Tako-tsubo cardiomyopathy

disease
On 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:

TypeClassValueGeographyValidation
Annual incidence1-9 / 100 0002.98FranceValidated

Signs & symptoms

Clinical features (HPO)

37 HPO clinical features (Orphanet curated; top 37 by frequency):

HPO IDTermFrequency
HP:0012663Mildly reduced ejection fractionVery frequent (80-99%)
HP:0010872T-wave inversionFrequent (30-79%)
HP:0012251ST segment elevationFrequent (30-79%)
HP:0031483Reduced contraction of the left ventricular apexFrequent (30-79%)
HP:0100749Chest painFrequent (30-79%)
HP:0410174Increased troponin T level in bloodFrequent (30-79%)
HP:0000822HypertensionOccasional (5-29%)
HP:0001513ObesityOccasional (5-29%)
HP:0001657Prolonged QT intervalOccasional (5-29%)
HP:0001681Angina pectorisOccasional (5-29%)
HP:0001962PalpitationsOccasional (5-29%)
HP:0002013VomitingOccasional (5-29%)
HP:0002094DyspneaOccasional (5-29%)
HP:0002615HypotensionOccasional (5-29%)
HP:0005184Prolonged QTc intervalOccasional (5-29%)
HP:0006698Dilatation of the ventricular cavityOccasional (5-29%)
HP:0008180Mildly elevated creatine kinaseOccasional (5-29%)
HP:0009805Low-output congestive heart failureOccasional (5-29%)
HP:0012250ST segment depressionOccasional (5-29%)
HP:0025077Decreased QRS voltageOccasional (5-29%)
HP:0031138Abnormal B-type natriuretic peptide levelOccasional (5-29%)
HP:6001073Left ventricular apical dyskinesisOccasional (5-29%)
HP:0001677Coronaryartery atherosclerosisExcluded (0%)
HP:0005145Coronary artery stenosisExcluded (0%)
HP:0006704Abnormal coronary artery morphologyExcluded (0%)
HP:0012819MyocarditisExcluded (0%)
HP:0001250SeizureVery rare (<1-4%)
HP:0001279SyncopeVery rare (<1-4%)
HP:0001653Mitral regurgitationVery rare (<1-4%)
HP:0001662BradycardiaVery rare (<1-4%)
HP:0001663Ventricular fibrillationVery rare (<1-4%)
HP:0001727Thromboembolic strokeVery rare (<1-4%)
HP:0004308Ventricular arrhythmiaVery rare (<1-4%)
HP:0005110Atrial fibrillationVery rare (<1-4%)
HP:0011675ArrhythmiaVery rare (<1-4%)
HP:0030149Cardiogenic shockVery rare (<1-4%)
HP:0100598Pulmonary edemaVery rare (<1-4%)

Identifiers

Disease identifiers

FieldValue
Canonical nameTako-tsubo cardiomyopathy
Mondo IDMONDO:0019018
EFOEFO:1002000
MeSHD054549
Orphanet66529
ICD-10-CMI51.81
ICD-11478139552
NCITC85181
SNOMED CT441541008
UMLSC1739395
MedGen366029
GARD0009400
NORD2006
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 disordermuscle tissue disordercardiomyopathyTako-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

rsIDp-valueGeneRisk alleleOdds ratio
rs126124355e-07UBBP1 - RN7SKP141T3.12
rs70707972e-06LINC02625A2.74
rs93927805e-06LY86-AS1G3.19
rs132736166e-06PIWIL2C2.22
rs11542759e-06LINC02042 - CD200R1L-AS1G2.09

Top studies (by case count)

StudyLead authorYearCasesControlsTitle
GCST004095Eitel I2017960Genome-wide association study in takotsubo syndrome - Preliminary results and future directions.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

TierVariants
Tier 1: coding0
Tier 2: splice/UTR0
Tier 3: regulatory0
Tier 4: intronic/intergenic5

MAF distribution

BucketVariants
common (>=0.05)5
low_freq (0.01-0.05)0
rare (<0.01)0
unknown0

Functional consequences

ConsequenceCount
intron_variant3
intergenic_variant2

Top variants

rsIDChrPosAllelesMAFConsequenceGenep-valueTier
rs126124352136347972G>A,T0.32intergenic_variantUBBP1 - RN7SKP1415e-07Tier 4: intronic/intergenic
rs70707971061792015G>A0.11intron_variantLINC026252e-06Tier 4: intronic/intergenic
rs939278066405398T>C,G0.06intron_variantLY86-AS15e-06Tier 4: intronic/intergenic
rs13273616822333990G>A,C0.47intron_variantPIWIL26e-06Tier 4: intronic/intergenic
rs11542753112766375A>G,T0.43intergenic_variantLINC02042 - CD200R1L-AS19e-06Tier 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)

PhaseTrials
Not specified53
PHASE43
PHASE22
PHASE1/PHASE21

Top trials by phase / activity

NCTPhaseStatusTitle
NCT04666454PHASE4RECRUITINGBROKEN-SWEDEHEART- Optimized Pharmacological Treatment for Broken Heart (Takotsubo) Syndrome.
NCT06509074PHASE4NOT_YET_RECRUITINGBeta-Blockers in Takotsubo Syndrome Study
NCT01524861PHASE4COMPLETEDSympathetic Heart Innervation in Patients With Tako-Tsubo Cardiomyopathy
NCT05946772PHASE2RECRUITINGCyclosporine In Takotsubo Syndrome
NCT02867878PHASE2TERMINATEDAdenosin to Rapidly Reverse Left Ventricle Impairment in Takotsubo Syndrome
NCT05768542PHASE1/PHASE2COMPLETEDSympathetic and Vascular Function in Takotsubo Syndrome
NCT03299569Not specifiedRECRUITINGEstablishing the Incidence of Tako-tsubo Cardiomyopathy in Scotland
NCT03324529Not specifiedACTIVE_NOT_RECRUITINGAutonomic Modulation in Takotsubo Syndrome
NCT03663348Not specifiedRECRUITINGRegistry of Patients With Takotsubo Syndrome
NCT03910569Not specifiedRECRUITINGThe Cedars-Sinai Smidt Heart Institute Takotsubo Registry & Proteomic Study
NCT04361994Not specifiedRECRUITINGThe GErman Italian Spanish Takotsubo (GEIST) Registry
NCT04513054Not specifiedRECRUITINGIs There a Genetic Predisposition for Acute Stress-induced (Takotsubo) Cardiomyopathy
NCT04634487Not specifiedRECRUITINGPolish Registry of Takotsubo Syndrome
NCT05731830Not specifiedRECRUITINGTakotsubo Syndrome and Air Pollution
NCT05793008Not specifiedRECRUITINGCharacterization of priMary And sEcondary STress Related takOtsubo
NCT05977049Not specifiedRECRUITINGPsychosocial Support for Patients With Takotsubo Syndrome
NCT06277297Not specifiedRECRUITINGPrognotic Role of CMR in Takotsubo Syndrome
NCT06332859Not specifiedRECRUITINGEffectiveness of a Resilience-Based Rehabilitation Program for Patients with Coronary Heart Disease
NCT06409585Not specifiedRECRUITINGCardiomyopathies and Heart Muscle Diseases: Cardiac Imaging in the Evaluation of Myocardial Fibrosis Transition
NCT06506071Not specifiedRECRUITINGCharacterization of Acute Myocardial Damage With Spectral Computed Tomography. (CADAMI-SPECTRAL)
NCT06597331Not specifiedRECRUITINGCardiac Assessment and Takotsubo-stunning Among COPD-exacerbations In-Hospital
NCT06643949Not specifiedACTIVE_NOT_RECRUITINGItalian Multicenter Observational Registry on Takostubo Syndrome
NCT06669962Not specifiedRECRUITINGCharacterisation of the Biochemical Profile and Physiology of the Coronary Circulation in Takotsubo Syndrome
NCT06954103Not specifiedRECRUITINGMechanisms And Prognosis of Stroke-Heart Syndrome
NCT07077304Not specifiedNOT_YET_RECRUITINGEACVI Study on Multimodality Cardiovascular Imaging of Inflammatory Cardiovascular Diseases
NCT07491718Not specifiedRECRUITINGManganese-enhanced Magnetic Resonance Imaging in Takotsubo Cardiomyopathy
NCT07604467Not specifiedRECRUITINGThe Role of CD34+ Stem Cells in the Pathogenesis of Takotsubo Syndrome
NCT00123695Not specifiedUNKNOWNSerial Echocardiography After Subarachnoid Hemorrhage
NCT00586183Not specifiedCOMPLETEDCardiac Sympathetic Activity in Patients With the Apical Ballooning Syndrome
NCT00975559Not specifiedCOMPLETEDThe Relationship Between the Response to Mental Stress and Vascular Endothelial Function
NCT01249599Not specifiedCOMPLETEDStress-induced Vascular Dysfunction: Evaluation of Endothelial Function in a Cohort of Patients With Takotsubo Syndrome
NCT01252004Not specifiedCOMPLETEDFrench Observatory Syndromes Tako-Tsubo
NCT01432626Not specifiedCOMPLETEDPathogenesis of Stress-Induced Cardiomyopathy by I-123 MIBG
NCT01520610Not specifiedCOMPLETEDTAKO-TSUBO Cardiomyopathy and Genetic
NCT01885975Not specifiedCOMPLETEDPersonality Profile of Patients With Apical Ballooning Syndrome
NCT01944826Not specifiedUNKNOWNThe TAKO-TSUBO And Cancer Registry
NCT01947621Not specifiedUNKNOWNInternational Takotsubo Registry (InterTAK Registry)
NCT02240056Not specifiedCOMPLETEDBrain fMRT In Takotsubo Cardiomyopathy
NCT02307214Not specifiedCOMPLETEDTako-Tsubo Cardiomyopathy and Cardiac Syndrome X: New Insights Into the Pathophysiology
NCT02361073Not specifiedUNKNOWNThe Role of Emotional Stress in Patients With Stress-induced Cardiomyopathy

Drugs tested across these trials (top 30)

MoleculeMax phaseTrials referencing
BISOPROLOL43
ADENOSINE42
METOPROLOL42
DIPYRIDAMOLE41
LEVOCARNITINE41
SACUBITRIL41
CARNITINE31
LIPOIC ACID, ALPHA31
CHEMBL60629802