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Hypertrophic cardiomyopathy 25(CMH25)

MedGen UID:
895360
Concept ID:
C4225408
Disease or Syndrome
Synonyms: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25; CMH25; TCAP-Related Dilated Cardiomyopathy
 
Gene (location): TCAP (17q12)
 
Monarch Initiative: MONDO:0011843
OMIM®: 607487

Definition

Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TCAP gene. [from MONDO]

Clinical features

From HPO
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.
Wolff-Parkinson-White pattern
MedGen UID:
12162
Concept ID:
C0043202
Disease or Syndrome
Wolff-Parkinson-White syndrome is a condition characterized by abnormal electrical pathways in the heart that cause a disruption of the heart's normal rhythm (arrhythmia).\n\nThe heartbeat is controlled by electrical signals that move through the heart in a highly coordinated way. A specialized cluster of cells called the atrioventricular node conducts electrical impulses from the heart's upper chambers (the atria) to the lower chambers (the ventricles). Impulses move through the atrioventricular node during each heartbeat, stimulating the ventricles to contract slightly later than the atria.\n\nPeople with Wolff-Parkinson-White syndrome are born with an extra connection in the heart, called an accessory pathway, that allows electrical signals to bypass the atrioventricular node and move from the atria to the ventricles faster than usual. The accessory pathway may also transmit electrical impulses abnormally from the ventricles back to the atria. This extra connection can disrupt the coordinated movement of electrical signals through the heart, leading to an abnormally fast heartbeat (tachycardia) and other changes in heart rhythm. Resulting symptoms include dizziness, a sensation of fluttering or pounding in the chest (palpitations), shortness of breath, and fainting (syncope). In rare cases, arrhythmias associated with Wolff-Parkinson-White syndrome can lead to cardiac arrest and sudden death. The most common arrhythmia associated with Wolff-Parkinson-White syndrome is called paroxysmal supraventricular tachycardia.\n\nComplications of Wolff-Parkinson-White syndrome can occur at any age, although some individuals born with an accessory pathway in the heart never experience any health problems associated with the condition.\n\nWolff-Parkinson-White syndrome often occurs with other structural abnormalities of the heart or underlying heart disease. The most common heart defect associated with the condition is Ebstein anomaly, which affects the valve that allows blood to flow from the right atrium to the right ventricle (the tricuspid valve). Additionally, the heart rhythm problems associated with Wolff-Parkinson-White syndrome can be a component of several other genetic syndromes, including hypokalemic periodic paralysis (a condition that causes episodes of extreme muscle weakness), Pompe disease (a disorder characterized by the storage of excess glycogen), Danon disease (a condition that weakens the heart and skeletal muscles and causes intellectual disability), and tuberous sclerosis complex (a condition that results in the growth of noncancerous tumors in many parts of the body).
Left ventricular hypertrophy
MedGen UID:
57442
Concept ID:
C0149721
Disease or Syndrome
Enlargement or increased size of the heart left ventricle.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Zhou N, Weng H, Zhao W, Tang L, Ge Z, Tian F, Meng F, Pan C, Shu X
Eur Heart J Cardiovasc Imaging 2023 Dec 21;25(1):127-135. doi: 10.1093/ehjci/jead200. PMID: 37561025
Ommen SR, Mital S, Burke MA, Day SM, Deswal A, Elliott P, Evanovich LL, Hung J, Joglar JA, Kantor P, Kimmelstiel C, Kittleson M, Link MS, Maron MS, Martinez MW, Miyake CY, Schaff HV, Semsarian C, Sorajja P
Circulation 2020 Dec 22;142(25):e533-e557. Epub 2020 Nov 20 doi: 10.1161/CIR.0000000000000938. PMID: 33215938
Ommen SR, Mital S, Burke MA, Day SM, Deswal A, Elliott P, Evanovich LL, Hung J, Joglar JA, Kantor P, Kimmelstiel C, Kittleson M, Link MS, Maron MS, Martinez MW, Miyake CY, Schaff HV, Semsarian C, Sorajja P
Circulation 2020 Dec 22;142(25):e558-e631. Epub 2020 Nov 20 doi: 10.1161/CIR.0000000000000937. PMID: 33215931

Recent clinical studies

Etiology

Losi MA, Monda E, Lombardi R, Lioncino M, Canciello G, Rubino M, Todde G, Caiazza M, Borrelli F, Fusco A, Cirillo A, Perillo EF, Sepe J, Pacella D, de Simone G, Calabro P, Esposito G, Limongelli G
Int J Cardiol 2024 Jan 15;395:131575. Epub 2023 Nov 10 doi: 10.1016/j.ijcard.2023.131575. PMID: 37951419
Ommen SR, Mital S, Burke MA, Day SM, Deswal A, Elliott P, Evanovich LL, Hung J, Joglar JA, Kantor P, Kimmelstiel C, Kittleson M, Link MS, Maron MS, Martinez MW, Miyake CY, Schaff HV, Semsarian C, Sorajja P
Circulation 2020 Dec 22;142(25):e533-e557. Epub 2020 Nov 20 doi: 10.1161/CIR.0000000000000938. PMID: 33215938
Ommen SR, Mital S, Burke MA, Day SM, Deswal A, Elliott P, Evanovich LL, Hung J, Joglar JA, Kantor P, Kimmelstiel C, Kittleson M, Link MS, Maron MS, Martinez MW, Miyake CY, Schaff HV, Semsarian C, Sorajja P
Circulation 2020 Dec 22;142(25):e558-e631. Epub 2020 Nov 20 doi: 10.1161/CIR.0000000000000937. PMID: 33215931
Price J, Clarke N, Turer A, Quintana E, Mestres C, Huffman L, Peltz M, Wait M, Ring WS, Jessen M, Bajona P
Asian Cardiovasc Thorac Ann 2017 Nov;25(9):594-607. Epub 2017 Sep 13 doi: 10.1177/0218492317733111. PMID: 28901158
Konno T, Chang S, Seidman JG, Seidman CE
Curr Opin Cardiol 2010 May;25(3):205-9. doi: 10.1097/HCO.0b013e3283375698. PMID: 20124998Free PMC Article

Diagnosis

Losi MA, Monda E, Lombardi R, Lioncino M, Canciello G, Rubino M, Todde G, Caiazza M, Borrelli F, Fusco A, Cirillo A, Perillo EF, Sepe J, Pacella D, de Simone G, Calabro P, Esposito G, Limongelli G
Int J Cardiol 2024 Jan 15;395:131575. Epub 2023 Nov 10 doi: 10.1016/j.ijcard.2023.131575. PMID: 37951419
Watkins H
Circulation 2021 Jun 22;143(25):2415-2417. Epub 2021 Jun 21 doi: 10.1161/CIRCULATIONAHA.121.053527. PMID: 34152793
Braunwald E
Eur Heart J 2021 Aug 17;42(31):2969-2970. doi: 10.1093/eurheartj/ehab337. PMID: 34151955
Ommen SR, Mital S, Burke MA, Day SM, Deswal A, Elliott P, Evanovich LL, Hung J, Joglar JA, Kantor P, Kimmelstiel C, Kittleson M, Link MS, Maron MS, Martinez MW, Miyake CY, Schaff HV, Semsarian C, Sorajja P
Circulation 2020 Dec 22;142(25):e533-e557. Epub 2020 Nov 20 doi: 10.1161/CIR.0000000000000938. PMID: 33215938
Said SM, Schaff HV
Semin Thorac Cardiovasc Surg 2013 Winter;25(4):300-9. Epub 2014 Jan 8 doi: 10.1053/j.semtcvs.2014.01.001. PMID: 24673959

Therapy

Norrish G, Gasparini M, Field E, Cervi E, Kaski JP
J Med Genet 2024 Apr 19;61(5):420-422. doi: 10.1136/jmg-2023-109684. PMID: 38296631Free PMC Article
Coelho T, Marques W Jr, Dasgupta NR, Chao CC, Parman Y, França MC Jr, Guo YC, Wixner J, Ro LS, Calandra CR, Kowacs PA, Berk JL, Obici L, Barroso FA, Weiler M, Conceição I, Jung SW, Buchele G, Brambatti M, Chen J, Hughes SG, Schneider E, Viney NJ, Masri A, Gertz MR, Ando Y, Gillmore JD, Khella S, Dyck PJB, Waddington Cruz M; NEURO-TTRansform Investigators
JAMA 2023 Oct 17;330(15):1448-1458. doi: 10.1001/jama.2023.18688. PMID: 37768671Free PMC Article
Lo ST, Walker AL, Georges CJ, Li RH, Stern JA
J Feline Med Surg 2022 Apr;24(4):277-283. Epub 2021 May 10 doi: 10.1177/1098612X211013736. PMID: 33966532Free PMC Article
Khan N, Chitturi KR, Hatcher C, Clewing M, Nagueh SF
Methodist Debakey Cardiovasc J 2021 Apr 5;17(1):65-67. Epub 2021 Mar 25 doi: 10.14797/VRZW9460. PMID: 34104323Free PMC Article
Said SM, Schaff HV
Semin Thorac Cardiovasc Surg 2013 Winter;25(4):300-9. Epub 2014 Jan 8 doi: 10.1053/j.semtcvs.2014.01.001. PMID: 24673959

Prognosis

Zhang Y, Adamo M, Zou C, Porcari A, Tomasoni D, Rossi M, Merlo M, Liu H, Wang J, Zhou P, Metra M, Sinagra G, Zhang J
J Cardiovasc Med (Hagerstown) 2024 Jun 1;25(6):399-419. Epub 2024 Apr 26 doi: 10.2459/JCM.0000000000001616. PMID: 38625835Free PMC Article
Losi MA, Monda E, Lombardi R, Lioncino M, Canciello G, Rubino M, Todde G, Caiazza M, Borrelli F, Fusco A, Cirillo A, Perillo EF, Sepe J, Pacella D, de Simone G, Calabro P, Esposito G, Limongelli G
Int J Cardiol 2024 Jan 15;395:131575. Epub 2023 Nov 10 doi: 10.1016/j.ijcard.2023.131575. PMID: 37951419
Wang Y, Jia H, Song J
Curr Cardiol Rep 2023 Oct;25(10):1299-1317. Epub 2023 Sep 15 doi: 10.1007/s11886-023-01944-0. PMID: 37721634Free PMC Article
Ommen SR, Mital S, Burke MA, Day SM, Deswal A, Elliott P, Evanovich LL, Hung J, Joglar JA, Kantor P, Kimmelstiel C, Kittleson M, Link MS, Maron MS, Martinez MW, Miyake CY, Schaff HV, Semsarian C, Sorajja P
Circulation 2020 Dec 22;142(25):e533-e557. Epub 2020 Nov 20 doi: 10.1161/CIR.0000000000000938. PMID: 33215938
Konno T, Chang S, Seidman JG, Seidman CE
Curr Opin Cardiol 2010 May;25(3):205-9. doi: 10.1097/HCO.0b013e3283375698. PMID: 20124998Free PMC Article

Clinical prediction guides

Jimenez E, El-Bokl A, Cortez D
J Electrocardiol 2021 Sep-Oct;68:80-84. Epub 2021 Aug 8 doi: 10.1016/j.jelectrocard.2021.08.004. PMID: 34392139
Ommen SR, Mital S, Burke MA, Day SM, Deswal A, Elliott P, Evanovich LL, Hung J, Joglar JA, Kantor P, Kimmelstiel C, Kittleson M, Link MS, Maron MS, Martinez MW, Miyake CY, Schaff HV, Semsarian C, Sorajja P
Circulation 2020 Dec 22;142(25):e533-e557. Epub 2020 Nov 20 doi: 10.1161/CIR.0000000000000938. PMID: 33215938
Ommen SR, Mital S, Burke MA, Day SM, Deswal A, Elliott P, Evanovich LL, Hung J, Joglar JA, Kantor P, Kimmelstiel C, Kittleson M, Link MS, Maron MS, Martinez MW, Miyake CY, Schaff HV, Semsarian C, Sorajja P
Circulation 2020 Dec 22;142(25):e558-e631. Epub 2020 Nov 20 doi: 10.1161/CIR.0000000000000937. PMID: 33215931
Heitner SB, Jacoby D, Lester SJ, Owens A, Wang A, Zhang D, Lambing J, Lee J, Semigran M, Sehnert AJ
Ann Intern Med 2019 Jun 4;170(11):741-748. Epub 2019 Apr 30 doi: 10.7326/M18-3016. PMID: 31035291
Amado LC, Lima JA
Curr Opin Cardiol 2010 May;25(3):276-81. doi: 10.1097/HCO.0b013e3283383d1d. PMID: 20224393

Recent systematic reviews

Cianci V, Forzese E, Sapienza D, Cardia L, Cianci A, Germanà A, Tornese L, Ieni A, Gualniera P, Asmundo A, Mondello C
Int J Mol Sci 2024 Jan 20;25(2) doi: 10.3390/ijms25021275. PMID: 38279275Free PMC Article
Monda E, Diana G, Graziani F, Rubino M, Bakalakos A, Linhart A, Germain DP, Scarpa M, Biagini E, Pieroni M, Elliott PM, Limongelli G
Circ Genom Precis Med 2023 Dec;16(6):e004252. Epub 2023 Dec 4 doi: 10.1161/CIRCGEN.123.004252. PMID: 38047356
Ezzeddine FM, Agboola KM, Hassett LC, Killu AM, Del-Carpio Munoz F, DeSimone CV, Kowlgi GN, Deshmukh AJ, Siontis KC
Europace 2023 Aug 2;25(9) doi: 10.1093/europace/euad256. PMID: 37595138Free PMC Article
Bayonas-Ruiz A, Muñoz-Franco FM, Sabater-Molina M, Oliva-Sandoval MJ, Gimeno JR, Bonacasa B
ESC Heart Fail 2023 Feb;10(1):8-23. Epub 2022 Oct 1 doi: 10.1002/ehf2.14142. PMID: 36181355Free PMC Article
Ramaswamy VV, Bandyopadhyay T, Nanda D, Bandiya P, Ahmed J, Garg A, Roehr CC, Nangia S
JAMA Pediatr 2021 Jun 1;175(6):e206826. Epub 2021 Jun 7 doi: 10.1001/jamapediatrics.2020.6826. PMID: 33720274Free PMC Article

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