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Hypertrophic cardiomyopathy 15(CMH15)

MedGen UID:
413312
Concept ID:
C2750459
Disease or Syndrome
Synonym: Familial hypertrophic cardiomyopathy 15
 
Gene (location): VCL (10q22.2)
 
Monarch Initiative: MONDO:0013200
OMIM®: 613255

Definition

Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the VCL 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.
Congestive heart failure
MedGen UID:
9169
Concept ID:
C0018802
Disease or Syndrome
The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.
Left ventricular outflow tract obstruction
MedGen UID:
6031
Concept ID:
C0023213
Disease or Syndrome
Left ventricular outflow tract (LVOT) obstruction can occur at the valvular, subvalvular, or supravalvular level. In general, there is an obstruction to forward flow which increases afterload, and if untreated, can result in hypertrophy, dilatation, and eventual failure of the left ventricle.
Endocardial fibrosis
MedGen UID:
107513
Concept ID:
C0553980
Finding
The presence of excessive connective tissue in the endocardium.
Pulmonary arterial hypertension
MedGen UID:
425404
Concept ID:
C2973725
Disease or Syndrome
Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.
Myofiber disarray
MedGen UID:
1615672
Concept ID:
C3671015
Finding
A nonparallel arrangement of cardiac myocytes.
Apical hypertrophic cardiomyopathy
MedGen UID:
1671104
Concept ID:
C4732796
Disease or Syndrome
Apical hypertrophic cardiomyopathy (AHCM) is diastolic dysfunction due to abnormal stiffness of the left ventricle during diastole, with resultant impaired ventricular filling. In AHCM thickened apical segments produce a crowded, spade-shaped, small apical cavity.
Hyperdynamic left ventricular ejection fraction
MedGen UID:
1815066
Concept ID:
C5706160
Finding
An abnoramlly increased ejection fraction of the left ventricle, usually defined as a left ventricular ejection fraction greater than 70 percent.
Exertional dyspnea
MedGen UID:
68549
Concept ID:
C0231807
Sign or Symptom
Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest.
Cardiomyocyte hypertrophy
MedGen UID:
909741
Concept ID:
C4227331
Finding
An increase in cell size, enhanced protein synthesis, and heightened organization of the sarcomere within cardiac myocytes.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Ismayl M, Abbasi MA, Marar R, Geske JB, Gersh BJ, Anavekar NS
Curr Probl Cardiol 2023 Jan;48(1):101429. Epub 2022 Sep 24 doi: 10.1016/j.cpcardiol.2022.101429. PMID: 36167226
Bonaventura J, Polakova E, Vejtasova V, Veselka J
Int J Mol Sci 2021 Sep 27;22(19) doi: 10.3390/ijms221910401. PMID: 34638741Free PMC Article
Alfares AA, Kelly MA, McDermott G, Funke BH, Lebo MS, Baxter SB, Shen J, McLaughlin HM, Clark EH, Babb LJ, Cox SW, DePalma SR, Ho CY, Seidman JG, Seidman CE, Rehm HL
Genet Med 2015 Nov;17(11):880-8. Epub 2015 Jan 22 doi: 10.1038/gim.2014.205. PMID: 25611685

Recent clinical studies

Etiology

Mascia G, Crotti L, Groppelli A, Canepa M, Merlo AC, Benenati S, Di Donna P, Della Bona R, Soranna D, Zambon A, Porto I, Olivotto I, Parati G, Brignole M, Cecchi F
Int J Cardiol 2022 Jun 15;357:88-94. Epub 2022 Mar 15 doi: 10.1016/j.ijcard.2022.03.028. PMID: 35304190
Liu J, Zhao S, Yu S, Wu G, Wang D, Liu L, Song J, Zhu Y, Kang L, Wang J, Song L
Radiology 2022 Feb;302(2):298-306. Epub 2021 Nov 2 doi: 10.1148/radiol.2021210914. PMID: 34726536
Neubauer S, Kolm P, Ho CY, Kwong RY, Desai MY, Dolman SF, Appelbaum E, Desvigne-Nickens P, DiMarco JP, Friedrich MG, Geller N, Harper AR, Jarolim P, Jerosch-Herold M, Kim DY, Maron MS, Schulz-Menger J, Piechnik SK, Thomson K, Zhang C, Watkins H, Weintraub WS, Kramer CM; HCMR Investigators
J Am Coll Cardiol 2019 Nov 12;74(19):2333-2345. doi: 10.1016/j.jacc.2019.08.1057. PMID: 31699273Free PMC Article
Veselka J, Anavekar NS, Charron P
Lancet 2017 Mar 25;389(10075):1253-1267. Epub 2016 Nov 30 doi: 10.1016/S0140-6736(16)31321-6. PMID: 27912983
O'Mahony C, Jichi F, Pavlou M, Monserrat L, Anastasakis A, Rapezzi C, Biagini E, Gimeno JR, Limongelli G, McKenna WJ, Omar RZ, Elliott PM; Hypertrophic Cardiomyopathy Outcomes Investigators
Eur Heart J 2014 Aug 7;35(30):2010-20. Epub 2013 Oct 14 doi: 10.1093/eurheartj/eht439. PMID: 24126876

Diagnosis

Roldan P, Ravi S, Hodovan J, Belcik JT, Heitner SB, Masri A, Lindner JR
Cardiovasc Ultrasound 2022 Sep 19;20(1):23. doi: 10.1186/s12947-022-00293-2. PMID: 36117179Free PMC Article
Mascia G, Crotti L, Groppelli A, Canepa M, Merlo AC, Benenati S, Di Donna P, Della Bona R, Soranna D, Zambon A, Porto I, Olivotto I, Parati G, Brignole M, Cecchi F
Int J Cardiol 2022 Jun 15;357:88-94. Epub 2022 Mar 15 doi: 10.1016/j.ijcard.2022.03.028. PMID: 35304190
Neubauer S, Kolm P, Ho CY, Kwong RY, Desai MY, Dolman SF, Appelbaum E, Desvigne-Nickens P, DiMarco JP, Friedrich MG, Geller N, Harper AR, Jarolim P, Jerosch-Herold M, Kim DY, Maron MS, Schulz-Menger J, Piechnik SK, Thomson K, Zhang C, Watkins H, Weintraub WS, Kramer CM; HCMR Investigators
J Am Coll Cardiol 2019 Nov 12;74(19):2333-2345. doi: 10.1016/j.jacc.2019.08.1057. PMID: 31699273Free PMC Article
Veselka J, Anavekar NS, Charron P
Lancet 2017 Mar 25;389(10075):1253-1267. Epub 2016 Nov 30 doi: 10.1016/S0140-6736(16)31321-6. PMID: 27912983
O'Mahony C, Jichi F, Pavlou M, Monserrat L, Anastasakis A, Rapezzi C, Biagini E, Gimeno JR, Limongelli G, McKenna WJ, Omar RZ, Elliott PM; Hypertrophic Cardiomyopathy Outcomes Investigators
Eur Heart J 2014 Aug 7;35(30):2010-20. Epub 2013 Oct 14 doi: 10.1093/eurheartj/eht439. PMID: 24126876

Therapy

Ismayl M, Abbasi MA, Marar R, Geske JB, Gersh BJ, Anavekar NS
Curr Probl Cardiol 2023 Jan;48(1):101429. Epub 2022 Sep 24 doi: 10.1016/j.cpcardiol.2022.101429. PMID: 36167226
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
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
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
Lee TM, Hsu DT, Kantor P, Towbin JA, Ware SM, Colan SD, Chung WK, Jefferies JL, Rossano JW, Castleberry CD, Addonizio LJ, Lal AK, Lamour JM, Miller EM, Thrush PT, Czachor JD, Razoky H, Hill A, Lipshultz SE
Circ Res 2017 Sep 15;121(7):855-873. doi: 10.1161/CIRCRESAHA.116.309386. PMID: 28912187Free PMC Article

Prognosis

Liu J, Zhao S, Yu S, Wu G, Wang D, Liu L, Song J, Zhu Y, Kang L, Wang J, Song L
Radiology 2022 Feb;302(2):298-306. Epub 2021 Nov 2 doi: 10.1148/radiol.2021210914. PMID: 34726536
Lorenzini M, Norrish G, Field E, Ochoa JP, Cicerchia M, Akhtar MM, Syrris P, Lopes LR, Kaski JP, Elliott PM
J Am Coll Cardiol 2020 Aug 4;76(5):550-559. doi: 10.1016/j.jacc.2020.06.011. PMID: 32731933Free PMC Article
Neubauer S, Kolm P, Ho CY, Kwong RY, Desai MY, Dolman SF, Appelbaum E, Desvigne-Nickens P, DiMarco JP, Friedrich MG, Geller N, Harper AR, Jarolim P, Jerosch-Herold M, Kim DY, Maron MS, Schulz-Menger J, Piechnik SK, Thomson K, Zhang C, Watkins H, Weintraub WS, Kramer CM; HCMR Investigators
J Am Coll Cardiol 2019 Nov 12;74(19):2333-2345. doi: 10.1016/j.jacc.2019.08.1057. PMID: 31699273Free PMC Article
O'Mahony C, Jichi F, Pavlou M, Monserrat L, Anastasakis A, Rapezzi C, Biagini E, Gimeno JR, Limongelli G, McKenna WJ, Omar RZ, Elliott PM; Hypertrophic Cardiomyopathy Outcomes Investigators
Eur Heart J 2014 Aug 7;35(30):2010-20. Epub 2013 Oct 14 doi: 10.1093/eurheartj/eht439. PMID: 24126876
Bille K, Figueiras D, Schamasch P, Kappenberger L, Brenner JI, Meijboom FJ, Meijboom EJ
Eur J Cardiovasc Prev Rehabil 2006 Dec;13(6):859-75. doi: 10.1097/01.hjr.0000238397.50341.4a. PMID: 17143117

Clinical prediction guides

Liu J, Zhao S, Yu S, Wu G, Wang D, Liu L, Song J, Zhu Y, Kang L, Wang J, Song L
Radiology 2022 Feb;302(2):298-306. Epub 2021 Nov 2 doi: 10.1148/radiol.2021210914. PMID: 34726536
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
Neubauer S, Kolm P, Ho CY, Kwong RY, Desai MY, Dolman SF, Appelbaum E, Desvigne-Nickens P, DiMarco JP, Friedrich MG, Geller N, Harper AR, Jarolim P, Jerosch-Herold M, Kim DY, Maron MS, Schulz-Menger J, Piechnik SK, Thomson K, Zhang C, Watkins H, Weintraub WS, Kramer CM; HCMR Investigators
J Am Coll Cardiol 2019 Nov 12;74(19):2333-2345. doi: 10.1016/j.jacc.2019.08.1057. PMID: 31699273Free PMC Article
Zhang J, Gajjala S, Agrawal P, Tison GH, Hallock LA, Beussink-Nelson L, Lassen MH, Fan E, Aras MA, Jordan C, Fleischmann KE, Melisko M, Qasim A, Shah SJ, Bajcsy R, Deo RC
Circulation 2018 Oct 16;138(16):1623-1635. doi: 10.1161/CIRCULATIONAHA.118.034338. PMID: 30354459Free PMC Article
O'Mahony C, Jichi F, Pavlou M, Monserrat L, Anastasakis A, Rapezzi C, Biagini E, Gimeno JR, Limongelli G, McKenna WJ, Omar RZ, Elliott PM; Hypertrophic Cardiomyopathy Outcomes Investigators
Eur Heart J 2014 Aug 7;35(30):2010-20. Epub 2013 Oct 14 doi: 10.1093/eurheartj/eht439. PMID: 24126876

Recent systematic reviews

Ismayl M, Abbasi MA, Marar R, Geske JB, Gersh BJ, Anavekar NS
Curr Probl Cardiol 2023 Jan;48(1):101429. Epub 2022 Sep 24 doi: 10.1016/j.cpcardiol.2022.101429. PMID: 36167226
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
Mascia G, Crotti L, Groppelli A, Canepa M, Merlo AC, Benenati S, Di Donna P, Della Bona R, Soranna D, Zambon A, Porto I, Olivotto I, Parati G, Brignole M, Cecchi F
Int J Cardiol 2022 Jun 15;357:88-94. Epub 2022 Mar 15 doi: 10.1016/j.ijcard.2022.03.028. PMID: 35304190
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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