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Phenotype profile

cardiomyopathy

HP:0001638 · SaudiVarKB evidence summary derived from retained literature mentions.

618Phenotype mentions
100Publications
50Associated gene records
50Associated variant records

Associated gene records

Co-mentioned in the same publications
GeneIdentifier / contextArticlesMentions
SIRT1HGNC:1492955
MYH7HGNC:757755
DSPHGNC:305255
SCN5AHGNC:1059355
ACADVLHGNC:9244
NLRP3HGNC:1640044
MYBPC3HGNC:755144
GLAHGNC:429644
LMNAHGNC:663644
ALMS1HGNC:42844
TLR4HGNC:1185044
TTRHGNC:1240533
EPG5HGNC:2933133
ELAC2HGNC:1419833
FBXO32HGNC:1673133
FLNCHGNC:375633
MYL2HGNC:758333
CD163HGNC:163133
TNFHGNC:1189222
PRKAG2HGNC:938622
STAT3HGNC:1136422
PGM1HGNC:890522
NRAPHGNC:798822
BRAFHGNC:109722
ATP7AHGNC:86922
TPM1HGNC:1201022
FBXL4HGNC:1360122
TNNI3KHGNC:1966122
PARS2HGNC:3056322
SLMAPHGNC:1664322
FOXO1HGNC:381922
FHL1HGNC:370222
GRK5HGNC:454422
NDUFV1HGNC:771622
PKP2HGNC:902422
SLC22A5HGNC:1096922
NRASHGNC:798922
CD68HGNC:169322
GATA4HGNC:417322
HRASHGNC:517322
LIASHGNC:1642922
SIRT3HGNC:1493122
RAF1HGNC:982922
STRNHGNC:1142422
FLIIHGNC:375022
CPT1AHGNC:232811
CPT2HGNC:233011
HADHAHGNC:480111
HADHBHGNC:480311
SLC25A20HGNC:142111

Associated variant records

Co-mentioned in the same publications
VariantIdentifier / contextArticlesMentions
p.Glu510Glnp.Glu510Gln11
c.388C>Tc.388C>T11
c.2887G>Ac.2887G>A11
p.Gly963Argp.Gly963Arg11
c.966+3A>Gc.966+3A>G11
c.886+1219T>Gc.886+1219T>G11
c.1177dupc.1177dup11
R219HR219H11
c.2729C>Gc.2729C>G11
p.Ser910*p.Ser910*11
c.639G>Ac.639G>A11
p.Trp213Terp.Trp213Ter11
c.159delc.159del11
c.1402A>Gc.1402A>G11
IVS18IVS1811
c.4751T>Ac.4751T>A11
p.Gly3Argp.Gly3Arg11
p.Arg32936Hisp.Arg32936His11
p.D588Np.D588N11
p.R450Hp.R450H11
R450HR450H11
p.Asp1309Asnp.Asp1309Asn11
p.Glu924Lysp.Glu924Lys11
p.Glu768Lysp.Glu768Lys11
c.2302G>Ac.2302G>A11
V30MV30M11
T119MT119M11
V122IV122I11
p.Phe154Leup.Phe154Leu11
p.H166Rp.H166R11
p.Arg417*p.Arg417*11
p.Gln336Argp.Gln336Arg11
p.Gly243Argp.Gly243Arg11
IVS32IVS3211
p.P46Sp.P46S11
p.R2366Hp.R2366H11
c.482A>Gc.482A>G11
p.Y161Cp.Y161C11
IVS11IVS1111
-3148C>G-3148C>G11
rs4808793rs480879311
c.413T>Ac.413T>A11
p.Met138Lysp.Met138Lys11
V600EV600E11
c.1310A>Cc.1310A>C11
p.Glu437Alap.Glu437Ala11
c.134C>Ac.134C>A11
p.Ser45Xp.Ser45X11
c.65C>Ac.65C>A11
p.Ser22Terp.Ser22Ter11

Associated population records

Co-mentioned in the same publications
PopulationIdentifier / contextArticlesMentions
Saudi Arabia2424
Population record66
Population recordCohort 055
Saudi Arabia44
Population recordCohort 444
Population recordCohort 133
Saudi Arabia · Riyadh33
Population recordCohort 233
Population recordCohort 633
Population recordCohort 5033
Population recordCohort 322
Population recordCohort 1022
Population recordCohort 722
Population recordCohort 2322
Population recordCohort 4022
Population recordCohort 522
Population recordCohort 10222
Population recordCohort 1222
Population recordCohort 3022
Population recordCohort 6022
Saudi ArabiaCohort 10022
Population recordCohort 9722
Saudi Arabia · RiyadhCohort 1422
Population recordCohort 10122
Saudi ArabiaCohort 7222
Population recordCohort 4,18811
Population recordCohort 11411
Population recordCohort 1011
Population recordCohort 60111
Population recordCohort 2,06811
Population recordCohort 1111
Population recordCohort 91211
Population recordCohort 2111
Population recordCohort 5311
Population recordCohort 1611
Population recordCohort 5911
Population recordCohort 11211
Saudi ArabiaCohort 211
Population recordCohort 1211
Population recordCohort 8211
Population recordCohort 2611
Saudi ArabiaCohort 5011
Population recordCohort 11911
Saudi Arabia · Jeddah11
Population recordCohort 10011
Population recordCohort 6111
Population recordCohort 8311
Saudi Arabia · RiyadhCohort 1011
Population recordCohort 2811
Population recordCohort 811

Supporting publications

100 records
  1. 2026Lifestyle Intervention Improves Parasympathetic Activity in Hypertrophic Cardiomyopathy.American journal of lifestyle medicine1 mentions
  2. 2026Expanding the Potential of Gene Therapy for Duchenne Muscular Dystrophy.Current pharmaceutical design1 mentions
  3. 2026Reduced Penetrance and Variable Expression of Dilated Cardiomyopathy Associated With Homozygous Truncating Variants in NRAP Gene.Clinical genetics1 mentions
  4. 2026Chemo-/radiotherapy-induced cardiomyopathy: roles of mitochondria and endoplasmic reticulum.Strahlentherapie und Onkologie : Organ der Deutschen Rontgengesellschaft ... [et al]1 mentions
  5. 2026Advances in VT ablation for arrhythmogenic cardiomyopathy: evidence, mapping and ablation strategies, and predictive factors.Journal of interventional cardiac electrophysiology : an international journal of arrhythmias and pacing1 mentions
  6. 2026Mitral valve prolapse from childhood to adulthood: morphologic characteristics and mitral regurgitation development. A single-centre echocardiographic study.Acta cardiologica1 mentions
  7. 2026Carvacrol alleviates diabetic cardiomyopathy in rats: Targeting Cuproptosis pathway.Toxicology and applied pharmacology1 mentions
  8. 2026Circular RNAs as Biomarkers and Therapeutic Targets in Diabetic Cardiovascular Complications.Endocrinology, diabetes & metabolism1 mentions
  9. 2026NRF2-mediated anti-ferroptotic pathways in diabetic cardiomyopathy: Mechanistic insights, therapeutic advances, and challenges in cardiovascular protection.Current problems in cardiology1 mentions
  10. 2026Epitranscriptomic regulation in cardiovascula disease: mechanistic roles and clinical implications of m6A RNA methylation in cardiac pathophysiology.Current problems in cardiology1 mentions
  11. 2026Targeting the underlying immune mechanism of diabetes-induced myocardial dysfunction via modulation of SIRT-3/p53/TIGAR/PFKFB-3 and SIRT-3/NF-κB signaling pathways as a potential controlling strategy.Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie1 mentions
  12. 2026Efficacy and safety of hybrid cardiac telerehabilitation in patients with hypertrophic cardiomyopathy without left ventricular outflow tract obstruction and preserved ejection fraction: A randomized clinical trial.Kardiologia polska1 mentions
  13. 2026Giant Right Coronary Artery Aneurysm With Left Ventricular Fistula: A Rare Coronary Anomaly.JACC. Case reports1 mentions
  14. 2026Reappraising cardiac function with myocardial contraction fraction: normal values, disease detection, and prognostication.European heart journal. Cardiovascular Imaging1 mentions
  15. 2026Isolated transient ischemic dilation in hypertrophic cardiomyopathy: A positron emission tomography imaging paradox with preserved myocardial flow reserve.Journal of nuclear cardiology : official publication of the American Society of Nuclear Cardiology1 mentions
  16. 2026Electrocardiographic predictors of ventricular arrhythmic events in ICD recipients: signal beyond the left ventricular ejection fraction threshold.BMC cardiovascular disorders1 mentions
  17. 2026Internet of Medical Things Enabled Multimodal Framework: Deep Machine Learning for Chronic Cardiac Disease Prediction in Healthcare 5.0.Healthcare technology letters1 mentions
  18. 2026Total intravenous anesthesia for cardiac transplantation in a teenager with Becker muscular dystrophy: A case report.Saudi journal of anaesthesia1 mentions
  19. 2026Short-term outcomes of pediatric HeartMate 3 left ventricular assist device: single center experience.ESC heart failure1 mentions
  20. 2026WDR59 Is Mutated in Individuals With Autosomal Recessive Syndromic Dilated Cardiomyopathy.Clinical genetics1 mentions
  21. 2026Empagliflozin and platelet-rich plasma improve stanozolol induced cardiotoxicity by reducing NF-κB/P65, IL-1B and apoptosis.BMC pharmacology & toxicology1 mentions
  22. 2026Emerging Pharmacological Strategies for Cardiac Amyloidosis: A Qualitative Analysis of Interventional Clinical Trials Registered on ClinicalTrials.Gov.Journal of clinical medicine1 mentions
  23. 2026Oral Immunization with the C488A Live-Attenuated Mutant of Coxsackievirus B4E2 (CVB4E2) Induces Potent Immune Response and Protects Balb/c Mice Against Lethal Infection.Viruses1 mentions
  24. 2026Mesenchymal stem cell-conditioned media alleviates diabetic cardiomyopathy by modulating glycemic control, oxidative stress-induced injury and inflammation regulation.Journal of diabetes and metabolic disorders1 mentions
  25. 2026Metabolic therapy for cardiovascular diseases with propionyl L-carnitine.Canadian journal of physiology and pharmacology1 mentions
  26. 2026Anthracyclines and the Heart: A Double-edged Sword With Therapeutic Hopes.Journal of the Saudi Heart Association1 mentions
  27. 2026Trends in Cardiomyopathy and Atrial Fibrillation-Related Mortality Among US Adults, 1999-2024.Population health management1 mentions
  28. 2026Reversible Cardiomyopathy Induced by Adrenal Insufficiency: A Case Report.Cureus1 mentions
  29. 2026AI-Enabled Precision Echocardiography: Toward Personalized Cardiovascular Care.Diagnostics (Basel, Switzerland)1 mentions
  30. 2026Glycohypoxia: a hypothesis linking chronic hyperglycemia to functional hypoxia and diabetic complications in type 2 diabetes.Medical gas research1 mentions
  31. 2026The multifaceted nature of Friedreich ataxia: strategies for comprehensive patient care.Neurodegenerative disease management1 mentions
  32. 2026L-Methionine attenuates methotrexate-induced cardiotoxicity by modulating oxidative stress, inflammation, and dyslipidemia in rats.Toxicology reports1 mentions
  33. 2026Delonix regia flower extract protects against diabetic cardiac remodeling via modulating eNOS/NO/cGMP and NF-κB/iNOS/TNF-α trajectories.The Journal of pharmacy and pharmacology1 mentions
  34. 2026Left Ventricular Thrombus in Oncology Patients and Beyond: Imaging, Treatment Choices, and Duration.Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis1 mentions
  35. 2026Cardioprotective Role of 5,7,4'-Trimethoxy Flavanone Through PI3K/AKT-Nrf2 Signaling in Mice.Journal of biochemical and molecular toxicology1 mentions
  36. 2026Q fever endocarditis complicating biventricular failure: diagnostic and therapeutic insights from a case report and literature review.Frontiers in medicine1 mentions
  37. 2026Imaging Naxos disease and related cardiocutaneous syndromes: the NAXCARE multimodality approach.Hellenic journal of cardiology : HJC = Hellenike kardiologike epitheorese1 mentions
  38. 2026Erdheim-Chester Disease: A Rare Presentation With Atrial Flutter and Severe Sinus Node Dysfunction.JACC. Case reports1 mentions
  39. 2026Robotic-assisted biventricular durable assist device implantation: The first in human experience.The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation1 mentions
  40. 2026Fam-trastuzumab deruxtecan in a patient with metastatic human epidermal growth factor receptor 2-positive breast cancer and pre-existing cardiac failure: a case report.AME case reports1 mentions
  41. 2026Adult case of 17β-hydroxysteroid dehydrogenase type 10 (HSD10) deficiency due to the p. Arg130Cys mutation of the HSD17B10 gene: case report.AME case reports1 mentions
  42. 2026IGF-1 attenuates high fat diet-elicited cardiomyopathy via arachidylcarnitine-dependent suppression of ferroptosis and mitochondrial dysfunction.European journal of pharmacology1 mentions
  43. 2026Evaluating Artificial Intelligence-generated Patient Education Guides on Cardiomyopathies: A Cross-sectional Comparison of ChatGPT and DeepSeek Artificial Intelligence.Annals of African medicine1 mentions
  44. 2026Uncovering the gene variants in a global cohort of patients with unexplained increased left ventricular wall thickness using next-generation sequencing.BMC cardiovascular disorders1 mentions
  45. 2026Calcium Carbonate-Stabilized Nano-Caffeine Emulsion Attenuates Diabetic Cardiomyopathy via Antioxidant, Anti-Inflammatory, and Anti-Fibrotic Pathways in Type 2 Diabetic Rats with HPLC-Quantified Cardiac Caffeine Levels.International journal of nanomedicine1 mentions
  46. 2026MUC13-Associated Molecular Interactome in Pancreatic Cancer.Computational and structural biotechnology journal1 mentions
  47. 2026Efficacy and safety of mavacamten in non-obstructive hypertrophic cardiomyopathy: A systematic review and meta-analysis of randomized trials.International journal of cardiology. Heart & vasculature1 mentions
  48. 2026Metformin as a potential therapeutic agent in broken heart syndrome: Targeting AMPK-dependent cardio-protection and microvascular function.Molecular biology reports1 mentions
  49. 2026Exploring the mechanisms and management of sepsis-related cardiac dysfunction.Acta cardiologica1 mentions
  50. 2026Fatal Infantile Cardiomyopathy Associated with a Homozygous MYL2 c.413T>A (p.Met138Lys) Variant: A Case Expanding the Recessive MYL2 Phenotypic Spectrum.Genes1 mentions
  51. 2026Cardioprotective effects of 3-N-Butylphthalide in diabetic cardiomyopathy: focus on balanced mitochondrial dynamics and pyroptosis pathways.The Korean journal of physiology & pharmacology : official journal of the Korean Physiological Society and the Korean Society of Pharmacology1 mentions
  52. 2026PCSK9 as a Biomarker and Therapeutic Target for Anthracycline Cardiotoxicity Prevention: Recent Advancements and Future Perspectives.Cardiology in review1 mentions
  53. 2026Irisin mitigates diabetic cardiac damage and is associated with improved redox status and reduced p53/VCAM-1 mRNA expression in STZ-treated rats.Archives of biochemistry and biophysics1 mentions
  54. 2026Beyond Breathlessness Intensity: A Prospective Psychometric Validation of the Multidimensional Dyspnea Profile in Heart Failure with Reduced and Mildly Reduced Ejection Fraction.Journal of clinical medicine1 mentions
  55. 2026New Insights in Exercise for Arrhythmogenic Cardiomyopathy: A Narrative Review.CJC open1 mentions
  56. 2026Exploring the Role of Psychological Stress in TAKOTSUBO CARDIOMYOPATHY: The 'Broken Heart' Syndrome.Stress and health : journal of the International Society for the Investigation of Stress1 mentions
  57. 2026The Impact of L Arginine's Anti-Apoptotic, Anti-Inflammatory, and Anti-Fibrotic Effects in Modulating Diabetic Cardiomyopathy: The Role of microRNA-155b in the Diagnosis of Diabetic Cardiomyopathy.International journal of molecular sciences1 mentions
  58. 2026Circulating levels of growth differentiation factor-15 and its genetic variants -3148C>G (rs4808793) in pediatric cardiac patients.World journal of clinical pediatrics1 mentions
  59. 2026Management of Arrhythmias During Pregnancy in Africa.Saudi medical journal1 mentions
  60. 2026The Calmodulin/Striatin Interaction Is Enhanced in Diabetic Hearts and Defines Novel Signaling Clusters Implicated in Cardiac Remodeling.ACS omega1 mentions
  61. 2026Electrophysiological Substrate and Ablation Outcomes in Atrial Fibrillation With Hypertrophic Cardiomyopathy: A Propensity-Matched Multicenter Study.Journal of arrhythmia1 mentions
  62. 2026Leaflet Perforation as a Complication of Tricuspid Transcatheter Edge-to-Edge Repair.JACC. Case reports1 mentions
  63. 2026The International Thoracic Organ Transplant Registry of the International Society for Heart and Lung Transplantation: 2026 Adult Heart Transplantation: A Contemporary Analysis of Trends and Outcomes by Recipient Sex.The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation1 mentions
  64. 2026Clinical spectrum, cardiac phenotypes, and outcomes of FHL1-related cardiomyopathies: a systematic review.BMC cardiovascular disorders1 mentions
  65. 2026Clinical utility of left atrioventricular coupling index to define the response to cardiac resynchronization therapy.Medical ultrasonography1 mentions
  66. 2026Precision Cardiogenomics in Athletes.International journal of molecular sciences1 mentions
  67. 2026ZN002: A Novel Natural Product Small Molecule Inhibitor Targets the Coxsackie-Adenovirus Receptor (CAR) to Control Coxsackie B3 Viral Proliferation.Medicinal chemistry (Shariqah (United Arab Emirates))1 mentions
  68. 2026Long-Chain Fatty Acid Oxidation Disorder Genes: A Comprehensive Genetic Database of LC-FAOD Variants, Genotypes, and Phenotypes.Human mutation1 mentions
  69. 2026Long-Term Treatment With Emapalumab in an Adult Patient With Refractory Hemophagocytic Lymphohistiocytosis and Systemic Lupus Erythematosus: A Case Report.Case reports in hematology1 mentions
  70. 2026Psychometric Properties of the Arabic Version of the Heart Failure Somatic Perception Scale (HFSPS) in an Omani Sample.SAGE open nursing1 mentions
  71. 2025Choice of revascularization strategy for ischemic cardiomyopathy due to multivessel coronary disease.The Journal of thoracic and cardiovascular surgery1 mentions
  72. 2025Assessment for Diabetic Neuropathy: Treatment and Neurobiological Perspective.Current diabetes reviews1 mentions
  73. 2025Enhanced therapeutic efficacy of SERCA2a gene-modified adipose-derived mesenchymal stem cell exosomes in doxorubicin-induced cardiomyopathy in male albino rats.Folia morphologica1 mentions
  74. 2025Clinical and echocardiographic predictors of outcome in liver transplant patients.Monaldi archives for chest disease = Archivio Monaldi per le malattie del torace1 mentions
  75. 2025ME2 Deficiency Is Associated With Recessive Neurodevelopmental Disorder.Clinical genetics1 mentions
  76. 2025Role of biomarkers in early diagnosis and prognosis of cardiac amyloidosis: A systematic review and meta-analysis.Current problems in cardiology1 mentions
  77. 2025The enigmatic role of SIRT2 in the cardiovascular system: Deciphering its protective and detrimental actions to unlock new avenues for therapeutic intervention.Current problems in cardiology1 mentions
  78. 2025Advanced Cardiac Point-of-Care Ultrasound: A Systematic Review of Select Cardiac Diseases.The Medical clinics of North America1 mentions
  79. 2025HCM-Echo-VAR-Ensemble: Deep Ensemble Fusion to Detect Hypertrophic Cardiomyopathy in Echocardiograms.IEEE open journal of engineering in medicine and biology1 mentions
  80. 2025Targeting senescence and GATA4 in age-related cardiovascular disease: a comprehensive approach.Biogerontology1 mentions
  81. 2025First Case of Tracheobronchopathia Osteochondroplastica in an 82-Year-Old Patient From Saudi Arabia.Laryngoscope investigative otolaryngology1 mentions
  82. 2025Pregnancy Outcomes in Women with Low and Ultra-Low Ejection Fraction: A Retrospective Study in a Tertiary Care Center.Journal of clinical medicine1 mentions
  83. 2025"First-in-human" totally robotic orthotopic heart transplant.The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation1 mentions
  84. 2025Remodeling of the cardiac striatin interactome and its dynamics in the diabetic heart.Scientific reports1 mentions
  85. 2025Combinatorial approach to treat iron overload cardiomyopathy in pediatric patients with thalassemia-major: A systematic review and meta-analysis.World journal of cardiology1 mentions
  86. 2025Review Article--Exercise and Hypertrophic Cardiomyopathy: Risks, Benefits, and Safety - A Systematic Review and Meta-analysis.Journal of the Saudi Heart Association1 mentions
  87. 2025Genotype and cardiac outcome in patients with cardiocutaneous syndrome (Naxos disease variant: Carvajal syndrome).Orphanet journal of rare diseases1 mentions
  88. 2025Metformin-mediated protection against Immunosenescence in diabetic cardiomyopathy: The potential roles of GDF-15 and klotho proteins.International immunopharmacology1 mentions
  89. 2025A Multidimensional Approach to Understanding Genetic Diversity, Risk Stratification, and Personalized Interventions in Pediatric Hypertrophic Cardiomyopathy.Current problems in cardiology1 mentions
  90. 2025Mitochondrial complex I deficiency in a 4-year-old boy due to compound heterozygous NDUFV1 mutation: a case report of a new pathogenic variant.Oxford medical case reports1 mentions
  91. 2025Impact of Elevated Troponin Level at the Time of Sepsis Recognition on the Clinical Outcomes: A Propensity Score-Matched Cohort Study.Journal of the American Heart Association1 mentions
  92. 2025Dual-morphology Bundle Branch Re-entrant Ventricular Tachycardia in Non-dilated Cardiomyopathy.The Journal of innovations in cardiac rhythm management1 mentions
  93. 2025A Mendelian randomization analysis of cardiac MRI measurements as surrogate outcomes for heart failure and atrial fibrillation.Communications medicine1 mentions
  94. 2025Cardiac Magnetic Resonance Imaging and Coronary Computed Tomography Angiography in Cardiomyopathy: Diagnostic and Prognostic Insights.Echocardiography (Mount Kisco, N.Y.)1 mentions
  95. 2025Dual Treatment of Chronic Chagasic Cardiomyopathy and Parasitic Burden via Combination Nanotherapy.ACS nano1 mentions
  96. 2025Anthracycline-Induced Cardiomyopathy: Prevalence and Risk Factors Among Pediatric Cancer Patients in a Tertiary Care Center in Jeddah, Saudi Arabia.Cureus1 mentions
  97. 2025The Cardiovascular Magnetic Resonance Phenotype of Lamin Heart Disease.JACC. Cardiovascular imaging1 mentions
  98. 2025Phytochemical Analysis and Protective Effect of Desmodium gyrans DC in Doxorubicin-induced Cardiomyopathy and Isoproterenol-induced Myocardial Infarction.Chemistry & biodiversity1 mentions
  99. 2025Uncovering dendritic cell specific biomarkers for diagnosis and prognosis of cardiomyopathy using single cell RNA sequencing and comprehensive bioinformatics analysis.Scientific reports1 mentions
  100. 2025Unleashing the cardioprotective potential of berberine against doxorubicin cardiotoxicity: Innovative exploitation of the peculiar antipyroptotic/antioxidant/anti-inflammatory capacity via modulation of inflammasome/caspase-1/interleukin pathway in rats.International immunopharmacology1 mentions