MCID: HYP061
MIFTS: 58

Hypertrophic Cardiomyopathy

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Hypertrophic Cardiomyopathy

MalaCards integrated aliases for Hypertrophic Cardiomyopathy:

Name: Hypertrophic Cardiomyopathy 24 37 29 6 38 73
Cardiomyopathy, Hypertrophic, Familial 73

Classifications:



External Ids:

KEGG 37 H00292

Summaries for Hypertrophic Cardiomyopathy

MalaCards based summary : Hypertrophic Cardiomyopathy, also known as cardiomyopathy, hypertrophic, familial, is related to cardiomyopathy, familial hypertrophic, 1 and cardiomyopathy, familial hypertrophic, 6. An important gene associated with Hypertrophic Cardiomyopathy is TNNI3 (Troponin I3, Cardiac Type), and among its related pathways/superpathways are Hypertrophic cardiomyopathy (HCM) and Actin Nucleation by ARP-WASP Complex. The drugs Spironolactone and Ranolazine have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and brain, and related phenotypes are Increased shRNA abundance and cardiovascular system

Wikipedia : 76 Hypertrophic cardiomyopathy (HCM) is a condition in which a portion of the heart becomes thickened... more...

GeneReviews: NBK1768

Related Diseases for Hypertrophic Cardiomyopathy

Diseases in the Hypertrophic Cardiomyopathy family:

Cardiomyopathy, Familial Hypertrophic, 2 Cardiomyopathy, Familial Hypertrophic, 3
Cardiomyopathy, Familial Hypertrophic, 4 Cardiomyopathy, Familial Hypertrophic, 1
Cardiomyopathy, Infantile Hypertrophic Cardiomyopathy, Familial Hypertrophic, 6
Cardiomyopathy, Familial Hypertrophic, 25 Cardiomyopathy, Familial Hypertrophic, 8
Cardiomyopathy, Familial Hypertrophic, 10 Cardiomyopathy, Familial Hypertrophic, 11
Cardiomyopathy, Familial Hypertrophic, 12 Cardiomyopathy, Familial Hypertrophic, 13
Cardiomyopathy, Familial Hypertrophic, 14 Cardiomyopathy, Familial Hypertrophic, 15
Cardiomyopathy, Familial Hypertrophic, 7 Cardiomyopathy, Familial Hypertrophic, 9
Cardiomyopathy, Familial Hypertrophic, 16 Cardiomyopathy, Familial Hypertrophic, 17
Cardiomyopathy, Familial Hypertrophic, 18 Cardiomyopathy, Familial Hypertrophic, 19
Cardiomyopathy, Familial Hypertrophic, 20 Cardiomyopathy, Familial Hypertrophic, 21
Cardiomyopathy, Familial Hypertrophic, 26 Cardiomyopathy, Familial Hypertrophic 27
Hypertrophic Cardiomyopathy Due to Intensive Athletic Training

Diseases related to Hypertrophic Cardiomyopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 340)
# Related Disease Score Top Affiliating Genes
1 cardiomyopathy, familial hypertrophic, 1 33.8 ACTC1 CALR3 MYBPC3 MYH6 MYH7 MYL2
2 cardiomyopathy, familial hypertrophic, 6 33.7 PRKAG2 TNNI3
3 cardiomyopathy, familial hypertrophic, 4 33.3 MYBPC3 TTN
4 cardiac conduction defect 31.6 MYBPC3 MYH7 PLN
5 heart disease 31.1 ACTC1 MYBPC3 MYH6 MYH7 PTPN11 TNNI3
6 muscle hypertrophy 31.0 FHL1 MYH6 MYH7
7 cardiac arrest 30.9 MYBPC3 MYH7 PLN TNNT2
8 wolff-parkinson-white syndrome 30.9 MYH7 PRKAG2 TNNI3
9 left ventricular noncompaction 30.8 ACTC1 CSRP3 MYBPC3 MYH6 MYH7 TNNT2
10 congestive heart failure 30.7 MYH6 MYH7 PLN
11 atrial standstill 1 30.7 CSRP3 MYBPC3 MYH6 MYH7 MYL2 PLN
12 arrhythmogenic right ventricular cardiomyopathy 30.6 MYH7 PLN PRKAG2 TTN
13 atrial heart septal defect 30.5 ACTC1 MYH6 TNNI3
14 acute myocardial infarction 30.4 MYL3 TNNI3 TNNT2
15 dilated cardiomyopathy 30.3 ACTC1 ATP6V1G2-DDX39B CSRP3 MYBPC3 MYH6 MYH7
16 restrictive cardiomyopathy 30.2 ACTC1 MYBPC3 MYH7 MYL2 MYL3 TNNI3
17 peripartum cardiomyopathy 29.9 MYH7 TTN
18 fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex i deficiency 12.3
19 hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial dna mutation 12.3
20 hypertrophic cardiomyopathy due to intensive athletic training 12.2
21 congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome 12.2
22 lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy 12.2
23 combined oxidative phosphorylation deficiency 16 12.1
24 deafness, autosomal dominant 22 12.0
25 combined oxidative phosphorylation deficiency 10 12.0
26 cardiomyopathy, familial hypertrophic, 8 11.9
27 cardiomyopathy, familial hypertrophic, 10 11.9
28 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 11.9
29 cardiomyopathy, familial hypertrophic, 2 11.9
30 cardiomyopathy, familial hypertrophic, 3 11.9
31 cardiomyopathy, familial hypertrophic, 15 11.9
32 cardiomyopathy, familial hypertrophic, 9 11.9
33 cardiomyopathy, familial hypertrophic, 20 11.9
34 cardiomyopathy, infantile hypertrophic 11.8
35 cardiomyopathy, familial hypertrophic, 11 11.8
36 cardiomyopathy, familial hypertrophic, 12 11.8
37 cardiomyopathy, familial hypertrophic, 13 11.8
38 cardiomyopathy, familial hypertrophic, 14 11.8
39 cardiomyopathy, familial hypertrophic, 7 11.8
40 cardiomyopathy, familial hypertrophic, 16 11.8
41 cardiomyopathy, familial hypertrophic, 17 11.8
42 cardiomyopathy, familial hypertrophic, 18 11.8
43 cardiomyopathy, familial hypertrophic, 19 11.8
44 cardiomyopathy, familial hypertrophic, 21 11.8
45 sengers syndrome 11.8
46 cardiomyopathy, familial hypertrophic, 25 11.7
47 cardiomyopathy, familial hypertrophic, 26 11.7
48 costello syndrome 11.7
49 noonan syndrome 1 11.7
50 combined oxidative phosphorylation deficiency 8 11.6

Comorbidity relations with Hypertrophic Cardiomyopathy via Phenotypic Disease Network (PDN): (show all 16)


Active Peptic Ulcer Disease Acute Cystitis
Aortic Valve Disease 1 Bronchitis
Chronic Myocardial Ischemia Deficiency Anemia
Familial Atrial Fibrillation First-Degree Atrioventricular Block
Heart Disease Hypertension, Essential
Hypothyroidism Intermediate Coronary Syndrome
Ischemic Heart Disease Mitral Valve Disease
Respiratory Failure Sinoatrial Node Disease

Graphical network of the top 20 diseases related to Hypertrophic Cardiomyopathy:



Diseases related to Hypertrophic Cardiomyopathy

Symptoms & Phenotypes for Hypertrophic Cardiomyopathy

GenomeRNAi Phenotypes related to Hypertrophic Cardiomyopathy according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance GR00327-A 8.92 MYH6 PMPCA PTPN11 TNNI3

MGI Mouse Phenotypes related to Hypertrophic Cardiomyopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.77 ACTC1 CSRP3 FHL1 MYBPC3 MYH6 MYH7
2 muscle MP:0005369 9.44 ACTC1 CSRP3 FHL1 MYBPC3 MYH6 MYH7

Drugs & Therapeutics for Hypertrophic Cardiomyopathy

Drugs for Hypertrophic Cardiomyopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 104)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Spironolactone Approved Phase 4 52-01-7, 1952-01-7 5833
2
Ranolazine Approved, Investigational Phase 4 142387-99-3, 95635-55-5 56959
3
Regadenoson Approved, Investigational Phase 4,Not Applicable 313348-27-5 219024
4
Dobutamine Approved Phase 4,Not Applicable 34368-04-2 36811
5
Adenosine Approved, Investigational Phase 4 58-61-7 60961
6 Diuretics, Potassium Sparing Phase 4,Not Applicable
7 Natriuretic Agents Phase 4
8 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
9 Hormone Antagonists Phase 4
10 Mineralocorticoids Phase 4
11 Hormones Phase 4
12 diuretics Phase 4
13 Mineralocorticoid Receptor Antagonists Phase 4
14 carnitine Phase 4,Phase 2
15 Sodium Channel Blockers Phase 4,Not Applicable
16 Vasodilator Agents Phase 4,Phase 2,Phase 3,Not Applicable
17 Anti-Arrhythmia Agents Phase 4,Phase 3,Phase 2,Not Applicable
18 Analgesics Phase 4,Phase 2
19 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Not Applicable
20 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Not Applicable
21 Adrenergic beta-Agonists Phase 4,Not Applicable
22 Adrenergic Agonists Phase 4,Not Applicable
23 Adrenergic Agents Phase 4,Phase 3,Phase 2,Not Applicable
24 Sympathomimetics Phase 4,Not Applicable
25 Cardiotonic Agents Phase 4,Not Applicable
26 Autonomic Agents Phase 4,Phase 3,Phase 2,Not Applicable
27 Protective Agents Phase 4,Phase 1,Not Applicable
28
Angiotensin II Approved, Investigational Phase 3,Phase 2 11128-99-7, 68521-88-0, 4474-91-3 172198 65143
29
Diltiazem Approved, Investigational Phase 2, Phase 3 42399-41-7 39186
30
Amiodarone Approved, Investigational Phase 3 1951-25-3 2157
31
Losartan Approved Phase 3,Phase 2 114798-26-4 3961
32
Atenolol Approved Phase 3 29122-68-7 2249
33
Perhexiline Approved, Investigational Phase 3,Phase 2 6621-47-2 4746
34 Antihypertensive Agents Phase 2, Phase 3,Phase 3,Not Applicable
35 Angiotensin Receptor Antagonists Phase 3,Phase 2
36 Angiotensin II Type 1 Receptor Blockers Phase 3,Phase 2
37 Angiotensinogen Phase 3,Phase 2
38 Calcium, Dietary Phase 2, Phase 3,Phase 3,Not Applicable
39 calcium channel blockers Phase 2, Phase 3,Phase 3,Not Applicable
40 Atorvastatin Calcium Phase 3 134523-03-8
41 Anticholesteremic Agents Phase 3
42 Antimetabolites Phase 3
43 Hypolipidemic Agents Phase 3
44 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
45 Lipid Regulating Agents Phase 3
46 Adrenergic beta-Antagonists Phase 3,Phase 2
47 Adrenergic beta-1 Receptor Antagonists Phase 3,Phase 2
48 Sympatholytics Phase 3,Phase 2
49 Adrenergic Antagonists Phase 3,Phase 2
50
Trimetazidine Approved, Investigational Phase 2 5011-34-7

Interventional clinical trials:

(show top 50) (show all 153)
# Name Status NCT ID Phase Drugs
1 Clinical and Therapeutic Implications of Fibrosis in Hypertrophic Cardiomyopathy Unknown status NCT00879060 Phase 4 spironolactone
2 Identification of Carnitine-Responsive Cardiomyopathy Unknown status NCT01904396 Phase 4 Carnitine
3 Ranolazine for the Treatment of Chest Pain in HCM Patients Completed NCT01721967 Phase 4 Ranolazine
4 Microvascular Dysfunction in Nonischemic Cardiomyopathy: Insights From CMR Assessment of Coronary Flow Reserve Recruiting NCT03249272 Phase 4 Regadenoson;Adenosine
5 Evaluating the Effect of Spironolactone on Hypertrophic Cardiomyopathy Not yet recruiting NCT02948998 Phase 4 Spironolactone
6 The Effects of Dobutamine on Postoperative Cardiac Function in Aortic Valve Replacement Suspended NCT01375335 Phase 4 Dobutamine
7 Diastolic Ventricular Interaction and the Effects of Biventricular Pacing in Hypertrophic Cardiomyopathy Unknown status NCT00698074 Phase 3
8 Treatment of Preclinical Hypertrophic Cardiomyopathy With Diltiazem Completed NCT00319982 Phase 2, Phase 3 Diltiazem;Placebo
9 Antiarrhythmic Therapy Versus Catheter Ablation for Atrial Fibrillation in Hypertrophic Cardiomyopathy Completed NCT00821353 Phase 3 Antiarrhythmic drugs
10 Study to Determine if Atorvastatin Reduces Size and Stiffness of Muscle in the Left Ventricle of the Heart Completed NCT00317967 Phase 3 Atorvastatin;Placebo
11 Effects of Losartan Versus Atenolol on Aortic and Cardiac Muscle Stiffness in Adults With Marfan Syndrome Completed NCT00723801 Phase 3 Atenolol;Losartan
12 Clinical Study to Evaluate Mavacamten (MYK-461) in Adults With Symptomatic Obstructive Hypertrophic Cardiomyopathy Recruiting NCT03470545 Phase 3 mavacamten;Placebo
13 A Long-Term Safety Extension Study of Mavacamten in Adults Who Have Completed MAVERICK-HCM or EXPLORER-HCM Enrolling by invitation NCT03723655 Phase 2, Phase 3 mavacamten
14 Effect of Eleclazine (GS-6615) on Exercise Capacity in Subjects With Symptomatic Hypertrophic Cardiomyopathy Terminated NCT02291237 Phase 2, Phase 3 Eleclazine;Placebo
15 Efficacy, Safety, and Tolerability of Perhexiline in Subjects With Hypertrophic Cardiomyopathy and Heart Failure Withdrawn NCT02431221 Phase 3 Perhexiline;Placebo
16 Trimetazidine Therapy in Hypertrophic Cardiomyopathy Unknown status NCT01696370 Phase 2 Trimetazidine
17 CHANCE - Candesartan in Hypertrophic Cardiomyopathy Unknown status NCT00430833 Phase 2 candesartan
18 Perhexiline Therapy in Patients With Hypertrophic Cardiomyopathy Completed NCT00500552 Phase 2 Perhexiline/Placebo
19 Inhibition of the Renin Angiotensin System With Losartan in Patients With Hypertrophic Cardiomyopathy Completed NCT01447654 Phase 2 Losartan;Placebo
20 Effect of Losartan in Patients With Nonobstructive Hypertrophic Cardiomyopathy Completed NCT01150461 Phase 2 losartan;placebo
21 Pirfenidone to Treat Hypertrophic Cardiomyopathy Completed NCT00011076 Phase 2 Pirfenidone
22 Alcohol Septal Ablation in Obstructive Hypertrophic Cardiomyopathy: A Pilot Study Completed NCT00035386 Phase 2
23 A Comparison of Two Treatments: Pacemaker and Percutaneous Transluminal Septal Ablation for Hypertrophic Cardiomyopathy Completed NCT00001894 Phase 2
24 Hypertrophic Cardiomyopathy Symptom Release by BX1514M Completed NCT02590809 Phase 2 Treatment BX1514M;Placebo
25 Studying the Effectiveness of Pacemaker Therapy in Children Who Have Thickened Heart Muscle Completed NCT00001960 Phase 2
26 A Phase 2 Open-label Pilot Study Evaluating MYK-461 in Subjects With Symptomatic Hypertrophic Cardiomyopathy and Left Ventricular Outflow Tract Obstruction Completed NCT02842242 Phase 2 MYK-461
27 Cyclosporine A to Treat Hypertrophic Cardiomyopathy (HCM) Completed NCT00001965 Phase 2 Cyclosporine A
28 Study of Blood Flow in Heart Muscle Completed NCT00001631 Phase 2
29 Extension Study of Mavacamten (MYK-461) in Adults With Symptomatic Obstructive Hypertrophic Cardiomyopathy Previously Enrolled in PIONEER Recruiting NCT03496168 Phase 2 mavacamten
30 A Phase 2 Study of Mavacamten in Adults With Symptomatic Non-Obstructive Hypertrophic Cardiomyopathy (nHCM) Recruiting NCT03442764 Phase 2 mavacamten;Placebo
31 CArdiac Desynchronization In Obstructive HCM, CARDIO-HCM Recruiting NCT01332162 Phase 2
32 The Effect of Metoprolol in Patients With Hypertrophic Obstructive Cardiomyopathy. Recruiting NCT03532802 Phase 2 Metoprolol Succinate;Placebo oral capsule
33 Renal Nerve Stimulation and Renal Denervation in Patients With Sympathetic Ventricular Arrhythmias Recruiting NCT02856373 Phase 2
34 Valsartan for Attenuating Disease Evolution In Early Sarcomeric HCM Active, not recruiting NCT01912534 Phase 2 Valsartan;Placebo
35 Open-Label Study of Perhexiline in Patients With Hypertrophic Cardiomyopathy and Moderate to Severe Heart Failure Terminated NCT02862600 Phase 2 Perhexiline
36 Study to Develop a Non-invasive Marker for Monitoring Myocardial Fibrosis Terminated NCT01230918 Phase 2
37 Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of MEK162 in Noonan Syndrome Hypertrophic Cardiomyopathy Withdrawn NCT01556568 Phase 2 MEK162
38 Biventricular Pacing in Hypertrophic Cardiomyopathy Unknown status NCT00504647 Phase 1
39 Natural History and Results of Dual Chamber (DDD) Pacemaker Therapy of Children With Obstructive Hypertrophic Cardiomyop... Completed NCT00001396 Phase 1
40 Study Evaluating the Safety, Tolerability and Preliminary Pharmacokinetics and Pharmacodynamics of MYK-461 Completed NCT02329184 Phase 1 MYK-461
41 Hypertrophic Regression With N-Acetylcysteine in HCM Completed NCT01537926 Phase 1 N-acetylcysteine;Placebo
42 Single Ascending Dose Study of MYK-461 in Healthy Volunteers Completed NCT02356289 Phase 1 Placebo;MYK-461
43 Nitrite in Hypertrophic Cardiomyopathy (HCM) Study Recruiting NCT03251287 Phase 1 Sodium Nitrate;Placebo
44 A Single and Multiple Ascending Dose Study of CK-3773274 in Healthy Adult Subjects Recruiting NCT03767855 Phase 1 CK-3773274;Placebo
45 Metabolic Imaging of the Heart Using Hyperpolarized (13C) Pyruvate Injection Recruiting NCT02648009 Phase 1 Hyperpolarized (13) Pyruvate Injection
46 Cut Your Blood Pressure 3 Recruiting NCT03726710 Phase 1
47 New Diagnostic Strategy in Hypertrophic Cardiomyopathy Unknown status NCT02520856
48 Morbidity and Mortality in Patients With Hypertrophic Cardiomyopathy: a CALIBER Study Unknown status NCT02424994
49 Hyper-synchronicity in Hypertrophic Cardiomyopathy (HCM) : Description, Mechanism and Origin With a Multi-imaging Approach to Predict Dual Chamber Pacing Response Unknown status NCT02559726 Not Applicable
50 Comparison of Data Obtained by Echocardiography and Magnetic Resonance Imaging in Hypertrophic Cardiomyopathy Unknown status NCT00315783

Search NIH Clinical Center for Hypertrophic Cardiomyopathy

Genetic Tests for Hypertrophic Cardiomyopathy

Genetic tests related to Hypertrophic Cardiomyopathy:

# Genetic test Affiliating Genes
1 Hypertrophic Cardiomyopathy 29

Anatomical Context for Hypertrophic Cardiomyopathy

MalaCards organs/tissues related to Hypertrophic Cardiomyopathy:

41
Heart, Testes, Brain, Skeletal Muscle, Kidney, Liver, Thyroid

Publications for Hypertrophic Cardiomyopathy

Articles related to Hypertrophic Cardiomyopathy:

(show top 50) (show all 2646)
# Title Authors Year
1
Exercise testing in hypertrophic cardiomyopathy: A pathophysiological goldmine with protean clinical implications. ( 30228019 )
2019
2
Influence of centre expertise on the diagnosis and management of hypertrophic cardiomyopathy: A study from the French register of hypertrophic cardiomyopathy (REMY). ( 30316646 )
2019
3
Sudden Cardiac Death and Ventricular Arrhythmias in Hypertrophic Cardiomyopathy. ( 30392982 )
2019
4
Historical Perspectives in the Evolution of Hypertrophic Cardiomyopathy. ( 30447709 )
2019
5
Echocardiography in the Diagnosis and Management of Hypertrophic Cardiomyopathy. ( 30447711 )
2019
6
Novel Pharmacotherapy for Hypertrophic Cardiomyopathy. ( 30447712 )
2019
7
Genetic Testing and Counseling for Hypertrophic Cardiomyopathy. ( 30447714 )
2019
8
Lifestyle Modification and Medical Management of Hypertrophic Cardiomyopathy. ( 30447715 )
2019
9
Hypertrophic Cardiomyopathy: Mastering the Multiple Facets of a Complex Disease. ( 30447721 )
2019
10
Exercise hemodynamics in hypertrophic cardiomyopathy identify risk of incident heart failure but not ventricular arrhythmias or sudden cardiac death. ( 30075967 )
2019
11
Programmed ventricular stimulation predicts arrhythmic events and survival in hypertrophic cardiomyopathy. ( 29407088 )
2018
12
Genetic variation at the long noncoding RNA H19 gene is associated with the risk of hypertrophic cardiomyopathy. ( 29962225 )
2018
13
Rest and Stress Longitudinal Systolic Left Ventricular Mechanics in Hypertrophic Cardiomyopathy: Implications for Prognostication. ( 29426649 )
2018
14
Prognosis of adult obstructive hypertrophic cardiomyopathy patients with different morphological types after surgical myectomy. ( 29444294 )
2018
15
Usefulness of Red Blood Cell Distribution Width to Predict Heart Failure Hospitalization in Patients with Hypertrophic Cardiomyopathy. ( 29877309 )
2018
16
Autonomic cardiovascular control and cardiac arrhythmia in two pregnant women with hypertrophic cardiomyopathy: Insights from ICD monitoring. ( 29678624 )
2018
17
CaMKII-mediated phosphorylation of RyR2 plays a crucial role in aberrant Ca<sup>2+</sup>release as an arrhythmogenic substrate in cardiac troponin T-related familial hypertrophic cardiomyopathy. ( 29402414 )
2018
18
Investigation of myocardial dysfunction using three-dimensional speckle tracking echocardiography in a genetic positive hypertrophic cardiomyopathy Chinese family. ( 29978770 )
2018
19
Implantable cardioverter defibrillators in the context of hypertrophic cardiomyopathy: a lesson in patient autonomy. ( 29437742 )
2018
20
Late Gadolinium Enhancement for Prediction of Mutation-Positive Hypertrophic Cardiomyopathy on the Basis of Panel-Wide Sequencing. ( 29398688 )
2018
21
Prognostic significance of anterior mitral valve leaflet length in individuals with a hypertrophic cardiomyopathy gene mutation without hypertrophic changes. ( 29876904 )
2018
22
Phenotype-modifying Factors in Hypertrophic Cardiomyopathy. Response. ( 29954718 )
2018
23
Hypertrophic cardiomyopathy mutation R58Q in the myosin regulatory light chain perturbs thick filament-based regulation in cardiac muscle. ( 29452157 )
2018
24
Isolated Severe Right Ventricular Hypertrophic Cardiomyopathy. ( 29944878 )
2018
25
LeftA ventricular apical aneurysm in hypertrophic cardiomyopathy as a risk factor for sudden death at any age. ( 29893504 )
2018
26
Echocardiography Guided Liwen Procedure<sup>a8c</sup> for the treatment of obstructive hypertrophic cardiomyopathy in a patient with prior aortic valve replacement surgery: Liwen procedure for intra-myocardial radiofrequency ablation. ( 29870575 )
2018
27
Usefulness of Serum Omentin-1 Levels for the Predictions of Adverse Cardiac Events in Patients with Hypertrophic Cardiomyopathy. ( 29402833 )
2018
28
A new look into hypertrophic cardiomyopathy based on clinical evidence. ( 29428048 )
2018
29
Treatable massive pericardial effusion and hypertrophic cardiomyopathy in an infant with a novel homozygous ACADVL mutation: A case report. ( 29768383 )
2018
30
Biatrial performance in children with hypertrophic cardiomyopathy: CMR study. ( 29882072 )
2018
31
Coexistence of Gitelman Syndrome and Hypertrophic Cardiomyopathy in a Pregnant Woman. ( 29375229 )
2018
32
Treatment of hypertrophic cardiomyopathy caused by cardiospecific variants of Fabry disease with chaperone therapy. ( 29452394 )
2018
33
A new phenotype of severe dilated cardiomyopathy associated with a mutation in the LAMP2 gene previously known to cause hypertrophic cardiomyopathy in the context of Danon disease. ( 29753918 )
2018
34
Early detection of myocardial dysfunction using two-dimensional speckle tracking echocardiography in a young cat with hypertrophic cardiomyopathy. ( 29449957 )
2018
35
Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center. ( 29875424 )
2018
36
Predictors of future onset of atrial fibrillation in hypertrophic cardiomyopathy. ( 29884599 )
2018
37
Novel I+-Actin Gene Mutation p.(Ala21Val) Causing Familial Hypertrophic Cardiomyopathy, Myocardial Noncompaction, and Transmural Crypts. Clinical-Pathologic Correlation. ( 29440008 )
2018
38
Response by Rowin et al to Letter Regarding Article, &amp;quot;Clinical Profile and Consequences of Atrial Fibrillation in Hypertrophic Cardiomyopathy&amp;quot;. ( 29866781 )
2018
39
Fibrosis and wall thickness affect ventricular repolarization dynamics in hypertrophic cardiomyopathy. ( 29974557 )
2018
40
Takotsubo Cardiomyopathy in a Patient with Previously Undiagnosed Hypertrophic Cardiomyopathy with Latent Obstruction. ( 29877256 )
2018
41
Septal myectomy for hypertrophic cardiomyopathy: important surgical knowledge and technical tips in the era of increasing alcohol septal ablation. ( 29450766 )
2018
42
Letter regarding Morsbach et al. &amp;quot;Quantitative comparison of 2D and 3D late gadolinium enhancement MR imaging in patients with Fabry disease and hypertrophic cardiomyopathy&amp;quot;. ( 29395363 )
2018
43
The Significance of Interstitial Fibrosis on Left Ventricular Function in Hypertensive versus Hypertrophic Cardiomyopathy. ( 29968754 )
2018
44
Hypertrophic Cardiomyopathy in Liver Transplantation Patients. ( 29880372 )
2018
45
The vital role of exercise testing in hypertrophic cardiomyopathy. ( 29921517 )
2018
46
Dofetilide for suppression of atrial fibrillation in hypertrophic cardiomyopathy: A case series and literature review. ( 29450893 )
2018
47
Gene therapy strategies in the treatment of hypertrophic cardiomyopathy. ( 29971600 )
2018
48
Diagnostic Clues for the Diagnosis of Nonsarcomeric Hypertrophic Cardiomyopathy (Phenocopies): Amyloidosis, Fabry Disease, and Mitochondrial Disease. ( 29911009 )
2018
49
Outcomes of patients with hypertrophic cardiomyopathy and acute myocardial infarction: a propensity score-matched, 15-year nationwide population-based study in Asia. ( 30139891 )
2018
50
Long-Term Outcomes of Acute Myocardial Infarction in Patients With Hypertrophic Cardiomyopathy. ( 29852746 )
2018

Variations for Hypertrophic Cardiomyopathy

ClinVar genetic disease variations for Hypertrophic Cardiomyopathy:

6 (show top 50) (show all 6939)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYBPC3 NM_000256.3(MYBPC3) duplication Pathogenic/Likely pathogenic rs193922384 GRCh38 Chromosome 11, 47332127: 47332144
2 MYBPC3 NM_000256.3(MYBPC3) duplication Pathogenic/Likely pathogenic rs193922384 GRCh37 Chromosome 11, 47353678: 47353695
3 MYBPC3 NM_000256.3(MYBPC3): c.3373G> A (p.Val1125Met) single nucleotide variant Uncertain significance rs121909378 GRCh37 Chromosome 11, 47354482: 47354482
4 MYBPC3 NM_000256.3(MYBPC3): c.3373G> A (p.Val1125Met) single nucleotide variant Uncertain significance rs121909378 GRCh38 Chromosome 11, 47332931: 47332931
5 MYBPC3 NM_000256.3(MYBPC3): c.1624G> C (p.Glu542Gln) single nucleotide variant Pathogenic rs121909374 GRCh37 Chromosome 11, 47364129: 47364129
6 MYBPC3 NM_000256.3(MYBPC3): c.1624G> C (p.Glu542Gln) single nucleotide variant Pathogenic rs121909374 GRCh38 Chromosome 11, 47342578: 47342578
7 MYBPC3 NM_000256.3(MYBPC3): c.3286G> T (p.Glu1096Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909377 GRCh37 Chromosome 11, 47354789: 47354789
8 MYBPC3 NM_000256.3(MYBPC3): c.3286G> T (p.Glu1096Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909377 GRCh38 Chromosome 11, 47333238: 47333238
9 MYBPC3 NM_000256.3(MYBPC3): c.2459G> A (p.Arg820Gln) single nucleotide variant Pathogenic/Likely pathogenic rs2856655 GRCh37 Chromosome 11, 47359085: 47359085
10 MYBPC3 NM_000256.3(MYBPC3): c.2459G> A (p.Arg820Gln) single nucleotide variant Pathogenic/Likely pathogenic rs2856655 GRCh38 Chromosome 11, 47337534: 47337534
11 MYBPC3 NM_000256.3(MYBPC3): c.3330+2T> G single nucleotide variant Pathogenic/Likely pathogenic rs387906397 GRCh37 Chromosome 11, 47354743: 47354743
12 MYBPC3 NM_000256.3(MYBPC3): c.3330+2T> G single nucleotide variant Pathogenic/Likely pathogenic rs387906397 GRCh38 Chromosome 11, 47333192: 47333192
13 GLA; RPL36A-HNRNPH2 NM_000169.2(GLA): c.937G> T (p.Asp313Tyr) single nucleotide variant Conflicting interpretations of pathogenicity, other rs28935490 GRCh37 Chromosome X, 100653420: 100653420
14 GLA; RPL36A-HNRNPH2 NM_000169.2(GLA): c.937G> T (p.Asp313Tyr) single nucleotide variant Conflicting interpretations of pathogenicity, other rs28935490 GRCh38 Chromosome X, 101398432: 101398432
15 TNNI3 NM_000363.4(TNNI3): c.433C> G (p.Arg145Gly) single nucleotide variant Pathogenic rs104894724 GRCh37 Chromosome 19, 55665514: 55665514
16 TNNI3 NM_000363.4(TNNI3): c.433C> G (p.Arg145Gly) single nucleotide variant Pathogenic rs104894724 GRCh38 Chromosome 19, 55154146: 55154146
17 TNNI3 NM_000363.4(TNNI3): c.244C> T (p.Pro82Ser) single nucleotide variant risk factor rs77615401 GRCh37 Chromosome 19, 55667607: 55667607
18 TNNI3 NM_000363.4(TNNI3): c.244C> T (p.Pro82Ser) single nucleotide variant risk factor rs77615401 GRCh38 Chromosome 19, 55156239: 55156239
19 TNNI3 NM_000363.4(TNNI3): c.586G> A (p.Asp196Asn) single nucleotide variant Likely pathogenic rs104894727 GRCh37 Chromosome 19, 55663249: 55663249
20 TNNI3 NM_000363.4(TNNI3): c.586G> A (p.Asp196Asn) single nucleotide variant Likely pathogenic rs104894727 GRCh38 Chromosome 19, 55151881: 55151881
21 TNNI3 NM_000363.4(TNNI3): c.575G> A (p.Arg192His) single nucleotide variant Pathogenic rs104894729 GRCh37 Chromosome 19, 55663260: 55663260
22 TNNI3 NM_000363.4(TNNI3): c.575G> A (p.Arg192His) single nucleotide variant Pathogenic rs104894729 GRCh38 Chromosome 19, 55151892: 55151892
23 TNNI3 NM_000363.4(TNNI3): c.433C> T (p.Arg145Trp) single nucleotide variant Pathogenic rs104894724 GRCh37 Chromosome 19, 55665514: 55665514
24 TNNI3 NM_000363.4(TNNI3): c.433C> T (p.Arg145Trp) single nucleotide variant Pathogenic rs104894724 GRCh38 Chromosome 19, 55154146: 55154146
25 TPM1 NM_001018005.1(TPM1): c.523G> A (p.Asp175Asn) single nucleotide variant Pathogenic rs104894503 GRCh37 Chromosome 15, 63353098: 63353098
26 TPM1 NM_001018005.1(TPM1): c.523G> A (p.Asp175Asn) single nucleotide variant Pathogenic rs104894503 GRCh38 Chromosome 15, 63060899: 63060899
27 MYL3 NM_000258.2(MYL3): c.445A> G (p.Met149Val) single nucleotide variant Pathogenic rs104893748 GRCh37 Chromosome 3, 46901001: 46901001
28 MYL3 NM_000258.2(MYL3): c.445A> G (p.Met149Val) single nucleotide variant Pathogenic rs104893748 GRCh38 Chromosome 3, 46859511: 46859511
29 MYL3 NM_000258.2(MYL3): c.461G> A (p.Arg154His) single nucleotide variant Conflicting interpretations of pathogenicity rs104893749 GRCh37 Chromosome 3, 46900985: 46900985
30 MYL3 NM_000258.2(MYL3): c.461G> A (p.Arg154His) single nucleotide variant Conflicting interpretations of pathogenicity rs104893749 GRCh38 Chromosome 3, 46859495: 46859495
31 MYL3 NM_000258.2(MYL3): c.427G> A (p.Glu143Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs104893750 GRCh37 Chromosome 3, 46901019: 46901019
32 MYL3 NM_000258.2(MYL3): c.427G> A (p.Glu143Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs104893750 GRCh38 Chromosome 3, 46859529: 46859529
33 MYL2 NM_000432.3(MYL2): c.37G> A (p.Ala13Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs104894363 GRCh37 Chromosome 12, 111356964: 111356964
34 MYL2 NM_000432.3(MYL2): c.37G> A (p.Ala13Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs104894363 GRCh38 Chromosome 12, 110919160: 110919160
35 MYL2 NM_000432.3(MYL2): c.37G> A (p.Ala13Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs104894363 NCBI36 Chromosome 12, 109841347: 109841347
36 MYH7 NM_000257.3(MYH7): c.1208G> A (p.Arg403Gln) single nucleotide variant Pathogenic rs121913624 GRCh37 Chromosome 14, 23898487: 23898487
37 MYH7 NM_000257.3(MYH7): c.1208G> A (p.Arg403Gln) single nucleotide variant Pathogenic rs121913624 GRCh38 Chromosome 14, 23429278: 23429278
38 MYH7 NM_000257.3(MYH7): c.746G> A (p.Arg249Gln) single nucleotide variant Pathogenic/Likely pathogenic rs3218713 GRCh37 Chromosome 14, 23900677: 23900677
39 MYH7 NM_000257.3(MYH7): c.746G> A (p.Arg249Gln) single nucleotide variant Pathogenic/Likely pathogenic rs3218713 GRCh38 Chromosome 14, 23431468: 23431468
40 MYH7 NM_000257.3(MYH7): c.1357C> T (p.Arg453Cys) single nucleotide variant Pathogenic rs121913625 GRCh37 Chromosome 14, 23898214: 23898214
41 MYH7 NM_000257.3(MYH7): c.1357C> T (p.Arg453Cys) single nucleotide variant Pathogenic rs121913625 GRCh38 Chromosome 14, 23429005: 23429005
42 MYH7 NM_000257.3(MYH7): c.1750G> C (p.Gly584Arg) single nucleotide variant Pathogenic rs121913626 GRCh37 Chromosome 14, 23896932: 23896932
43 MYH7 NM_000257.3(MYH7): c.1750G> C (p.Gly584Arg) single nucleotide variant Pathogenic rs121913626 GRCh38 Chromosome 14, 23427723: 23427723
44 MYH7 NM_000257.3(MYH7): c.1816G> A (p.Val606Met) single nucleotide variant Pathogenic/Likely pathogenic rs121913627 GRCh37 Chromosome 14, 23896866: 23896866
45 MYH7 NM_000257.3(MYH7): c.1816G> A (p.Val606Met) single nucleotide variant Pathogenic/Likely pathogenic rs121913627 GRCh38 Chromosome 14, 23427657: 23427657
46 MYH7 NM_000257.3(MYH7): c.2770G> A (p.Glu924Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121913628 GRCh37 Chromosome 14, 23893268: 23893268
47 MYH7 NM_000257.3(MYH7): c.2770G> A (p.Glu924Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121913628 GRCh38 Chromosome 14, 23424059: 23424059
48 MYH7 NM_000257.3(MYH7): c.1046T> C (p.Met349Thr) single nucleotide variant Uncertain significance rs121913640 GRCh37 Chromosome 14, 23899076: 23899076
49 MYH7 NM_000257.3(MYH7): c.1046T> C (p.Met349Thr) single nucleotide variant Uncertain significance rs121913640 GRCh38 Chromosome 14, 23429867: 23429867
50 MYH7 NM_000257.3(MYH7): c.2167C> T (p.Arg723Cys) single nucleotide variant Pathogenic rs121913630 GRCh37 Chromosome 14, 23895023: 23895023

Expression for Hypertrophic Cardiomyopathy

Search GEO for disease gene expression data for Hypertrophic Cardiomyopathy.

Pathways for Hypertrophic Cardiomyopathy

Pathways related to Hypertrophic Cardiomyopathy according to KEGG:

37
# Name Kegg Source Accession
1 Hypertrophic cardiomyopathy (HCM) hsa05410

Pathways related to Hypertrophic Cardiomyopathy according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.79 ACTC1 MYH6 MYH7 MYL2 MYL3
2
Show member pathways
12.75 MYBPC3 MYH6 MYL2 MYL3 PLN TNNC1
3
Show member pathways
12.63 ACTC1 MYH6 MYH7 MYL2 MYL3 PLN
4
Show member pathways
12.41 ACTC1 MYH6 MYH7 MYL2 MYL3
5 12.31 ACTC1 TNNI3 TNNT2 TPM1
6
Show member pathways
12.21 ACTC1 MYBPC3 MYH6 MYH7 MYL2 MYL3
7
Show member pathways
12.19 MYH6 MYH7 MYL2 MYL3
8
Show member pathways
12.14 MYH6 MYH7 MYL2 MYL3
9 11.86 MYL2 MYL3 PRKAG2
10 11.51 ACTC1 MYBPC3 MYH6 MYL2 MYL3 TNNC1
11 11.49 ACTC1 MYH6 MYL2 TNNI3 TNNT2
12 11.45 MYH6 MYH7 PRKAG2
13 11.35 ACTC1 MYH6 MYH7 MYL2 MYL3
14 11.17 ACTC1 MYH6 MYH7 MYL2 MYL3 TNNC1
15 10.88 MYH7 MYL2
16 10.88 MYH6 MYH7 MYL2 MYL3

GO Terms for Hypertrophic Cardiomyopathy

Cellular components related to Hypertrophic Cardiomyopathy according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.72 CSRP3 MYBPC3 MYH6 MYH7 TTN
2 stress fiber GO:0001725 9.71 MYH6 MYH7 TPM1
3 myosin complex GO:0016459 9.71 MYH6 MYH7 MYL2 MYL3
4 I band GO:0031674 9.69 ACTC1 MYL3 TTN
5 striated muscle thin filament GO:0005865 9.67 MYBPC3 TNNT2 TTN
6 myosin filament GO:0032982 9.65 MYBPC3 MYH6 MYH7
7 A band GO:0031672 9.63 MYBPC3 MYL2 MYL3
8 muscle myosin complex GO:0005859 9.61 MYH6 MYH7 MYL3
9 contractile fiber GO:0043292 9.55 TNNC1 TNNI3
10 troponin complex GO:0005861 9.54 TNNC1 TNNI3 TNNT2
11 cardiac myofibril GO:0097512 9.46 MYBPC3 MYL2 TNNI3 TNNT2
12 cardiac Troponin complex GO:1990584 9.43 TNNC1 TNNI3 TNNT2
13 myofibril GO:0030016 9.43 MYH6 MYH7 MYL2 TNNI3 TNNT2 TPM1
14 sarcomere GO:0030017 9.36 ACTC1 CSRP3 MYBPC3 MYH6 MYH7 MYL2
15 cytosol GO:0005829 10.34 ACTC1 FHL1 MYBPC3 MYH6 MYL2 MYL3

Biological processes related to Hypertrophic Cardiomyopathy according to GeneCards Suite gene sharing:

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 cardiac muscle contraction GO:0060048 9.93 ACTC1 CSRP3 MYBPC3 MYH6 MYH7 MYL2
2 muscle contraction GO:0006936 9.87 MYBPC3 MYH6 MYH7 TNNI3 TNNT2 TPM1
3 cellular calcium ion homeostasis GO:0006874 9.81 CSRP3 PLN TNNI3
4 positive regulation of ATPase activity GO:0032781 9.81 MYBPC3 MYL3 TNNT2 TPM1
5 regulation of heart contraction GO:0008016 9.8 MYH6 PLN TNNT2 TPM1
6 sarcomere organization GO:0045214 9.8 MYBPC3 MYH6 TNNT2 TPM1 TTN
7 skeletal muscle contraction GO:0003009 9.78 MYH7 TNNC1 TNNI3 TNNT2
8 cardiac myofibril assembly GO:0055003 9.77 ACTC1 CSRP3 MYBPC3 MYL2 TTN
9 regulation of muscle contraction GO:0006937 9.76 TNNC1 TNNI3 TNNT2 TPM1
10 cardiac muscle tissue morphogenesis GO:0055008 9.75 ACTC1 MYBPC3 TTN
11 cardiac muscle fiber development GO:0048739 9.74 MYBPC3 MYH6 TTN
12 heart contraction GO:0060047 9.73 ACTC1 MYL2 TNNI3
13 striated muscle contraction GO:0006941 9.73 MYH6 MYH7 TNNI3 TTN
14 regulation of the force of heart contraction GO:0002026 9.73 CSRP3 MYH6 MYH7 MYL2 MYL3 PLN
15 skeletal muscle thin filament assembly GO:0030240 9.72 ACTC1 MYBPC3 TTN
16 negative regulation of ATPase activity GO:0032780 9.71 PLN TNNI3 TNNT2
17 regulation of striated muscle contraction GO:0006942 9.7 MYBPC3 MYL2 MYL3
18 muscle filament sliding GO:0030049 9.7 ACTC1 MYBPC3 MYH6 MYH7 MYL2 MYL3
19 actin filament-based movement GO:0030048 9.64 ACTC1 MYH6
20 cardiac muscle tissue development GO:0048738 9.64 CSRP3 PLN
21 adult heart development GO:0007512 9.63 MYH6 MYH7
22 cardiac muscle hypertrophy in response to stress GO:0014898 9.62 MYH6 MYH7
23 cardiac muscle hypertrophy GO:0003300 9.62 CSRP3 TTN
24 skeletal muscle myosin thick filament assembly GO:0030241 9.61 MYBPC3 TTN
25 transition between fast and slow fiber GO:0014883 9.61 MYH7 TNNC1
26 regulation of ATPase activity GO:0043462 9.6 MYH6 TNNC1
27 detection of muscle stretch GO:0035995 9.59 CSRP3 TTN
28 regulation of muscle filament sliding speed GO:0032972 9.58 TNNC1 TNNT2
29 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.28 MYBPC3 MYH6 MYH7 MYL2 MYL3 TNNC1

Molecular functions related to Hypertrophic Cardiomyopathy according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 9.88 MYH6 PRKAG2 PTPN11 TNNI3 TTN
2 calcium ion binding GO:0005509 9.88 CALR3 MYL2 MYL3 TNNC1 TNNT2 TTN
3 motor activity GO:0003774 9.71 MYH6 MYH7 MYL3
4 actin binding GO:0003779 9.7 CSRP3 MYBPC3 MYH6 MYH7 TNNI3 TNNT2
5 myosin binding GO:0017022 9.56 ACTC1 MYBPC3
6 microfilament motor activity GO:0000146 9.55 MYH6 MYH7
7 muscle alpha-actinin binding GO:0051371 9.52 MYBPC3 TTN
8 actin-dependent ATPase activity GO:0030898 9.51 MYH6 MYH7
9 actin filament binding GO:0051015 9.5 MYBPC3 MYH6 MYH7 TNNC1 TNNI3 TPM1
10 actinin binding GO:0042805 9.49 CSRP3 TTN
11 myosin heavy chain binding GO:0032036 9.46 MYBPC3 MYL2
12 telethonin binding GO:0031433 9.43 CSRP3 TTN
13 troponin I binding GO:0031013 9.37 TNNC1 TNNT2
14 troponin T binding GO:0031014 9.32 TNNC1 TNNI3
15 troponin C binding GO:0030172 9.26 TNNI3 TNNT2
16 structural constituent of muscle GO:0008307 9.1 CSRP3 MYBPC3 MYL2 MYL3 TPM1 TTN

Sources for Hypertrophic Cardiomyopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....