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Cardiomyopathy associated with myopathy and sudden death

MedGen UID:
395232
Concept ID:
C1859328
Disease or Syndrome
Synonym: Cardiomyopathy Associated With Myopathy And Sudden Death
 
Monarch Initiative: MONDO:0008916
OMIM®: 212130

Clinical features

From HPO
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.
Myopathy
MedGen UID:
10135
Concept ID:
C0026848
Disease or Syndrome
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.

Professional guidelines

PubMed

Majewski J, Varma M, Davis G, Lelakowski J
Pol Merkur Lekarski 2019 Oct 29;47(280):153-156. PMID: 31760399
Ader F, De Groote P, Réant P, Rooryck-Thambo C, Dupin-Deguine D, Rambaud C, Khraiche D, Perret C, Pruny JF, Mathieu-Dramard M, Gérard M, Troadec Y, Gouya L, Jeunemaitre X, Van Maldergem L, Hagège A, Villard E, Charron P, Richard P
Clin Genet 2019 Oct;96(4):317-329. Epub 2019 Jul 18 doi: 10.1111/cge.13594. PMID: 31245841
Seward JB, Tajik AJ
Cardiovasc Clin 1980;10(3):199-230. PMID: 6445779

Recent clinical studies

Etiology

Savvatis K, Vissing CR, Klouvi L, Florian A, Rahman M, Béhin A, Fayssoil A, Masingue M, Stojkovic T, Bécane HM, Berber N, Mochel F, Duboc D, Fontaine B, Krett B, Stalens C, Lejeune J, Pitceathly RDS, Lopes L, Saadi M, Gossios T, Procaccio V, Spinazzi M, Tard C, De Groote P, Dhaenens CM, Douillard C, Echaniz-Laguna A, Quinlivan R, Hanna MG, Yilmaz A, Vissing J, Laforêt P, Elliott P, Wahbi K
J Am Coll Cardiol 2022 Oct 11;80(15):1421-1430. doi: 10.1016/j.jacc.2022.08.716. PMID: 36202532
Restrepo-Cordoba MA, Wahbi K, Florian AR, Jiménez-Jáimez J, Politano L, Arad M, Climent-Paya V, Garcia-Alvarez A, Hansen RB, Larrañaga-Moreira JM, Kubanek M, Lopes LR, Ros A, Jurcut R, Rasmussen TB, Ruiz-Guerrero L, Pribe-Wolferts R, Palomino-Doza J, Bilinska Z, Rodríguez-Palomares JF, Van Loon RLE, Basurte Elorz MT, Quarta G, Robledo Iñarritu M, Verdonschot JAJ, Stojkovic T, Shomanova Z, Bermudez-Jimenez F, Palladino A, Freimark D, García-Álvarez MI, Jorda P, Dominguez F, Ochoa JP, Girolami F, Brugada R, Meder B, Barriales-Villa R, Mogensen J, Laforêt P, Yilmaz A, Elliott P, Garcia-Pavia P; European Genetic Cardiomyopathies Initiative Investigators (see online supplementary Appendix S1)
Eur J Heart Fail 2021 Aug;23(8):1276-1286. Epub 2021 Jun 9 doi: 10.1002/ejhf.2250. PMID: 34050592
Oflazer P
Acta Myol 2020 Dec;39(4):302-306. Epub 2020 Dec 1 doi: 10.36185/2532-1900-033. PMID: 33458585Free PMC Article
Verdonschot JAJ, Vanhoutte EK, Claes GRF, Helderman-van den Enden ATJM, Hoeijmakers JGJ, Hellebrekers DMEI, de Haan A, Christiaans I, Lekanne Deprez RH, Boen HM, van Craenenbroeck EM, Loeys BL, Hoedemaekers YM, Marcelis C, Kempers M, Brusse E, van Waning JI, Baas AF, Dooijes D, Asselbergs FW, Barge-Schaapveld DQCM, Koopman P, van den Wijngaard A, Heymans SRB, Krapels IPC, Brunner HG
Hum Mutat 2020 Jun;41(6):1091-1111. Epub 2020 Mar 20 doi: 10.1002/humu.24004. PMID: 32112656Free PMC Article
Ortiz-Genga MF, Cuenca S, Dal Ferro M, Zorio E, Salgado-Aranda R, Climent V, Padrón-Barthe L, Duro-Aguado I, Jiménez-Jáimez J, Hidalgo-Olivares VM, García-Campo E, Lanzillo C, Suárez-Mier MP, Yonath H, Marcos-Alonso S, Ochoa JP, Santomé JL, García-Giustiniani D, Rodríguez-Garrido JL, Domínguez F, Merlo M, Palomino J, Peña ML, Trujillo JP, Martín-Vila A, Stolfo D, Molina P, Lara-Pezzi E, Calvo-Iglesias FE, Nof E, Calò L, Barriales-Villa R, Gimeno-Blanes JR, Arad M, García-Pavía P, Monserrat L
J Am Coll Cardiol 2016 Dec 6;68(22):2440-2451. doi: 10.1016/j.jacc.2016.09.927. PMID: 27908349

Diagnosis

Oflazer P
Acta Myol 2020 Dec;39(4):302-306. Epub 2020 Dec 1 doi: 10.36185/2532-1900-033. PMID: 33458585Free PMC Article
Ortiz-Genga MF, Cuenca S, Dal Ferro M, Zorio E, Salgado-Aranda R, Climent V, Padrón-Barthe L, Duro-Aguado I, Jiménez-Jáimez J, Hidalgo-Olivares VM, García-Campo E, Lanzillo C, Suárez-Mier MP, Yonath H, Marcos-Alonso S, Ochoa JP, Santomé JL, García-Giustiniani D, Rodríguez-Garrido JL, Domínguez F, Merlo M, Palomino J, Peña ML, Trujillo JP, Martín-Vila A, Stolfo D, Molina P, Lara-Pezzi E, Calvo-Iglesias FE, Nof E, Calò L, Barriales-Villa R, Gimeno-Blanes JR, Arad M, García-Pavía P, Monserrat L
J Am Coll Cardiol 2016 Dec 6;68(22):2440-2451. doi: 10.1016/j.jacc.2016.09.927. PMID: 27908349
Cheng Z, Fang Q
J Hum Genet 2012 Jul;57(7):407-10. Epub 2012 Jun 14 doi: 10.1038/jhg.2012.72. PMID: 22695892
van Spaendonck-Zwarts KY, van Hessem L, Jongbloed JD, de Walle HE, Capetanaki Y, van der Kooi AJ, van Langen IM, van den Berg MP, van Tintelen JP
Clin Genet 2011 Oct;80(4):354-66. Epub 2010 Jul 21 doi: 10.1111/j.1399-0004.2010.01512.x. PMID: 20718792
Goldfarb LG, Vicart P, Goebel HH, Dalakas MC
Brain 2004 Apr;127(Pt 4):723-34. Epub 2004 Jan 14 doi: 10.1093/brain/awh033. PMID: 14724127

Therapy

Atalaia A, Ben Yaou R, Wahbi K, De Sandre-Giovannoli A, Vigouroux C, Bonne G
J Neuromuscul Dis 2021;8(3):419-439. doi: 10.3233/JND-200596. PMID: 33682723Free PMC Article
Kumar S, Joginpally T, Kim D, Yadava M, Norgais K, Laird-Fick HS
Cardiovasc Toxicol 2016 Oct;16(4):370-3. doi: 10.1007/s12012-015-9348-5. PMID: 26613951
Frassati D, Tabib A, Lachaux B, Giloux N, Daléry J, Vittori F, Charvet D, Barel C, Bui-Xuan B, Mégard R, Jenoudet LP, Descotes J, Vial T, Timour Q
Can J Psychiatry 2004 Feb;49(2):100-5. doi: 10.1177/070674370404900204. PMID: 15065743
Franz WM, Müller OJ, Katus HA
Lancet 2001 Nov 10;358(9293):1627-37. doi: 10.1016/S0140-6736(01)06657-0. PMID: 11716909
Sullivan ML, Martinez CM, Gennis P, Gallagher EJ
Prog Cardiovasc Dis 1998 Jul-Aug;41(1):1-15. doi: 10.1016/s0033-0620(98)80019-4. PMID: 9717856

Prognosis

Savvatis K, Vissing CR, Klouvi L, Florian A, Rahman M, Béhin A, Fayssoil A, Masingue M, Stojkovic T, Bécane HM, Berber N, Mochel F, Duboc D, Fontaine B, Krett B, Stalens C, Lejeune J, Pitceathly RDS, Lopes L, Saadi M, Gossios T, Procaccio V, Spinazzi M, Tard C, De Groote P, Dhaenens CM, Douillard C, Echaniz-Laguna A, Quinlivan R, Hanna MG, Yilmaz A, Vissing J, Laforêt P, Elliott P, Wahbi K
J Am Coll Cardiol 2022 Oct 11;80(15):1421-1430. doi: 10.1016/j.jacc.2022.08.716. PMID: 36202532
Sridharan A, Maron MS, Carrick RT, Madias CA, Huang D, Cooper C, Drummond J, Maron BJ, Rowin EJ
J Cardiovasc Electrophysiol 2022 Jan;33(1):20-29. Epub 2021 Dec 8 doi: 10.1111/jce.15304. PMID: 34845799Free PMC Article
Restrepo-Cordoba MA, Wahbi K, Florian AR, Jiménez-Jáimez J, Politano L, Arad M, Climent-Paya V, Garcia-Alvarez A, Hansen RB, Larrañaga-Moreira JM, Kubanek M, Lopes LR, Ros A, Jurcut R, Rasmussen TB, Ruiz-Guerrero L, Pribe-Wolferts R, Palomino-Doza J, Bilinska Z, Rodríguez-Palomares JF, Van Loon RLE, Basurte Elorz MT, Quarta G, Robledo Iñarritu M, Verdonschot JAJ, Stojkovic T, Shomanova Z, Bermudez-Jimenez F, Palladino A, Freimark D, García-Álvarez MI, Jorda P, Dominguez F, Ochoa JP, Girolami F, Brugada R, Meder B, Barriales-Villa R, Mogensen J, Laforêt P, Yilmaz A, Elliott P, Garcia-Pavia P; European Genetic Cardiomyopathies Initiative Investigators (see online supplementary Appendix S1)
Eur J Heart Fail 2021 Aug;23(8):1276-1286. Epub 2021 Jun 9 doi: 10.1002/ejhf.2250. PMID: 34050592
Verdonschot JAJ, Vanhoutte EK, Claes GRF, Helderman-van den Enden ATJM, Hoeijmakers JGJ, Hellebrekers DMEI, de Haan A, Christiaans I, Lekanne Deprez RH, Boen HM, van Craenenbroeck EM, Loeys BL, Hoedemaekers YM, Marcelis C, Kempers M, Brusse E, van Waning JI, Baas AF, Dooijes D, Asselbergs FW, Barge-Schaapveld DQCM, Koopman P, van den Wijngaard A, Heymans SRB, Krapels IPC, Brunner HG
Hum Mutat 2020 Jun;41(6):1091-1111. Epub 2020 Mar 20 doi: 10.1002/humu.24004. PMID: 32112656Free PMC Article
Ortiz-Genga MF, Cuenca S, Dal Ferro M, Zorio E, Salgado-Aranda R, Climent V, Padrón-Barthe L, Duro-Aguado I, Jiménez-Jáimez J, Hidalgo-Olivares VM, García-Campo E, Lanzillo C, Suárez-Mier MP, Yonath H, Marcos-Alonso S, Ochoa JP, Santomé JL, García-Giustiniani D, Rodríguez-Garrido JL, Domínguez F, Merlo M, Palomino J, Peña ML, Trujillo JP, Martín-Vila A, Stolfo D, Molina P, Lara-Pezzi E, Calvo-Iglesias FE, Nof E, Calò L, Barriales-Villa R, Gimeno-Blanes JR, Arad M, García-Pavía P, Monserrat L
J Am Coll Cardiol 2016 Dec 6;68(22):2440-2451. doi: 10.1016/j.jacc.2016.09.927. PMID: 27908349

Clinical prediction guides

Savvatis K, Vissing CR, Klouvi L, Florian A, Rahman M, Béhin A, Fayssoil A, Masingue M, Stojkovic T, Bécane HM, Berber N, Mochel F, Duboc D, Fontaine B, Krett B, Stalens C, Lejeune J, Pitceathly RDS, Lopes L, Saadi M, Gossios T, Procaccio V, Spinazzi M, Tard C, De Groote P, Dhaenens CM, Douillard C, Echaniz-Laguna A, Quinlivan R, Hanna MG, Yilmaz A, Vissing J, Laforêt P, Elliott P, Wahbi K
J Am Coll Cardiol 2022 Oct 11;80(15):1421-1430. doi: 10.1016/j.jacc.2022.08.716. PMID: 36202532
Sridharan A, Maron MS, Carrick RT, Madias CA, Huang D, Cooper C, Drummond J, Maron BJ, Rowin EJ
J Cardiovasc Electrophysiol 2022 Jan;33(1):20-29. Epub 2021 Dec 8 doi: 10.1111/jce.15304. PMID: 34845799Free PMC Article
Majewski J, Varma M, Davis G, Lelakowski J
Pol Merkur Lekarski 2019 Oct 29;47(280):153-156. PMID: 31760399
Ortiz-Genga MF, Cuenca S, Dal Ferro M, Zorio E, Salgado-Aranda R, Climent V, Padrón-Barthe L, Duro-Aguado I, Jiménez-Jáimez J, Hidalgo-Olivares VM, García-Campo E, Lanzillo C, Suárez-Mier MP, Yonath H, Marcos-Alonso S, Ochoa JP, Santomé JL, García-Giustiniani D, Rodríguez-Garrido JL, Domínguez F, Merlo M, Palomino J, Peña ML, Trujillo JP, Martín-Vila A, Stolfo D, Molina P, Lara-Pezzi E, Calvo-Iglesias FE, Nof E, Calò L, Barriales-Villa R, Gimeno-Blanes JR, Arad M, García-Pavía P, Monserrat L
J Am Coll Cardiol 2016 Dec 6;68(22):2440-2451. doi: 10.1016/j.jacc.2016.09.927. PMID: 27908349
Bonafé L, Berger MM, Que YA, Mechanick JI
Curr Opin Clin Nutr Metab Care 2014 Mar;17(2):200-9. doi: 10.1097/MCO.0000000000000037. PMID: 24500444

Recent systematic reviews

Atalaia A, Ben Yaou R, Wahbi K, De Sandre-Giovannoli A, Vigouroux C, Bonne G
J Neuromuscul Dis 2021;8(3):419-439. doi: 10.3233/JND-200596. PMID: 33682723Free PMC Article
Imamura T, Sumitomo N, Muraji S, Mori H, Osada Y, Oyanagi T, Kojima T, Yoshiba S, Kobayashi T, Ono K
Int J Cardiol 2019 Mar 15;279:105-111. Epub 2018 Dec 27 doi: 10.1016/j.ijcard.2018.12.064. PMID: 30642644
da Silva TD, Massetti T, Crocetta TB, de Mello Monteiro CB, Carll A, Vanderlei LCM, Arbaugh C, Oliveira FR, de Abreu LC, Ferreira Filho C, Godleski J, Ferreira C
Pediatr Cardiol 2018 Jun;39(5):869-883. Epub 2018 Apr 25 doi: 10.1007/s00246-018-1881-0. PMID: 29696428
Kabunga P, Lau AK, Phan K, Puranik R, Liang C, Davis RL, Sue CM, Sy RW
Int J Cardiol 2015 Feb 15;181:303-10. Epub 2014 Dec 13 doi: 10.1016/j.ijcard.2014.12.038. PMID: 25540845

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