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Hypertrophic cardiomyopathy 12(CMH12)

MedGen UID:
393755
Concept ID:
C2677491
Disease or Syndrome
Synonym: Familial hypertrophic cardiomyopathy 12
 
Gene (location): CSRP3 (11p15.1)
 
Monarch Initiative: MONDO:0012804
OMIM®: 612124

Definition

Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene. [from MONDO]

Clinical features

From HPO
Sudden cardiac death
MedGen UID:
38841
Concept ID:
C0085298
Pathologic Function
The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).
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.
Ventricular tachycardia
MedGen UID:
12068
Concept ID:
C0042514
Finding
A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms).
Paroxysmal atrial fibrillation
MedGen UID:
115990
Concept ID:
C0235480
Disease or Syndrome
Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously.
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 endsystolic diameter
MedGen UID:
1003567
Concept ID:
CN323097
Finding
A lower than normal left ventricular endsystolic diameter.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Margara F, Psaras Y, Wang ZJ, Schmid M, Doste R, Garfinkel AC, Repetti GG, Seidman JG, Seidman CE, Rodriguez B, Toepfer CN, Bueno-Orovio A
Sci Rep 2022 Dec 28;12(1):22501. doi: 10.1038/s41598-022-26889-2. PMID: 36577774Free PMC Article
Chuang C, Collibee S, Ashcraft L, Wang W, Vander Wal M, Wang X, Hwee DT, Wu Y, Wang J, Chin ER, Cremin P, Zamora J, Hartman J, Schaletzky J, Wehri E, Robertson LA, Malik FI, Morgan BP
J Med Chem 2021 Oct 14;64(19):14142-14152. Epub 2021 Oct 4 doi: 10.1021/acs.jmedchem.1c01290. PMID: 34606259
Teekakirikul P, Zhu W, Huang HC, Fung E
Biomolecules 2019 Dec 16;9(12) doi: 10.3390/biom9120878. PMID: 31888115Free PMC Article

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

Norrish G, Cleary A, Field E, Cervi E, Boleti O, Ziółkowska L, Olivotto I, Khraiche D, Limongelli G, Anastasakis A, Weintraub R, Biagini E, Ragni L, Prendiville T, Duignan S, McLeod K, Ilina M, Fernandez A, Marrone C, Bökenkamp R, Baban A, Kubus P, Daubeney PEF, Sarquella-Brugada G, Cesar S, Klaassen S, Ojala TH, Bhole V, Medrano C, Uzun O, Brown E, Gran F, Sinagra G, Castro FJ, Stuart G, Yamazawa H, Barriales-Villa R, Garcia-Guereta L, Adwani S, Linter K, Bharucha T, Gonzales-Lopez E, Siles A, Rasmussen TB, Calcagnino M, Jones CB, De Wilde H, Kubo T, Felice T, Popoiu A, Mogensen J, Mathur S, Centeno F, Reinhardt Z, Schouvey S, Elliott PM, Kaski JP
J Am Coll Cardiol 2022 May 24;79(20):1986-1997. doi: 10.1016/j.jacc.2022.03.347. PMID: 35589160Free PMC Article
L'Écuyer É, Codsi E, Mongeon FP, Dore A, Morin F, Leduc L
J Matern Fetal Neonatal Med 2022 Dec;35(25):8625-8630. Epub 2021 Oct 15 doi: 10.1080/14767058.2021.1990883. PMID: 34651531
Teekakirikul P, Zhu W, Huang HC, Fung E
Biomolecules 2019 Dec 16;9(12) doi: 10.3390/biom9120878. PMID: 31888115Free PMC Article
Semsarian C, Ingles J, Maron MS, Maron BJ
J Am Coll Cardiol 2015 Mar 31;65(12):1249-1254. doi: 10.1016/j.jacc.2015.01.019. PMID: 25814232
Elliott P, McKenna WJ
Lancet 2004 Jun 5;363(9424):1881-91. doi: 10.1016/S0140-6736(04)16358-7. PMID: 15183628

Diagnosis

Maron MS, Masri A, Choudhury L, Olivotto I, Saberi S, Wang A, Garcia-Pavia P, Lakdawala NK, Nagueh SF, Rader F, Tower-Rader A, Turer AT, Coats C, Fifer MA, Owens A, Solomon SD, Watkins H, Barriales-Villa R, Kramer CM, Wong TC, Paige SL, Heitner SB, Kupfer S, Malik FI, Meng L, Wohltman A, Abraham T; REDWOOD-HCM Steering Committee and Investigators
J Am Coll Cardiol 2023 Jan 3;81(1):34-45. doi: 10.1016/j.jacc.2022.10.020. PMID: 36599608
Norrish G, Cleary A, Field E, Cervi E, Boleti O, Ziółkowska L, Olivotto I, Khraiche D, Limongelli G, Anastasakis A, Weintraub R, Biagini E, Ragni L, Prendiville T, Duignan S, McLeod K, Ilina M, Fernandez A, Marrone C, Bökenkamp R, Baban A, Kubus P, Daubeney PEF, Sarquella-Brugada G, Cesar S, Klaassen S, Ojala TH, Bhole V, Medrano C, Uzun O, Brown E, Gran F, Sinagra G, Castro FJ, Stuart G, Yamazawa H, Barriales-Villa R, Garcia-Guereta L, Adwani S, Linter K, Bharucha T, Gonzales-Lopez E, Siles A, Rasmussen TB, Calcagnino M, Jones CB, De Wilde H, Kubo T, Felice T, Popoiu A, Mogensen J, Mathur S, Centeno F, Reinhardt Z, Schouvey S, Elliott PM, Kaski JP
J Am Coll Cardiol 2022 May 24;79(20):1986-1997. doi: 10.1016/j.jacc.2022.03.347. PMID: 35589160Free PMC Article
Yu T, Huang Z, Pu Z
Genes (Basel) 2022 Mar 17;13(3) doi: 10.3390/genes13030530. PMID: 35328083Free PMC Article
Teekakirikul P, Zhu W, Huang HC, Fung E
Biomolecules 2019 Dec 16;9(12) doi: 10.3390/biom9120878. PMID: 31888115Free PMC Article
Semsarian C, Ingles J, Maron MS, Maron BJ
J Am Coll Cardiol 2015 Mar 31;65(12):1249-1254. doi: 10.1016/j.jacc.2015.01.019. PMID: 25814232

Therapy

Desai MY, Owens A, Geske JB, Wolski K, Naidu SS, Smedira NG, Cremer PC, Schaff H, McErlean E, Sewell C, Li W, Sterling L, Lampl K, Edelberg JM, Sehnert AJ, Nissen SE
J Am Coll Cardiol 2022 Jul 12;80(2):95-108. doi: 10.1016/j.jacc.2022.04.048. PMID: 35798455
Norrish G, Cleary A, Field E, Cervi E, Boleti O, Ziółkowska L, Olivotto I, Khraiche D, Limongelli G, Anastasakis A, Weintraub R, Biagini E, Ragni L, Prendiville T, Duignan S, McLeod K, Ilina M, Fernandez A, Marrone C, Bökenkamp R, Baban A, Kubus P, Daubeney PEF, Sarquella-Brugada G, Cesar S, Klaassen S, Ojala TH, Bhole V, Medrano C, Uzun O, Brown E, Gran F, Sinagra G, Castro FJ, Stuart G, Yamazawa H, Barriales-Villa R, Garcia-Guereta L, Adwani S, Linter K, Bharucha T, Gonzales-Lopez E, Siles A, Rasmussen TB, Calcagnino M, Jones CB, De Wilde H, Kubo T, Felice T, Popoiu A, Mogensen J, Mathur S, Centeno F, Reinhardt Z, Schouvey S, Elliott PM, Kaski JP
J Am Coll Cardiol 2022 May 24;79(20):1986-1997. doi: 10.1016/j.jacc.2022.03.347. PMID: 35589160Free PMC Article
Harper AR, Goel A, Grace C, Thomson KL, Petersen SE, Xu X, Waring A, Ormondroyd E, Kramer CM, Ho CY, Neubauer S; HCMR Investigators, Tadros R, Ware JS, Bezzina CR, Farrall M, Watkins H
Nat Genet 2021 Feb;53(2):135-142. Epub 2021 Jan 25 doi: 10.1038/s41588-020-00764-0. PMID: 33495597Free PMC Article
Olivotto I, Oreziak A, Barriales-Villa R, Abraham TP, Masri A, Garcia-Pavia P, Saberi S, Lakdawala NK, Wheeler MT, Owens A, Kubanek M, Wojakowski W, Jensen MK, Gimeno-Blanes J, Afshar K, Myers J, Hegde SM, Solomon SD, Sehnert AJ, Zhang D, Li W, Bhattacharya M, Edelberg JM, Waldman CB, Lester SJ, Wang A, Ho CY, Jacoby D; EXPLORER-HCM study investigators
Lancet 2020 Sep 12;396(10253):759-769. Epub 2020 Aug 29 doi: 10.1016/S0140-6736(20)31792-X. PMID: 32871100
Teekakirikul P, Zhu W, Huang HC, Fung E
Biomolecules 2019 Dec 16;9(12) doi: 10.3390/biom9120878. PMID: 31888115Free PMC Article

Prognosis

Ho CY, Day SM, Ashley EA, Michels M, Pereira AC, Jacoby D, Cirino AL, Fox JC, Lakdawala NK, Ware JS, Caleshu CA, Helms AS, Colan SD, Girolami F, Cecchi F, Seidman CE, Sajeev G, Signorovitch J, Green EM, Olivotto I
Circulation 2018 Oct 2;138(14):1387-1398. Epub 2018 Aug 23 doi: 10.1161/CIRCULATIONAHA.117.033200. PMID: 30297972Free PMC Article
Semsarian C, Ingles J, Maron MS, Maron BJ
J Am Coll Cardiol 2015 Mar 31;65(12):1249-1254. doi: 10.1016/j.jacc.2015.01.019. PMID: 25814232
Wang J, Wang Y, Zou Y, Sun K, Wang Z, Ding H, Yuan J, Wei W, Hou Q, Wang H, Liu X, Zhang H, Ji Y, Zhou X, Sharma RK, Wang D, Ahmad F, Hui R, Song L
Eur J Heart Fail 2014 Sep;16(9):950-7. Epub 2014 Jul 31 doi: 10.1002/ejhf.144. PMID: 25132132
Elliott P, McKenna WJ
Lancet 2004 Jun 5;363(9424):1881-91. doi: 10.1016/S0140-6736(04)16358-7. PMID: 15183628
Braunwald E
N Engl J Med 1989 Mar 23;320(12):800-2. doi: 10.1056/NEJM198903233201209. PMID: 2537930

Clinical prediction guides

Maron MS, Masri A, Choudhury L, Olivotto I, Saberi S, Wang A, Garcia-Pavia P, Lakdawala NK, Nagueh SF, Rader F, Tower-Rader A, Turer AT, Coats C, Fifer MA, Owens A, Solomon SD, Watkins H, Barriales-Villa R, Kramer CM, Wong TC, Paige SL, Heitner SB, Kupfer S, Malik FI, Meng L, Wohltman A, Abraham T; REDWOOD-HCM Steering Committee and Investigators
J Am Coll Cardiol 2023 Jan 3;81(1):34-45. doi: 10.1016/j.jacc.2022.10.020. PMID: 36599608
Norrish G, Cleary A, Field E, Cervi E, Boleti O, Ziółkowska L, Olivotto I, Khraiche D, Limongelli G, Anastasakis A, Weintraub R, Biagini E, Ragni L, Prendiville T, Duignan S, McLeod K, Ilina M, Fernandez A, Marrone C, Bökenkamp R, Baban A, Kubus P, Daubeney PEF, Sarquella-Brugada G, Cesar S, Klaassen S, Ojala TH, Bhole V, Medrano C, Uzun O, Brown E, Gran F, Sinagra G, Castro FJ, Stuart G, Yamazawa H, Barriales-Villa R, Garcia-Guereta L, Adwani S, Linter K, Bharucha T, Gonzales-Lopez E, Siles A, Rasmussen TB, Calcagnino M, Jones CB, De Wilde H, Kubo T, Felice T, Popoiu A, Mogensen J, Mathur S, Centeno F, Reinhardt Z, Schouvey S, Elliott PM, Kaski JP
J Am Coll Cardiol 2022 May 24;79(20):1986-1997. doi: 10.1016/j.jacc.2022.03.347. PMID: 35589160Free PMC Article
Dybro AM, Rasmussen TB, Nielsen RR, Ladefoged BT, Andersen MJ, Jensen MK, Poulsen SH
J Am Coll Cardiol 2022 Apr 26;79(16):1565-1575. doi: 10.1016/j.jacc.2022.02.024. PMID: 35450573
Sen-Chowdhry S, Jacoby D, Moon JC, McKenna WJ
Nat Rev Cardiol 2016 Nov;13(11):651-675. Epub 2016 Sep 29 doi: 10.1038/nrcardio.2016.140. PMID: 27681577
Weng Z, Yao J, Chan RH, He J, Yang X, Zhou Y, He Y
JACC Cardiovasc Imaging 2016 Dec;9(12):1392-1402. Epub 2016 Jul 20 doi: 10.1016/j.jcmg.2016.02.031. PMID: 27450876

Recent systematic reviews

Yang Y, Wu D, Wang H, Wang Y
Clin Cardiol 2022 Dec;45(12):1184-1191. Epub 2022 Sep 30 doi: 10.1002/clc.23928. PMID: 36177652Free 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
Aimo A, Merlo M, Porcari A, Georgiopoulos G, Pagura L, Vergaro G, Sinagra G, Emdin M, Rapezzi C
Eur J Heart Fail 2022 Dec;24(12):2342-2351. Epub 2022 May 16 doi: 10.1002/ejhf.2532. PMID: 35509173Free 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
Pelliccia F, Pasceri V, Limongelli G, Autore C, Basso C, Corrado D, Imazio M, Rapezzi C, Sinagra G, Mercuro G; Working Group on Cardiomyopathies and Pericardial Diseases of the Italian Society of Cardiology
Int J Cardiol 2017 Sep 15;243:379-384. doi: 10.1016/j.ijcard.2017.06.071. PMID: 28747036

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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