tako-tsubo Cardiomyopathy in Scotland |
| NCT03324529 | Not specified | ACTIVE_NOT_RECRUITING | Autonomic Modulation in Takotsubo Syndrome |
| NCT03663348 | Not specified | RECRUITING | Registry of Patients With Takotsubo Syndrome |
| NCT03910569 | Not specified | RECRUITING | The Cedars-Sinai Smidt Heart Institute Takotsubo Registry & Proteomic Study |
| NCT04361994 | Not specified | RECRUITING | The GErman Italian Spanish Takotsubo (GEIST) Registry |
| NCT04513054 | Not specified | RECRUITING | Is There a Genetic Predisposition for Acute Stress-induced (Takotsubo) Cardiomyopathy |
| NCT04634487 | Not specified | RECRUITING | Polish Registry of Takotsubo Syndrome |
| NCT05731830 | Not specified | RECRUITING | Takotsubo Syndrome and Air Pollution |
| NCT05793008 | Not specified | RECRUITING | Characterization of priMary And sEcondary STress Related takOtsubo |
| NCT05977049 | Not specified | RECRUITING | Psychosocial Support for Patients With Takotsubo Syndrome |
| NCT06277297 | Not specified | RECRUITING | Prognotic Role of CMR in Takotsubo Syndrome |
| NCT06332859 | Not specified | RECRUITING | Effectiveness of a Resilience-Based Rehabilitation Program for Patients with Coronary Heart Disease |
| NCT06409585 | Not specified | RECRUITING | Cardiomyopathies and Heart Muscle Diseases: Cardiac Imaging in the Evaluation of Myocardial Fibrosis Transition |
| NCT06506071 | Not specified | RECRUITING | Characterization of Acute Myocardial Damage With Spectral Computed Tomography. (CADAMI-SPECTRAL) |
| NCT06597331 | Not specified | RECRUITING | Cardiac Assessment and Takotsubo-stunning Among COPD-exacerbations In-Hospital |
| NCT06643949 | Not specified | ACTIVE_NOT_RECRUITING | Italian Multicenter Observational Registry on Takostubo Syndrome |
| NCT06669962 | Not specified | RECRUITING | Characterisation of the Biochemical Profile and Physiology of the Coronary Circulation in Takotsubo Syndrome |
| NCT06954103 | Not specified | RECRUITING | Mechanisms And Prognosis of Stroke-Heart Syndrome |
| NCT07077304 | Not specified | NOT_YET_RECRUITING | EACVI Study on Multimodality Cardiovascular Imaging of Inflammatory Cardiovascular Diseases |
| NCT07491718 | Not specified | RECRUITING | Manganese-enhanced Magnetic Resonance Imaging in Takotsubo Cardiomyopathy |
| NCT07604467 | Not specified | RECRUITING | The Role of CD34+ Stem Cells in the Pathogenesis of Takotsubo Syndrome |
| NCT00123695 | Not specified | UNKNOWN | Serial Echocardiography After Subarachnoid Hemorrhage |
| NCT00586183 | Not specified | COMPLETED | Cardiac Sympathetic Activity in Patients With the Apical Ballooning Syndrome |
| NCT00975559 | Not specified | COMPLETED | The Relationship Between the Response to Mental Stress and Vascular Endothelial Function |
| NCT01249599 | Not specified | COMPLETED | Stress-induced Vascular Dysfunction: Evaluation of Endothelial Function in a Cohort of Patients With Takotsubo Syndrome |
| NCT01252004 | Not specified | COMPLETED | French Observatory Syndromes Tako-Tsubo |
| NCT01432626 | Not specified | COMPLETED | Pathogenesis of Stress-Induced Cardiomyopathy by I-123 MIBG |
| NCT01520610 | Not specified | COMPLETED | TAKO-TSUBO Cardiomyopathy and Genetic |
| NCT01885975 | Not specified | COMPLETED | Personality Profile of Patients With Apical Ballooning Syndrome |
| NCT01944826 | Not specified | UNKNOWN | The TAKO-TSUBO And Cancer Registry |
| NCT01947621 | Not specified | UNKNOWN | International Takotsubo Registry (InterTAK Registry) |
| NCT02240056 | Not specified | COMPLETED | Brain fMRT In Takotsubo Cardiomyopathy |
| NCT02307214 | Not specified | COMPLETED | Tako-Tsubo Cardiomyopathy and Cardiac Syndrome X: New Insights Into the Pathophysiology |
| NCT02361073 | Not specified | UNKNOWN | The Role of Emotional Stress in Patients With Stress-induced Cardiomyopathy |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| BISOPROLOL | 4 | 3 |
| ADENOSINE | 4 | 2 |
| METOPROLOL | 4 | 2 |
| DIPYRIDAMOLE | 4 | 1 |
| LEVOCARNITINE | 4 | 1 |
| SACUBITRIL | 4 | 1 |
| CARNITINE | 3 | 1 |
| LIPOIC ACID, ALPHA | 3 | 1 |
| CHEMBL606298 | 0 | 2 |