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Hypertrophic cardiomyopathy 1(CMH1)

MedGen UID:
501195
Concept ID:
C3495498
Disease or Syndrome
Synonyms: Familial hypertrophic cardiomyopathy 1; MYH7-Related Familial Hypertrophic Cardiomyopathy
 
Genes (locations): CAV3 (3p25.3); MYH6 (14q11.2); MYH7 (14q11.2); MYLK2 (20q11.21)
 
Monarch Initiative: MONDO:0008647
OMIM®: 192600

Definition

Hypertrophic cardiomyopathy (HCM) is typically defined by the presence of unexplained left ventricular hypertrophy (LVH). Such LVH occurs in a non-dilated ventricle in the absence of other cardiac or systemic disease capable of producing the observed magnitude of increased LV wall thickness, such as pressure overload (e.g., long-standing hypertension, aortic stenosis) or storage/infiltrative disorders (e.g., Fabry disease, amyloidosis). The clinical manifestations of HCM range from asymptomatic LVH to progressive heart failure to sudden cardiac death (SCD), and vary from individual to individual even within the same family. Common symptoms include shortness of breath (particularly with exertion), chest pain, palpitations, orthostasis, presyncope, and syncope. Most often the LVH of HCM becomes apparent during adolescence or young adulthood, although it may also develop late in life, in infancy, or in childhood. [from NCBI]

Additional descriptions

From NCBI curation
Hypertrophic cardiomyopathy (HCM) is typically defined by the presence of unexplained left ventricular hypertrophy (LVH). Such LVH occurs in a non-dilated ventricle in the absence of other cardiac or systemic disease capable of producing the observed magnitude of increased LV wall thickness, such as pressure overload (e.g., long-standing hypertension, aortic stenosis) or storage/infiltrative disorders (e.g., Fabry disease, amyloidosis). The clinical manifestations of HCM range from asymptomatic LVH to progressive heart failure to sudden cardiac death (SCD), and vary from individual to individual even within the same family. Common symptoms include shortness of breath (particularly with exertion), chest pain, palpitations, orthostasis, presyncope, and syncope. Most often the LVH of HCM becomes apparent during adolescence or young adulthood, although it may also develop late in life, in infancy, or in childhood.
From MedlinePlus Genetics
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.

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.

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.   https://medlineplus.gov/genetics/condition/familial-hypertrophic-cardiomyopathy

Clinical features

From HPO
Sudden death
MedGen UID:
8257
Concept ID:
C0011071
Pathologic Function
Rapid and unexpected death.
Cardiac arrhythmia
MedGen UID:
2039
Concept ID:
C0003811
Finding
Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.
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.
Asymmetric septal hypertrophy
MedGen UID:
104705
Concept ID:
C0205700
Disease or Syndrome
Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray.
Subvalvular aortic stenosis
MedGen UID:
90950
Concept ID:
C0340375
Disease or Syndrome
A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve.

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
Caldwell J, Moreton N, Khan N, Kerzin-Storrar L, Metcalfe K, Newman W, Garratt CJ
Heart 2012 Apr;98(8):631-6. doi: 10.1136/heartjnl-2011-300924. PMID: 22505462

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

Lertsuttimetta T, Tumkosit M, Kaveevorayan P, Chantranuwatana P, Theerasuwipakorn N, Chattranukulchai P, Puwanant S
PLoS One 2022;17(6):e0269019. Epub 2022 Jun 1 doi: 10.1371/journal.pone.0269019. PMID: 35648762Free PMC Article
McKenna WJ, Judge DP
Nat Rev Cardiol 2021 Jan;18(1):22-36. Epub 2020 Sep 7 doi: 10.1038/s41569-020-0428-2. PMID: 32895535
Brambilla A, Favilli S, Olivotto I, Calabri GB, Porcedda G, De Simone L, Procopio E, Pasquini E, Donati MA
Int J Cardiol 2019 Feb 1;276:14-19. Epub 2018 Oct 23 doi: 10.1016/j.ijcard.2018.10.051. PMID: 30482630
Modaff DS, Hegde SM, Wyman RA, Rahko PS
Am J Cardiol 2019 Jan 1;123(1):169-174. Epub 2018 Sep 26 doi: 10.1016/j.amjcard.2018.09.012. PMID: 30348435
Drezner JA, Owens DS, Prutkin JM, Salerno JC, Harmon KG, Prosise S, Clark A, Asif IM
Am J Cardiol 2016 Sep 1;118(5):754-9. Epub 2016 Jun 14 doi: 10.1016/j.amjcard.2016.06.004. PMID: 27496294

Diagnosis

Lertsuttimetta T, Tumkosit M, Kaveevorayan P, Chantranuwatana P, Theerasuwipakorn N, Chattranukulchai P, Puwanant S
PLoS One 2022;17(6):e0269019. Epub 2022 Jun 1 doi: 10.1371/journal.pone.0269019. PMID: 35648762Free PMC Article
McKenna WJ, Judge DP
Nat Rev Cardiol 2021 Jan;18(1):22-36. Epub 2020 Sep 7 doi: 10.1038/s41569-020-0428-2. PMID: 32895535
Lupariello F, Di Vella G, Botta G
Fetal Pediatr Pathol 2020 Oct;39(5):452-454. Epub 2019 Aug 26 doi: 10.1080/15513815.2019.1655820. PMID: 31448665
Brambilla A, Favilli S, Olivotto I, Calabri GB, Porcedda G, De Simone L, Procopio E, Pasquini E, Donati MA
Int J Cardiol 2019 Feb 1;276:14-19. Epub 2018 Oct 23 doi: 10.1016/j.ijcard.2018.10.051. PMID: 30482630
Drezner JA, Owens DS, Prutkin JM, Salerno JC, Harmon KG, Prosise S, Clark A, Asif IM
Am J Cardiol 2016 Sep 1;118(5):754-9. Epub 2016 Jun 14 doi: 10.1016/j.amjcard.2016.06.004. PMID: 27496294

Therapy

Lertsuttimetta T, Tumkosit M, Kaveevorayan P, Chantranuwatana P, Theerasuwipakorn N, Chattranukulchai P, Puwanant S
PLoS One 2022;17(6):e0269019. Epub 2022 Jun 1 doi: 10.1371/journal.pone.0269019. PMID: 35648762Free PMC Article
Caldwell J, Moreton N, Khan N, Kerzin-Storrar L, Metcalfe K, Newman W, Garratt CJ
Heart 2012 Apr;98(8):631-6. doi: 10.1136/heartjnl-2011-300924. PMID: 22505462
Mahon NG, Zal B, Arno G, Risley P, Pinto-Basto J, McKenna WJ, Davies MJ, Baboonian C
Heart 2001 Dec;86(6):687-92. doi: 10.1136/heart.86.6.687. PMID: 11711469Free PMC Article
Chevalier P, Dacosta A, Chalvidan T, Bonnefoy E, Kirkorian G, Isaaz K, Touboul P
Int J Cardiol 1998 May 15;64(3):265-70. doi: 10.1016/s0167-5273(98)00053-9. PMID: 9672407
Gray LA Jr, Ganzel BL, Mavroudis C, Slater AD
Ann Thorac Surg 1989 Aug;48(2):222-7. doi: 10.1016/0003-4975(89)90074-x. PMID: 2669647

Prognosis

Lertsuttimetta T, Tumkosit M, Kaveevorayan P, Chantranuwatana P, Theerasuwipakorn N, Chattranukulchai P, Puwanant S
PLoS One 2022;17(6):e0269019. Epub 2022 Jun 1 doi: 10.1371/journal.pone.0269019. PMID: 35648762Free PMC Article
Brambilla A, Favilli S, Olivotto I, Calabri GB, Porcedda G, De Simone L, Procopio E, Pasquini E, Donati MA
Int J Cardiol 2019 Feb 1;276:14-19. Epub 2018 Oct 23 doi: 10.1016/j.ijcard.2018.10.051. PMID: 30482630
Drezner JA, Owens DS, Prutkin JM, Salerno JC, Harmon KG, Prosise S, Clark A, Asif IM
Am J Cardiol 2016 Sep 1;118(5):754-9. Epub 2016 Jun 14 doi: 10.1016/j.amjcard.2016.06.004. PMID: 27496294
Nistri S, Olivotto I, Betocchi S, Losi MA, Valsecchi G, Pinamonti B, Conte MR, Casazza F, Galderisi M, Maron BJ, Cecchi F
Am J Cardiol 2006 Oct 1;98(7):960-5. Epub 2006 Aug 14 doi: 10.1016/j.amjcard.2006.05.013. PMID: 16996883
Nienaber CA, Hiller S, Spielmann RP, Geiger M, Kuck KH
J Am Coll Cardiol 1990 Apr;15(5):948-55. doi: 10.1016/0735-1097(90)90222-b. PMID: 2312980

Clinical prediction guides

Drezner JA, Owens DS, Prutkin JM, Salerno JC, Harmon KG, Prosise S, Clark A, Asif IM
Am J Cardiol 2016 Sep 1;118(5):754-9. Epub 2016 Jun 14 doi: 10.1016/j.amjcard.2016.06.004. PMID: 27496294
Biagini E, Pazzi C, Olivotto I, Musumeci B, Limongelli G, Boriani G, Pacileo G, Mastromarino V, Bacchi Reggiani ML, Lorenzini M, Lai F, Berardini A, Mingardi F, Rosmini S, Resciniti E, Borghi C, Autore C, Cecchi F, Rapezzi C
Am J Cardiol 2016 Aug 1;118(3):432-9. Epub 2016 May 15 doi: 10.1016/j.amjcard.2016.05.023. PMID: 27289293
Romero-Rodríguez N, Lage-Gallé E, Guisado-Rasco A, Nevado-Portero J, Rodríguez RS, Machuca MG, Marquez MS, Martínez-Martínez A
Transplant Proc 2010 Oct;42(8):3173-4. doi: 10.1016/j.transproceed.2010.06.009. PMID: 20970640
Nistri S, Olivotto I, Betocchi S, Losi MA, Valsecchi G, Pinamonti B, Conte MR, Casazza F, Galderisi M, Maron BJ, Cecchi F
Am J Cardiol 2006 Oct 1;98(7):960-5. Epub 2006 Aug 14 doi: 10.1016/j.amjcard.2006.05.013. PMID: 16996883
Nienaber CA, Hiller S, Spielmann RP, Geiger M, Kuck KH
J Am Coll Cardiol 1990 Apr;15(5):948-55. doi: 10.1016/0735-1097(90)90222-b. PMID: 2312980

Supplemental Content

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    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.

    Curated

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

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