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Hypertrophic cardiomyopathy 25(CMH25)

MedGen UID:
895360
Concept ID:
C4225408
Disease or Syndrome
Synonyms: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25; CMH25; Dilated cardiomyopathy 1N; 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

Seferović PM, Polovina M, Rosano G, Bozkurt B, Metra M, Heymans S, Mullens W, Bauersachs J, Sliwa K, de Boer RA, Farmakis D, Thum T, Olivotto I, Rapezzi C, Linhart A, Corrado D, Tschöpe C, Milinković I, Bayes Genis A, Filippatos G, Keren A, Ašanin M, Krljanac G, Maksimović R, Skouri H, Ben Gal T, Moura B, Volterrani M, Abdelhamid M, Lopatin Y, Chioncel O, Coats AJS
Eur J Heart Fail 2023 Nov;25(11):1899-1922. Epub 2023 Sep 24 doi: 10.1002/ejhf.2979. PMID: 37470300
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

Desai MY, Owens A, Geske JB, Wolski K, Saberi S, Wang A, Sherrid M, Cremer PC, Naidu SS, Smedira NG, Schaff H, McErlean E, Sewell C, Balasubramanyam A, Lampl K, Sehnert AJ, Nissen SE
Circulation 2023 Mar 14;147(11):850-863. Epub 2022 Nov 6 doi: 10.1161/CIRCULATIONAHA.122.062534. PMID: 36335531
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
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
J Am Coll Cardiol 2020 Dec 22;76(25):3022-3055. Epub 2020 Nov 20 doi: 10.1016/j.jacc.2020.08.044. PMID: 33229115
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

Diagnosis

Lopes LR, Garcia-Hernández S, Lorenzini M, Futema M, Chumakova O, Zateyshchikov D, Isidoro-Garcia M, Villacorta E, Escobar-Lopez L, Garcia-Pavia P, Bilbao R, Dobarro D, Sandin-Fuentes M, Catalli C, Gener Querol B, Mezcua A, Garcia Pinilla J, Bloch Rasmussen T, Ferreira-Aguar A, Revilla-Martí P, Basurte Elorz MT, Bautista Paves A, Ramon Gimeno J, Figueroa AV, Franco-Gutierrez R, Fuentes-Cañamero ME, Martinez Moreno M, Ortiz-Genga M, Piqueras-Flores J, Analia Ramos K, Rudzitis A, Ruiz-Guerrero L, Stein R, Triguero-Bocharán M, de la Higuera L, Ochoa JP, Abu-Bonsrah D, Kwok CYT, Smith JB, Porrello ER, Akhtar MM, Jager J, Ashworth M, Syrris P, Elliott DA, Monserrat L, Elliott PM
Eur Heart J 2021 Aug 21;42(32):3063-3073. doi: 10.1093/eurheartj/ehab424. PMID: 34263907Free 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
J Am Coll Cardiol 2020 Dec 22;76(25):3022-3055. Epub 2020 Nov 20 doi: 10.1016/j.jacc.2020.08.044. PMID: 33229115
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
Norrish G, Jager J, Field E, Quinn E, Fell H, Lord E, Cicerchia MN, Ochoa JP, Cervi E, Elliott PM, Kaski JP
Circulation 2019 Jul 16;140(3):184-192. Epub 2019 Apr 22 doi: 10.1161/CIRCULATIONAHA.118.038846. PMID: 31006259Free PMC Article

Therapy

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
Wheeler MT, Jacoby D, Elliott PM, Saberi S, Hegde SM, Lakdawala NK, Myers J, Sehnert AJ, Edelberg JM, Li W, Olivotto I
Eur J Heart Fail 2023 Feb;25(2):260-270. Epub 2023 Feb 1 doi: 10.1002/ejhf.2737. PMID: 36404399
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
Hegde SM, Lester SJ, Solomon SD, Michels M, Elliott PM, Nagueh SF, Choudhury L, Zemanek D, Zwas DR, Jacoby D, Wang A, Ho CY, Li W, Sehnert AJ, Olivotto I, Abraham TP
J Am Coll Cardiol 2021 Dec 21;78(25):2518-2532. doi: 10.1016/j.jacc.2021.09.1381. PMID: 34915982
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

Prognosis

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
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
Norrish G, Jager J, Field E, Quinn E, Fell H, Lord E, Cicerchia MN, Ochoa JP, Cervi E, Elliott PM, Kaski JP
Circulation 2019 Jul 16;140(3):184-192. Epub 2019 Apr 22 doi: 10.1161/CIRCULATIONAHA.118.038846. PMID: 31006259Free PMC Article
Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C, Benaiche A, Isnard R, Dubourg O, Burban M, Gueffet JP, Millaire A, Desnos M, Schwartz K, Hainque B, Komajda M; EUROGENE Heart Failure Project
Circulation 2003 May 6;107(17):2227-32. Epub 2003 Apr 21 doi: 10.1161/01.CIR.0000066323.15244.54. PMID: 12707239

Clinical prediction guides

Lampert R, Ackerman MJ, Marino BS, Burg M, Ainsworth B, Salberg L, Tome Esteban MT, Ho CY, Abraham R, Balaji S, Barth C, Berul CI, Bos M, Cannom D, Choudhury L, Concannon M, Cooper R, Czosek RJ, Dubin AM, Dziura J, Eidem B, Emery MS, Estes NAM, Etheridge SP, Geske JB, Gray B, Hall K, Harmon KG, James CA, Lal AK, Law IH, Li F, Link MS, McKenna WJ, Molossi S, Olshansky B, Ommen SR, Saarel EV, Saberi S, Simone L, Tomaselli G, Ware JS, Zipes DP, Day SM; LIVE Consortium
JAMA Cardiol 2023 Jun 1;8(6):595-605. doi: 10.1001/jamacardio.2023.1042. PMID: 37195701Free PMC Article
Dybro AM, Rasmussen TB, Nielsen RR, Andersen MJ, Jensen MK, Poulsen SH
J Am Coll Cardiol 2021 Dec 21;78(25):2505-2517. doi: 10.1016/j.jacc.2021.07.065. PMID: 34915981
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

Recent systematic reviews

Zhao H, Tan Z, Liu M, Yu P, Ma J, Li X, Wang J, Zhao Y, Zhu W, Liu X
J Am Heart Assoc 2023 Jun 6;12(11):e026270. Epub 2023 May 26 doi: 10.1161/JAHA.122.026270. PMID: 37232242Free PMC Article
Faraz F, Rehman MEU, Sabir B, Ghaffar A, Iftikhar A, Maqsood A, Ahmad Cheema H, Yasmin F, Aamir M, Ahmed MU, Asghar MS
Curr Probl Cardiol 2023 Mar;48(3):101524. Epub 2022 Nov 28 doi: 10.1016/j.cpcardiol.2022.101524. PMID: 36455792
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
Guttmann OP, Rahman MS, O'Mahony C, Anastasakis A, Elliott PM
Heart 2014 Mar;100(6):465-72. Epub 2013 Sep 7 doi: 10.1136/heartjnl-2013-304276. PMID: 24014282

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