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Familial hypertrophic cardiomyopathy 24(CMH24)

MedGen UID:
902873
Concept ID:
C4225414
Disease or Syndrome
Synonyms: Cardiomyopathy, hypertrophic, 24; CMH24
 
OMIM®: 601493; 605906

Professional guidelines

PubMed

García-Hernandez S, Iglesias LM
Curr Cardiol Rep 2022 Nov;24(11):1537-1546. Epub 2022 Aug 22 doi: 10.1007/s11886-022-01772-8. PMID: 35994197
Bales ND, Johnson NM, Judge DP, Murphy AM
Pediatr Cardiol 2016 Jun;37(5):845-51. Epub 2016 Mar 2 doi: 10.1007/s00246-016-1358-y. PMID: 26936621Free PMC Article
Technol Eval Cent Assess Program Exec Summ 2010 Aug;24(11):1-5. PMID: 21114064

Recent clinical studies

Etiology

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
García-Hernandez S, Iglesias LM
Curr Cardiol Rep 2022 Nov;24(11):1537-1546. Epub 2022 Aug 22 doi: 10.1007/s11886-022-01772-8. PMID: 35994197
Lamounier Junior A, Guitián González A, Rodríguez Vilela A, Repáraz Andrade A, Rubio Alcaide Á, Berta Sousa A, Benito López C, Alonso García D, Fernández Ferro G, Cruz I, Cárdenas Reyes IJ, Salazar-Mendiguchía García J, Larrañaga-Moreira JM, Ochoa JP, Palomino-Doza J, de la Higuera Romero L, Nicolás Cicerchia M, Restrepo Córdoba MA, Peña-Peña ML, Noël Brögger M, Loureiro M, Mogollón Jiménez MV, Bilbao Quesada R, Franco Gutiérrez R, García Hernández S, Ripoll-Vera T, Fernández X, Azevedo O, García Pavía P, Lopes LR, Ortiz M, Brito D, Barriales-Villa R, Monserrat Iglesias L
Rev Esp Cardiol (Engl Ed) 2022 Mar;75(3):242-250. Epub 2021 Feb 26 doi: 10.1016/j.rec.2021.01.001. PMID: 33642254
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
Alders M, Jongbloed R, Deelen W, van den Wijngaard A, Doevendans P, Ten Cate F, Regitz-Zagrosek V, Vosberg HP, van Langen I, Wilde A, Dooijes D, Mannens M
Eur Heart J 2003 Oct;24(20):1848-53. doi: 10.1016/s0195-668x(03)00466-4. PMID: 14563344

Diagnosis

Garcia-Pavia P, Damy T, Piriou N, Barriales-Villa R, Cappelli F, Bahus C, Munteanu C, Keohane D, Mallaina P, Elliott P; TTRACK investigators
ESC Heart Fail 2024 Dec;11(6):4314-4324. Epub 2024 Aug 29 doi: 10.1002/ehf2.14971. PMID: 39210606Free PMC Article
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
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
Ingles J, Goldstein J, Thaxton C, Caleshu C, Corty EW, Crowley SB, Dougherty K, Harrison SM, McGlaughon J, Milko LV, Morales A, Seifert BA, Strande N, Thomson K, Peter van Tintelen J, Wallace K, Walsh R, Wells Q, Whiffin N, Witkowski L, Semsarian C, Ware JS, Hershberger RE, Funke B
Circ Genom Precis Med 2019 Feb;12(2):e002460. doi: 10.1161/CIRCGEN.119.002460. PMID: 30681346Free PMC Article
Ho CY, Seidman CE
Circulation 2006 Jun 20;113(24):e858-62. doi: 10.1161/CIRCULATIONAHA.105.591982. PMID: 16785342

Therapy

Conceição I, Berk JL, Weiler M, Kowacs PA, Dasgupta NR, Khella S, Chao CC, Attarian S, Kwoh TJ, Jung SW, Chen J, Viney NJ, Yu RZ, Gertz M, Masri A, Cruz MW, Coelho T
J Neurol 2024 Oct;271(10):6655-6666. Epub 2024 Aug 13 doi: 10.1007/s00415-024-12616-6. PMID: 39138650Free 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
Alsulami K, Marston S
Int J Mol Sci 2020 Dec 16;21(24) doi: 10.3390/ijms21249599. PMID: 33339418Free PMC Article
Lopes LR, Rahman MS, Elliott PM
Heart 2013 Dec;99(24):1800-11. Epub 2013 May 14 doi: 10.1136/heartjnl-2013-303939. PMID: 23674365
Ho CY, Seidman CE
Circulation 2006 Jun 20;113(24):e858-62. doi: 10.1161/CIRCULATIONAHA.105.591982. PMID: 16785342

Prognosis

Dedeoglu S, Dede E, Oztunc F, Gedikbasi A, Yesil G, Dedeoglu R
Orphanet J Rare Dis 2022 Sep 15;17(1):359. doi: 10.1186/s13023-022-02483-7. PMID: 36109815Free PMC Article
Antonopoulos AS, Panagiotopoulos I, Kouroutzoglou A, Koutsis G, Toskas P, Lazaros G, Toutouzas K, Tousoulis D, Tsioufis K, Vlachopoulos C
Eur J Heart Fail 2022 Sep;24(9):1677-1696. Epub 2022 Aug 2 doi: 10.1002/ejhf.2589. PMID: 35730461
Lamounier Junior A, Guitián González A, Rodríguez Vilela A, Repáraz Andrade A, Rubio Alcaide Á, Berta Sousa A, Benito López C, Alonso García D, Fernández Ferro G, Cruz I, Cárdenas Reyes IJ, Salazar-Mendiguchía García J, Larrañaga-Moreira JM, Ochoa JP, Palomino-Doza J, de la Higuera Romero L, Nicolás Cicerchia M, Restrepo Córdoba MA, Peña-Peña ML, Noël Brögger M, Loureiro M, Mogollón Jiménez MV, Bilbao Quesada R, Franco Gutiérrez R, García Hernández S, Ripoll-Vera T, Fernández X, Azevedo O, García Pavía P, Lopes LR, Ortiz M, Brito D, Barriales-Villa R, Monserrat Iglesias L
Rev Esp Cardiol (Engl Ed) 2022 Mar;75(3):242-250. Epub 2021 Feb 26 doi: 10.1016/j.rec.2021.01.001. PMID: 33642254
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
Tobita T, Nomura S, Fujita T, Morita H, Asano Y, Onoue K, Ito M, Imai Y, Suzuki A, Ko T, Satoh M, Fujita K, Naito AT, Furutani Y, Toko H, Harada M, Amiya E, Hatano M, Takimoto E, Shiga T, Nakanishi T, Sakata Y, Ono M, Saito Y, Takashima S, Hagiwara N, Aburatani H, Komuro I
Sci Rep 2018 Jan 31;8(1):1998. doi: 10.1038/s41598-018-20114-9. PMID: 29386531Free PMC Article

Clinical prediction guides

Garcia-Pavia P, Damy T, Piriou N, Barriales-Villa R, Cappelli F, Bahus C, Munteanu C, Keohane D, Mallaina P, Elliott P; TTRACK investigators
ESC Heart Fail 2024 Dec;11(6):4314-4324. Epub 2024 Aug 29 doi: 10.1002/ehf2.14971. PMID: 39210606Free 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
Dedeoglu S, Dede E, Oztunc F, Gedikbasi A, Yesil G, Dedeoglu R
Orphanet J Rare Dis 2022 Sep 15;17(1):359. doi: 10.1186/s13023-022-02483-7. PMID: 36109815Free PMC Article
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
Refaat MM, Hotait M, London B
Curr Cardiol Rep 2015 Jul;17(7):606. doi: 10.1007/s11886-015-0606-8. PMID: 26026997

Recent systematic reviews

Antonopoulos AS, Panagiotopoulos I, Kouroutzoglou A, Koutsis G, Toskas P, Lazaros G, Toutouzas K, Tousoulis D, Tsioufis K, Vlachopoulos C
Eur J Heart Fail 2022 Sep;24(9):1677-1696. Epub 2022 Aug 2 doi: 10.1002/ejhf.2589. PMID: 35730461
Lopes LR, Rahman MS, Elliott PM
Heart 2013 Dec;99(24):1800-11. Epub 2013 May 14 doi: 10.1136/heartjnl-2013-303939. PMID: 23674365

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