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Hypertrophic cardiomyopathy 17(CMH17)

MedGen UID:
462614
Concept ID:
C3151264
Disease or Syndrome
Synonym: Familial hypertrophic cardiomyopathy 17
 
Gene (location): JPH2 (20q13.12)
 
Monarch Initiative: MONDO:0013474
OMIM®: 613873

Definition

An autosomal dominant subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the JPH2 gene, encoding junctophilin-2. [from NCI]

Clinical features

From HPO
Angina pectoris
MedGen UID:
1929
Concept ID:
C0002962
Sign or Symptom
Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia.
Atrial fibrillation
MedGen UID:
445
Concept ID:
C0004238
Finding
An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute.
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.
Palpitations
MedGen UID:
14579
Concept ID:
C0030252
Finding
A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.
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).
Left ventricular hypertrophy
MedGen UID:
57442
Concept ID:
C0149721
Disease or Syndrome
Enlargement or increased size of the heart left ventricle.
Myocardial fibrosis
MedGen UID:
56239
Concept ID:
C0151654
Pathologic Function
Myocardial fibrosis is characterized by dysregulated collagen turnover (increased synthesis predominates over unchanged or decreased degradation) and excessive diffuse collagen accumulation in the interstitial and perivascular spaces as well as by phenotypically transformed fibroblasts, termed myofibroblasts.
Dyspnea
MedGen UID:
3938
Concept ID:
C0013404
Sign or Symptom
Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Stava TT, Leren TP, Bogsrud MP
Eur J Prev Cardiol 2022 Oct 18;29(13):1789-1799. doi: 10.1093/eurjpc/zwac102. PMID: 35653365
Finocchiaro G, Sheikh N, Biagini E, Papadakis M, Maurizi N, Sinagra G, Pelliccia A, Rapezzi C, Sharma S, Olivotto I
Heart Rhythm 2020 Jan;17(1):142-151. Epub 2019 Aug 10 doi: 10.1016/j.hrthm.2019.07.019. PMID: 31349064
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

Zhao K, Zhu Y, Chen X, Yang S, Yan W, Yang K, Song Y, Cui C, Xu X, Zhu Q, Cui ZX, Yin G, Cheng H, Lu M, Liang D, Shi K, Zhao L, Liu H, Zhang J, Chen L, Prasad SK, Zhao S, Zheng H
JACC Cardiovasc Imaging 2024 Aug;17(8):880-893. Epub 2024 Jul 10 doi: 10.1016/j.jcmg.2024.04.013. PMID: 39001729
Kuusisto J
Heart 2020 Sep;106(17):1291-1292. Epub 2020 Jun 16 doi: 10.1136/heartjnl-2020-317043. PMID: 32546508
Finocchiaro G, Sheikh N, Biagini E, Papadakis M, Maurizi N, Sinagra G, Pelliccia A, Rapezzi C, Sharma S, Olivotto I
Heart Rhythm 2020 Jan;17(1):142-151. Epub 2019 Aug 10 doi: 10.1016/j.hrthm.2019.07.019. PMID: 31349064
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
Maron BJ, Gardin JM, Flack JM, Gidding SS, Kurosaki TT, Bild DE
Circulation 1995 Aug 15;92(4):785-9. doi: 10.1161/01.cir.92.4.785. PMID: 7641357

Diagnosis

Zhao K, Zhu Y, Chen X, Yang S, Yan W, Yang K, Song Y, Cui C, Xu X, Zhu Q, Cui ZX, Yin G, Cheng H, Lu M, Liang D, Shi K, Zhao L, Liu H, Zhang J, Chen L, Prasad SK, Zhao S, Zheng H
JACC Cardiovasc Imaging 2024 Aug;17(8):880-893. Epub 2024 Jul 10 doi: 10.1016/j.jcmg.2024.04.013. PMID: 39001729
Hughes RK, Knott KD, Malcolmson J, Augusto JB, Mohiddin SA, Kellman P, Moon JC, Captur G
J Am Heart Assoc 2020 Mar 3;9(5):e015294. Epub 2020 Feb 28 doi: 10.1161/JAHA.119.015294. PMID: 32106746Free PMC Article
Finocchiaro G, Sheikh N, Biagini E, Papadakis M, Maurizi N, Sinagra G, Pelliccia A, Rapezzi C, Sharma S, Olivotto I
Heart Rhythm 2020 Jan;17(1):142-151. Epub 2019 Aug 10 doi: 10.1016/j.hrthm.2019.07.019. PMID: 31349064
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
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

Therapy

Maron MS, Masri A, Nassif ME, Barriales-Villa R, Arad M, Cardim N, Choudhury L, Claggett B, Coats CJ, Düngen HD, Garcia-Pavia P, Hagège AA, Januzzi JL, Lee MMY, Lewis GD, Ma CS, Michels M, Olivotto I, Oreziak A, Owens AT, Spertus JA, Solomon SD, Tfelt-Hansen J, van Sinttruije M, Veselka J, Watkins H, Jacoby DL, Heitner SB, Kupfer S, Malik FI, Meng L, Wohltman A, Abraham TP; SEQUOIA-HCM Investigators
N Engl J Med 2024 May 30;390(20):1849-1861. Epub 2024 May 13 doi: 10.1056/NEJMoa2401424. PMID: 38739079
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
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
Tadros R, Francis C, Xu X, Vermeer AMC, Harper AR, Huurman R, Kelu Bisabu K, Walsh R, Hoorntje ET, Te Rijdt WP, Buchan RJ, van Velzen HG, van Slegtenhorst MA, Vermeulen JM, Offerhaus JA, Bai W, de Marvao A, Lahrouchi N, Beekman L, Karper JC, Veldink JH, Kayvanpour E, Pantazis A, Baksi AJ, Whiffin N, Mazzarotto F, Sloane G, Suzuki H, Schneider-Luftman D, Elliott P, Richard P, Ader F, Villard E, Lichtner P, Meitinger T, Tanck MWT, van Tintelen JP, Thain A, McCarty D, Hegele RA, Roberts JD, Amyot J, Dubé MP, Cadrin-Tourigny J, Giraldeau G, L'Allier PL, Garceau P, Tardif JC, Boekholdt SM, Lumbers RT, Asselbergs FW, Barton PJR, Cook SA, Prasad SK, O'Regan DP, van der Velden J, Verweij KJH, Talajic M, Lettre G, Pinto YM, Meder B, Charron P, de Boer RA, Christiaans I, Michels M, Wilde AAM, Watkins H, Matthews PM, Ware JS, Bezzina CR
Nat Genet 2021 Feb;53(2):128-134. Epub 2021 Jan 25 doi: 10.1038/s41588-020-00762-2. PMID: 33495596Free 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

Prognosis

Zhao K, Zhu Y, Chen X, Yang S, Yan W, Yang K, Song Y, Cui C, Xu X, Zhu Q, Cui ZX, Yin G, Cheng H, Lu M, Liang D, Shi K, Zhao L, Liu H, Zhang J, Chen L, Prasad SK, Zhao S, Zheng H
JACC Cardiovasc Imaging 2024 Aug;17(8):880-893. Epub 2024 Jul 10 doi: 10.1016/j.jcmg.2024.04.013. PMID: 39001729
Francia P, Ziacchi M, Adduci C, Ammendola E, Pieragnoli P, De Filippo P, Rapacciuolo A, Rella V, Migliore F, Viani S, Musumeci MB, Biagini E, Lovecchio M, Baldini R, Falasconi G, Autore C, Biffi M, Cecchi F
Europace 2023 Aug 2;25(9) doi: 10.1093/europace/euad270. PMID: 37724686Free PMC Article
Choi YJ, Kim HK, Hwang IC, Park CS, Rhee TM, Lee HJ, Park JB, Yoon YE, Lee SP, Cho GY, Kim YJ
Heart 2023 Apr 25;109(10):771-778. doi: 10.1136/heartjnl-2022-321853. PMID: 36581445
Kuusisto J
Heart 2020 Sep;106(17):1291-1292. Epub 2020 Jun 16 doi: 10.1136/heartjnl-2020-317043. PMID: 32546508
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

Clinical prediction guides

Maron MS, Masri A, Nassif ME, Barriales-Villa R, Arad M, Cardim N, Choudhury L, Claggett B, Coats CJ, Düngen HD, Garcia-Pavia P, Hagège AA, Januzzi JL, Lee MMY, Lewis GD, Ma CS, Michels M, Olivotto I, Oreziak A, Owens AT, Spertus JA, Solomon SD, Tfelt-Hansen J, van Sinttruije M, Veselka J, Watkins H, Jacoby DL, Heitner SB, Kupfer S, Malik FI, Meng L, Wohltman A, Abraham TP; SEQUOIA-HCM Investigators
N Engl J Med 2024 May 30;390(20):1849-1861. Epub 2024 May 13 doi: 10.1056/NEJMoa2401424. PMID: 38739079
Hughes RK, Shiwani H, Rosmini S, Augusto JB, Burke L, Jiang Y, Pierce I, Joy G, Castelletti S, Orini M, Kellman P, Xue H, Lopes LR, Mohiddin S, Treibel T, Manisty C, Captur G, Davies R, Moon JC
JACC Cardiovasc Imaging 2024 May;17(5):501-512. Epub 2023 Oct 11 doi: 10.1016/j.jcmg.2023.07.012. PMID: 37831014
Toepfer CN, Garfinkel AC, Venturini G, Wakimoto H, Repetti G, Alamo L, Sharma A, Agarwal R, Ewoldt JK, Cloonan P, Letendre J, Lun M, Olivotto I, Colan S, Ashley E, Jacoby D, Michels M, Redwood CS, Watkins HC, Day SM, Staples JF, Padrón R, Chopra A, Ho CY, Chen CS, Pereira AC, Seidman JG, Seidman CE
Circulation 2020 Mar 10;141(10):828-842. Epub 2020 Jan 27 doi: 10.1161/CIRCULATIONAHA.119.042339. PMID: 31983222Free 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
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

Recent systematic reviews

Bruce C, Ubhi N, McKeegan P, Sanders K
Am J Cardiol 2023 Feb 1;188:110-119. Epub 2022 Dec 10 doi: 10.1016/j.amjcard.2022.10.059. PMID: 36512852
Seco M, Lau JC, Medi C, Bannon PG
Asian Cardiovasc Thorac Ann 2022 Jan;30(1):98-107. Epub 2021 Sep 6 doi: 10.1177/02184923211042136. PMID: 34486381
Alphonse P, Virk S, Collins J, Campbell T, Thomas SP, Semsarian C, Kumar S
Clin Res Cardiol 2021 Apr;110(4):544-554. Epub 2020 Sep 3 doi: 10.1007/s00392-020-01730-w. PMID: 32880676
Tselios K, Deeb M, Gladman DD, Harvey P, Urowitz MB
Lupus 2018 Apr;27(4):591-599. Epub 2017 Oct 9 doi: 10.1177/0961203317734922. PMID: 28992800
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

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