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Hypertrophic cardiomyopathy 2(CMH2)

MedGen UID:
349383
Concept ID:
C1861864
Disease or Syndrome
Synonyms: Familial hypertrophic cardiomyopathy 2; TNNT2-Related Familial Hypertrophic Cardiomyopathy
 
Gene (location): TNNT2 (1q32.1)
 
Monarch Initiative: MONDO:0007266
OMIM®: 115195

Definition

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. 

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.

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.

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. [from MedlinePlus Genetics]

Clinical features

From HPO
Angina pectoris
MedGen UID:
1929
Concept ID:
C0002962
Sign or Symptom
Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia.
Atrial fibrillation
MedGen UID:
445
Concept ID:
C0004238
Finding
An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute.
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.
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 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.
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.
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.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Chu G, Zhang G, Zhu M, Zhang Z, Wu Y, Zhang H
Med Princ Pract 2015;24(4):325-31. Epub 2015 May 9 doi: 10.1159/000381856. PMID: 25968879Free 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
Seward JB, Tajik AJ
Cardiovasc Clin 1980;10(3):199-230. PMID: 6445779

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

Hanson PJ, Liu-Fei F, Minato TA, Hossain AR, Rai H, Chen VA, Ng C, Ask K, Hirota JA, McManus BM
Lab Invest 2022 Jan;102(1):14-24. Epub 2021 Oct 4 doi: 10.1038/s41374-021-00669-4. PMID: 34608239Free PMC Article
Okubo K, Gigli L, Trevisi N, Foppoli L, Radinovic A, Bisceglia C, Frontera A, D'Angelo G, Cireddu M, Paglino G, Mazzone P, Della Bella P
Circ Arrhythm Electrophysiol 2020 Aug;13(8):e008307. Epub 2020 Jul 12 doi: 10.1161/CIRCEP.119.008307. PMID: 32657137
Fonseca AC, Marto JP, Pimenta D, Guimarães T, Alves PN, Inácio N, Viana-Baptista M, Pinho E Melo T, Pinto FJ, Ferro JM, Almeida AG
Neurology 2020 Jan 7;94(1):e107-e113. Epub 2019 Dec 2 doi: 10.1212/WNL.0000000000008698. PMID: 31792090
Ceroni JRM, Spolador GM, Bermeo DS, Honjo RS, de Oliveira LAN, Bertola DR, Kim CA
Skeletal Radiol 2019 Aug;48(8):1201-1207. Epub 2019 Feb 2 doi: 10.1007/s00256-019-3159-x. PMID: 30712120
Glass CH, Christakis A, Fishbein GA, Watkins JC, Strickland KC, Mitchell RN, Padera RF
Cardiovasc Pathol 2019 Jan-Feb;38:14-20. Epub 2018 Sep 15 doi: 10.1016/j.carpath.2018.09.002. PMID: 30399526

Diagnosis

Hanson PJ, Liu-Fei F, Minato TA, Hossain AR, Rai H, Chen VA, Ng C, Ask K, Hirota JA, McManus BM
Lab Invest 2022 Jan;102(1):14-24. Epub 2021 Oct 4 doi: 10.1038/s41374-021-00669-4. PMID: 34608239Free PMC Article
Okubo K, Gigli L, Trevisi N, Foppoli L, Radinovic A, Bisceglia C, Frontera A, D'Angelo G, Cireddu M, Paglino G, Mazzone P, Della Bella P
Circ Arrhythm Electrophysiol 2020 Aug;13(8):e008307. Epub 2020 Jul 12 doi: 10.1161/CIRCEP.119.008307. PMID: 32657137
Ceroni JRM, Spolador GM, Bermeo DS, Honjo RS, de Oliveira LAN, Bertola DR, Kim CA
Skeletal Radiol 2019 Aug;48(8):1201-1207. Epub 2019 Feb 2 doi: 10.1007/s00256-019-3159-x. PMID: 30712120
Glass CH, Christakis A, Fishbein GA, Watkins JC, Strickland KC, Mitchell RN, Padera RF
Cardiovasc Pathol 2019 Jan-Feb;38:14-20. Epub 2018 Sep 15 doi: 10.1016/j.carpath.2018.09.002. PMID: 30399526
Leatherbury L, Chandra RS, Shapiro SR, Perry LW
J Am Coll Cardiol 1988 Dec;12(6):1547-54. doi: 10.1016/s0735-1097(88)80024-x. PMID: 3192852

Therapy

Okubo K, Gigli L, Trevisi N, Foppoli L, Radinovic A, Bisceglia C, Frontera A, D'Angelo G, Cireddu M, Paglino G, Mazzone P, Della Bella P
Circ Arrhythm Electrophysiol 2020 Aug;13(8):e008307. Epub 2020 Jul 12 doi: 10.1161/CIRCEP.119.008307. PMID: 32657137
Glass CH, Christakis A, Fishbein GA, Watkins JC, Strickland KC, Mitchell RN, Padera RF
Cardiovasc Pathol 2019 Jan-Feb;38:14-20. Epub 2018 Sep 15 doi: 10.1016/j.carpath.2018.09.002. PMID: 30399526
Inoue K, Murakawa Y, Nogami A, Shoda M, Naito S, Kumagai K, Miyauchi Y, Yamane T, Morita N, Okumura K; Japanese Heart Rhythm Society Members
Heart Rhythm 2014 Dec;11(12):2247-53. Epub 2014 Aug 15 doi: 10.1016/j.hrthm.2014.08.021. PMID: 25131666
Leatherbury L, Chandra RS, Shapiro SR, Perry LW
J Am Coll Cardiol 1988 Dec;12(6):1547-54. doi: 10.1016/s0735-1097(88)80024-x. PMID: 3192852

Prognosis

Feng B, Li X, Zhang Q, Wang Y, Gu S, Yao RE, Li Z, Gao S, Chang G, Li Q, Li N, Fu L, Wang J, Wang X
Orphanet J Rare Dis 2023 Sep 11;18(1):284. doi: 10.1186/s13023-023-02878-0. PMID: 37697378Free PMC Article
Inoue K, Murakawa Y, Nogami A, Shoda M, Naito S, Kumagai K, Miyauchi Y, Yamane T, Morita N, Okumura K; Japanese Heart Rhythm Society Members
Heart Rhythm 2014 Dec;11(12):2247-53. Epub 2014 Aug 15 doi: 10.1016/j.hrthm.2014.08.021. PMID: 25131666
Nakae I, Mitsunami K, Matsuo S, Inubushi T, Morikawa S, Tsutamoto T, Koh T, Horie M
Circ J 2005 Jun;69(6):711-6. doi: 10.1253/circj.69.711. PMID: 15914951
Fan K, Lee K, Lau CP
J Interv Card Electrophysiol 1999 Oct;3(3):239-45. doi: 10.1023/a:1009847707872. PMID: 10490480

Clinical prediction guides

Feng B, Li X, Zhang Q, Wang Y, Gu S, Yao RE, Li Z, Gao S, Chang G, Li Q, Li N, Fu L, Wang J, Wang X
Orphanet J Rare Dis 2023 Sep 11;18(1):284. doi: 10.1186/s13023-023-02878-0. PMID: 37697378Free PMC Article
Okubo K, Gigli L, Trevisi N, Foppoli L, Radinovic A, Bisceglia C, Frontera A, D'Angelo G, Cireddu M, Paglino G, Mazzone P, Della Bella P
Circ Arrhythm Electrophysiol 2020 Aug;13(8):e008307. Epub 2020 Jul 12 doi: 10.1161/CIRCEP.119.008307. PMID: 32657137
Ceroni JRM, Spolador GM, Bermeo DS, Honjo RS, de Oliveira LAN, Bertola DR, Kim CA
Skeletal Radiol 2019 Aug;48(8):1201-1207. Epub 2019 Feb 2 doi: 10.1007/s00256-019-3159-x. PMID: 30712120
Inoue K, Murakawa Y, Nogami A, Shoda M, Naito S, Kumagai K, Miyauchi Y, Yamane T, Morita N, Okumura K; Japanese Heart Rhythm Society Members
Heart Rhythm 2014 Dec;11(12):2247-53. Epub 2014 Aug 15 doi: 10.1016/j.hrthm.2014.08.021. PMID: 25131666
Nakae I, Mitsunami K, Matsuo S, Inubushi T, Morikawa S, Tsutamoto T, Koh T, Horie M
Circ J 2005 Jun;69(6):711-6. doi: 10.1253/circj.69.711. PMID: 15914951

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.

    Curated

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

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