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Hypertrophic cardiomyopathy 4(CMH4)

MedGen UID:
350526
•Concept ID:
C1861862
•
Disease or Syndrome
Synonym: Familial hypertrophic cardiomyopathy 4
 
Gene (location): MYBPC3 (11p11.2)
 
Monarch Initiative: MONDO:0007268
OMIM®: 115197

Definition

Nonfamilial hypertrophic cardiomyopathy tends to be milder. This form typically begins later in life than familial hypertrophic cardiomyopathy, and affected individuals have a lower risk of serious cardiac events and sudden death than people with the familial form.

While most people with familial hypertrophic cardiomyopathy are symptom-free or have only mild symptoms, this condition can have serious consequences. It can cause abnormal heart rhythms (arrhythmias) that may be life threatening. People with familial hypertrophic cardiomyopathy have an increased risk of sudden death, even if they have no other symptoms of the condition. A small number of affected individuals develop potentially fatal heart failure, which may require heart transplantation.

The symptoms of familial hypertrophic cardiomyopathy are variable, even within the same family. Many affected individuals have no symptoms. Other people with familial hypertrophic cardiomyopathy may experience chest pain; shortness of breath, especially with physical exertion; a sensation of fluttering or pounding in the chest (palpitations); lightheadedness; dizziness; and fainting.

In familial hypertrophic cardiomyopathy, cardiac thickening usually occurs in the interventricular septum, which is the muscular wall that separates the lower left chamber of the heart (the left ventricle) from the lower right chamber (the right ventricle). In some people, thickening of the interventricular septum impedes the flow of oxygen-rich blood from the heart, which may lead to an abnormal heart sound during a heartbeat (heart murmur) and other signs and symptoms of the condition. Other affected individuals do not have physical obstruction of blood flow, but the pumping of blood is less efficient, which can also lead to symptoms of the condition. Familial hypertrophic cardiomyopathy often begins in adolescence or young adulthood, although it can develop at any time throughout life.

Hypertrophic cardiomyopathy is a heart condition characterized by thickening (hypertrophy) of the heart (cardiac) muscle. When multiple members of a family have the condition, it is known as familial hypertrophic cardiomyopathy. Hypertrophic cardiomyopathy also occurs in people with no family history; these cases are considered nonfamilial hypertrophic cardiomyopathy.  [from MedlinePlus Genetics]

Clinical features

From HPO
Chest pain
MedGen UID:
2992
•Concept ID:
C0008031
•
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest.
Sudden cardiac death
MedGen UID:
38841
•Concept ID:
C0085298
•
Pathologic Function
The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).
Atrioventricular block
MedGen UID:
13956
•Concept ID:
C0004245
•
Disease or Syndrome
Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles.
Hypertrophic cardiomyopathy
MedGen UID:
2881
•Concept ID:
C0007194
•
Disease or Syndrome
Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.
Transient ischemic attack
MedGen UID:
853
•Concept ID:
C0007787
•
Disease or Syndrome
A brief attack (from a few minutes to an hour) of cerebral dysfunction of vascular origin, with no persistent neurological deficit.
Cardiac arrest
MedGen UID:
5456
•Concept ID:
C0018790
•
Finding
An abrupt loss of heart function.
Cardiomegaly
MedGen UID:
5459
•Concept ID:
C0018800
•
Finding
Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.
Congestive heart failure
MedGen UID:
9169
•Concept ID:
C0018802
•
Disease or Syndrome
The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.
Left bundle branch block
MedGen UID:
7286
•Concept ID:
C0023211
•
Disease or Syndrome
A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG.
Pericardial effusion
MedGen UID:
10653
•Concept ID:
C0031039
•
Disease or Syndrome
Accumulation of fluid within the pericardium.
Stroke disorder
MedGen UID:
52522
•Concept ID:
C0038454
•
Disease or Syndrome
Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.
Syncope
MedGen UID:
21443
•Concept ID:
C0039070
•
Sign or Symptom
A transient loss of consciousness (i.e., characterized by a rapid onset, a short duration, and a spontaneous and complete recovery) due to cerebral hypoperfusion.
Ventricular fibrillation
MedGen UID:
21844
•Concept ID:
C0042510
•
Disease or Syndrome
Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations.
First degree atrioventricular block
MedGen UID:
43215
•Concept ID:
C0085614
•
Disease or Syndrome
Delay of conduction through the atrioventricular node, which is manifested as prolongation of the PR interval in the electrocardiogram (EKG). All atrial impulses reach the ventricles.
Complete right bundle branch block
MedGen UID:
88445
•Concept ID:
C0085615
•
Disease or Syndrome
A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG.
Ventricular hypertrophy
MedGen UID:
87400
•Concept ID:
C0340279
•
Disease or Syndrome
Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy.
Ventricular septal hypertrophy
MedGen UID:
138013
•Concept ID:
C0344955
•
Finding
The dividing wall between left and right sides of the heart, thickens and bulges into the left ventricle.
Muscular ventricular septal defect
MedGen UID:
473253
•Concept ID:
C0685707
•
Congenital Abnormality
The trabecular septum is the largest part of the interventricular septum. It extends from the membranous septum to the apex and superiorly to the infundibular septum. A defect in the trabecular septum is called muscular VSD if the defect is completely rimmed by muscle.
Right atrial enlargement
MedGen UID:
677114
•Concept ID:
C0748427
•
Disease or Syndrome
Increase in size of the right atrium.
Myofiber disarray
MedGen UID:
1615672
•Concept ID:
C3671015
•
Finding
A nonparallel arrangement of cardiac myocytes.
Reduced left ventricular ejection fraction
MedGen UID:
868398
•Concept ID:
C4022792
•
Finding
A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle.
Ascites
MedGen UID:
416
•Concept ID:
C0003962
•
Sign or Symptom
Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen).
Hepatomegaly
MedGen UID:
42428
•Concept ID:
C0019209
•
Finding
Abnormally increased size of the liver.
Myopathy
MedGen UID:
10135
•Concept ID:
C0026848
•
Disease or Syndrome
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
Dyspnea
MedGen UID:
3938
•Concept ID:
C0013404
•
Sign or Symptom
Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.
Pulmonary edema
MedGen UID:
11026
•Concept ID:
C0034063
•
Pathologic Function
Fluid accumulation in the lungs.
Respiratory distress
MedGen UID:
96907
•Concept ID:
C0476273
•
Sign or Symptom
Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Price DE, McWilliams A, Asif IM, Martin A, Elliott SD, Dulin M, Drezner JA
Heart Rhythm 2014 Mar;11(3):442-9. Epub 2013 Dec 4 doi: 10.1016/j.hrthm.2013.12.002. PMID: 24315964

Curated

Pinto YM, Wilde AA, van Rijsingen IA, Christiaans I, Deprez RH, Elliott PM
Eur J Hum Genet 2011 Aug;19(8) Epub 2011 Jan 26 doi: 10.1038/ejhg.2010.243. PMID: 21267010Free PMC Article

Recent clinical studies

Etiology

Cao Y, Li Y, Ming Z, Huang M, Zhang K, Zhao J, Xu C, Liu X, Wang H, Shi H
Int J Cardiol 2026 Dec 1;464:134938. Epub 2026 Sep 22 doi: 10.1016/j.ijcard.2026.134938. PMID: 42772601
Del Franco A, Setti V, Colio F, Mazzoni C, Bonacchi G, Biagioni G, Bonanni F, Giovani S, Insinna E, Ballerini A, Gozzini A, Zampieri M, Pieroni M, Cappelli F, Olivotto I, Girolami F
Int J Cardiol 2026 Nov 1;462:134718. Epub 2026 Aug 9 doi: 10.1016/j.ijcard.2026.134718. PMID: 42571822
Tini G, Perlati I, Palma S, Giovani S, Santolamazza C, Monda E, Vagnarelli F, Marini M, Bertero E, De Michieli L, Giacalone G, Marchionni G, Chimenti C, Russo D, Lanzillo C, Re F, Canepa M, Calore C, Merlo M, Sinagra G, Ammirati E, Limongelli G, Olivotto I, Autore C, Musumeci B
Int J Cardiol 2026 Nov 1;462:134721. Epub 2026 Aug 9 doi: 10.1016/j.ijcard.2026.134721. PMID: 42571820
Maurizi N, Jensen D, Vischer AS, Stämpfli SF, Monney P, Gruner C
Int J Cardiol 2026 Nov 1;462:134689. Epub 2026 Jul 25 doi: 10.1016/j.ijcard.2026.134689. PMID: 42501898
Pelliccia A, Ferrera A, Daniello CD, Di Gioia G, Maestrini V, Monosilio S, Mango F, Squeo MR, Olivotto I
Int J Cardiol 2026 Oct 15;461:134676. Epub 2026 Jul 17 doi: 10.1016/j.ijcard.2026.134676. PMID: 42468694

Diagnosis

Kitaoka H, Kubo T, Torigoe M, Ikeda Y, Shimoura K, Suo S, Takeda R, Maekawa Y
Future Cardiol 2026 Oct 13:1-12. doi: 10.1080/14796678.2026.2745404. PMID: 42870498
Del Franco A, Setti V, Colio F, Mazzoni C, Bonacchi G, Biagioni G, Bonanni F, Giovani S, Insinna E, Ballerini A, Gozzini A, Zampieri M, Pieroni M, Cappelli F, Olivotto I, Girolami F
Int J Cardiol 2026 Nov 1;462:134718. Epub 2026 Aug 9 doi: 10.1016/j.ijcard.2026.134718. PMID: 42571822
Pelliccia A, Ferrera A, Daniello CD, Di Gioia G, Maestrini V, Monosilio S, Mango F, Squeo MR, Olivotto I
Int J Cardiol 2026 Oct 15;461:134676. Epub 2026 Jul 17 doi: 10.1016/j.ijcard.2026.134676. PMID: 42468694
Rafanelli M, Agusto S, Fumagalli C, Olivotto I, Cecchi F, Roselli V, Vincenzi V, Filice G, Rivasi G, Brignole M, Ungar A
Int J Cardiol 2026 Oct 15;461:134658. Epub 2026 Jul 1 doi: 10.1016/j.ijcard.2026.134658. PMID: 42386046
Ektare V, Simons C, Johannesen K, Krause T, Zema CL, Buisman LR, Treur M, Moura A, Dasari M, Verkaik M, van de Wetering G, Pronk L, Pompen M, Li X, Contente M, Knackstedt C, Hurst M
J Med Econ 2026 Dec;29(1):1595-1616. Epub 2026 Jun 8 doi: 10.1080/13696998.2026.2675850. PMID: 42258343

Therapy

Kitaoka H, Kubo T, Torigoe M, Ikeda Y, Shimoura K, Suo S, Takeda R, Maekawa Y
Future Cardiol 2026 Oct 13:1-12. doi: 10.1080/14796678.2026.2745404. PMID: 42870498
Tini G, Perlati I, Palma S, Giovani S, Santolamazza C, Monda E, Vagnarelli F, Marini M, Bertero E, De Michieli L, Giacalone G, Marchionni G, Chimenti C, Russo D, Lanzillo C, Re F, Canepa M, Calore C, Merlo M, Sinagra G, Ammirati E, Limongelli G, Olivotto I, Autore C, Musumeci B
Int J Cardiol 2026 Nov 1;462:134721. Epub 2026 Aug 9 doi: 10.1016/j.ijcard.2026.134721. PMID: 42571820
Maurizi N, Jensen D, Vischer AS, Stämpfli SF, Monney P, Gruner C
Int J Cardiol 2026 Nov 1;462:134689. Epub 2026 Jul 25 doi: 10.1016/j.ijcard.2026.134689. PMID: 42501898
Paik KS, Wright Z, Gokul K, Seals A, Raman D, Sundaravel S
Int J Cardiol 2026 Oct 15;461:134661. Epub 2026 Jul 5 doi: 10.1016/j.ijcard.2026.134661. PMID: 42402257
Ektare V, Simons C, Johannesen K, Krause T, Zema CL, Buisman LR, Treur M, Moura A, Dasari M, Verkaik M, van de Wetering G, Pronk L, Pompen M, Li X, Contente M, Knackstedt C, Hurst M
J Med Econ 2026 Dec;29(1):1595-1616. Epub 2026 Jun 8 doi: 10.1080/13696998.2026.2675850. PMID: 42258343

Prognosis

Cao Y, Li Y, Ming Z, Huang M, Zhang K, Zhao J, Xu C, Liu X, Wang H, Shi H
Int J Cardiol 2026 Dec 1;464:134938. Epub 2026 Sep 22 doi: 10.1016/j.ijcard.2026.134938. PMID: 42772601
Del Franco A, Setti V, Colio F, Mazzoni C, Bonacchi G, Biagioni G, Bonanni F, Giovani S, Insinna E, Ballerini A, Gozzini A, Zampieri M, Pieroni M, Cappelli F, Olivotto I, Girolami F
Int J Cardiol 2026 Nov 1;462:134718. Epub 2026 Aug 9 doi: 10.1016/j.ijcard.2026.134718. PMID: 42571822
Maurizi N, Jensen D, Vischer AS, Stämpfli SF, Monney P, Gruner C
Int J Cardiol 2026 Nov 1;462:134689. Epub 2026 Jul 25 doi: 10.1016/j.ijcard.2026.134689. PMID: 42501898
Pelliccia A, Ferrera A, Daniello CD, Di Gioia G, Maestrini V, Monosilio S, Mango F, Squeo MR, Olivotto I
Int J Cardiol 2026 Oct 15;461:134676. Epub 2026 Jul 17 doi: 10.1016/j.ijcard.2026.134676. PMID: 42468694
Lahue C, Ravindran S, Dalal A, Avetisyan R, Rau CD
Epigenetics 2026 Dec 31;21(1):2643094. Epub 2026 Mar 19 doi: 10.1080/15592294.2026.2643094. PMID: 41855523Free PMC Article

Clinical prediction guides

Cao Y, Li Y, Ming Z, Huang M, Zhang K, Zhao J, Xu C, Liu X, Wang H, Shi H
Int J Cardiol 2026 Dec 1;464:134938. Epub 2026 Sep 22 doi: 10.1016/j.ijcard.2026.134938. PMID: 42772601
Del Franco A, Setti V, Colio F, Mazzoni C, Bonacchi G, Biagioni G, Bonanni F, Giovani S, Insinna E, Ballerini A, Gozzini A, Zampieri M, Pieroni M, Cappelli F, Olivotto I, Girolami F
Int J Cardiol 2026 Nov 1;462:134718. Epub 2026 Aug 9 doi: 10.1016/j.ijcard.2026.134718. PMID: 42571822
Maurizi N, Jensen D, Vischer AS, Stämpfli SF, Monney P, Gruner C
Int J Cardiol 2026 Nov 1;462:134689. Epub 2026 Jul 25 doi: 10.1016/j.ijcard.2026.134689. PMID: 42501898
Gebrehiwet P, Jackson J, Hargreaves L, Barlow S, LeBrocq L, Brekke J, Butzner M, Freeman E, Shreay S, Akita K, Shimada Y
J Med Econ 2026 Dec;29(1):1537-1554. Epub 2026 Jun 1 doi: 10.1080/13696998.2026.2671565. PMID: 42223221
Lahue C, Ravindran S, Dalal A, Avetisyan R, Rau CD
Epigenetics 2026 Dec 31;21(1):2643094. Epub 2026 Mar 19 doi: 10.1080/15592294.2026.2643094. PMID: 41855523Free PMC Article

Recent systematic reviews

Martínez Safar IE, De La Ossa Díaz JP, Martínez D DA, Rendón-Garavito C, Santiago-Villegas F, Díaz F MP, Heredia Barrios MI, Villamarín-Velásquez R
Eur J Radiol 2026 Sep 6;205:113219. doi: 10.1016/j.ejrad.2026.113219. PMID: 42727224
Jones AJ, Smoot D, Fayek FB, Rahimov D, Wood CT, Rajab TK, Eisen HJ, Alvarez R, Rame JE, Rajagopal K, Hoopes CW, Tchantchaleishvili V
Artif Organs 2026 Sep;50(9):1207-1216. Epub 2026 Jul 30 doi: 10.1111/aor.70207. PMID: 42532971Free PMC Article
Aimo A, Castiglione V, Panichella G, Fontana M, Emdin M, Vergaro G
ESC Heart Fail 2026 Aug 27;13(5) doi: 10.1093/eschf/xvag172. PMID: 42325163Free PMC Article
Zhang K, Aaronson E, Cha YM, Ezzeddine FM
J Interv Card Electrophysiol 2026 Sep;69(6):1295-1304. Epub 2026 Jan 24 doi: 10.1007/s10840-025-02227-0. PMID: 41579252
Cappellaro AP, de Almeida LFC, Gismondi RAOC, Ayala R, Thet MS, Dearani JA
Pediatr Cardiol 2026 Oct;47(7):2820-2827. Epub 2025 Nov 17 doi: 10.1007/s00246-025-04088-w. PMID: 41247546Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • EuroGenetest, 2011
      Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).

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