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Familial hypertrophic cardiomyopathy 22(CMH22)

MedGen UID:
811547
•Concept ID:
C3714998
•
Disease or Syndrome
Synonyms: Cardiomyopathy, hypertrophic, 22; CMH22
 
OMIM®: 608517; 615248

Professional guidelines

PubMed

Genotype-Phenotype Taxonomy of Hypertrophic Cardiomyopathy.
Curran L, de Marvao A, Inglese P, McGurk KA, Schiratti PR, Clement A, Zheng SL, Li S, Pua CJ, Shah M, Jafari M, Theotokis P, Buchan RJ, Jurgens SJ, Raphael CE, Baksi AJ, Pantazis A, Halliday BP, Pennell DJ, Bai W, Chin CWL, Tadros R, Bezzina CR, Watkins H, Cook SA, Prasad SK, Ware JS, O'Regan DP
Circ Genom Precis Med 2023 Dec;16(6):e004200. Epub 2023 Nov 28 doi: 10.1161/CIRCGEN.123.004200. PMID: 38014537Free PMC Article
Genetic testing impacts the utility of prospective familial screening in hypertrophic cardiomyopathy through identification of a nonfamilial subgroup.
Ko C, Arscott P, Concannon M, Saberi S, Day SM, Yashar BM, Helms AS
Genet Med 2018 Jan;20(1):69-75. Epub 2017 Jun 22 doi: 10.1038/gim.2017.79. PMID: 28640247
Cardiac and skeletal myopathies: can genotype explain phenotype?
Marston SB, Hodgkinson JL
J Muscle Res Cell Motil 2001;22(1):1-4. doi: 10.1023/a:1010355716511. PMID: 11563546

Recent clinical studies

Etiology

Genotype-Phenotype Taxonomy of Hypertrophic Cardiomyopathy.
Curran L, de Marvao A, Inglese P, McGurk KA, Schiratti PR, Clement A, Zheng SL, Li S, Pua CJ, Shah M, Jafari M, Theotokis P, Buchan RJ, Jurgens SJ, Raphael CE, Baksi AJ, Pantazis A, Halliday BP, Pennell DJ, Bai W, Chin CWL, Tadros R, Bezzina CR, Watkins H, Cook SA, Prasad SK, Ware JS, O'Regan DP
Circ Genom Precis Med 2023 Dec;16(6):e004200. Epub 2023 Nov 28 doi: 10.1161/CIRCGEN.123.004200. PMID: 38014537Free PMC Article
Eplontersen for Hereditary Transthyretin Amyloidosis With Polyneuropathy.
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
Advances in pharmacotherapy for cardiac amyloidosis.
Spoladore R, Falasconi G, Marcatti M, Di Maio S, Fiore G, Slavich M, Margonato A, Turco A, Fragasso G
Expert Opin Pharmacother 2021 Mar;22(4):469-481. Epub 2020 Oct 31 doi: 10.1080/14656566.2020.1836159. PMID: 33043721
Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy.
Helms AS, Thompson AD, Glazier AA, Hafeez N, Kabani S, Rodriguez J, Yob JM, Woolcock H, Mazzarotto F, Lakdawala NK, Wittekind SG, Pereira AC, Jacoby DL, Colan SD, Ashley EA, Saberi S, Ware JS, Ingles J, Semsarian C, Michels M, Olivotto I, Ho CY, Day SM
Circ Genom Precis Med 2020 Oct;13(5):396-405. Epub 2020 Aug 25 doi: 10.1161/CIRCGEN.120.002929. PMID: 32841044Free PMC Article
Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients.
Gómez J, Lorca R, Reguero JR, Morís C, Martín M, Tranche S, Alonso B, Iglesias S, Alvarez V, Díaz-Molina B, Avanzas P, Coto E
Circ Cardiovasc Genet 2017 Apr;10(2) doi: 10.1161/CIRCGENETICS.116.001584. PMID: 28356264

Diagnosis

Patients With Hypertrophic Cardiomyopathy and Normal Genetic Investigations Have Few Affected Relatives.
Nielsen SK, Hansen FG, Rasmussen TB, Fischer T, Lassen JF, Madsen T, Møller DS, Klausen IC, Brodersen JB, Jensen MSK, Mogensen J
J Am Coll Cardiol 2023 Oct 31;82(18):1751-1761. doi: 10.1016/j.jacc.2023.08.041. PMID: 37879779
MicroRNA expression profiles in familial hypertrophic cardiomyopathy with myosin-binding protein C3 (MYBPC3) gene mutations.
Lin LR, Hu XQ, Lu LH, Dai JZ, Lin NN, Wang RH, Xie ZX, Chen XM
BMC Cardiovasc Disord 2022 Jun 18;22(1):278. doi: 10.1186/s12872-022-02714-6. PMID: 35717150Free PMC Article
Advances in pharmacotherapy for cardiac amyloidosis.
Spoladore R, Falasconi G, Marcatti M, Di Maio S, Fiore G, Slavich M, Margonato A, Turco A, Fragasso G
Expert Opin Pharmacother 2021 Mar;22(4):469-481. Epub 2020 Oct 31 doi: 10.1080/14656566.2020.1836159. PMID: 33043721
Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy.
Helms AS, Thompson AD, Glazier AA, Hafeez N, Kabani S, Rodriguez J, Yob JM, Woolcock H, Mazzarotto F, Lakdawala NK, Wittekind SG, Pereira AC, Jacoby DL, Colan SD, Ashley EA, Saberi S, Ware JS, Ingles J, Semsarian C, Michels M, Olivotto I, Ho CY, Day SM
Circ Genom Precis Med 2020 Oct;13(5):396-405. Epub 2020 Aug 25 doi: 10.1161/CIRCGEN.120.002929. PMID: 32841044Free PMC Article
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
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

Therapy

Eplontersen for Hereditary Transthyretin Amyloidosis With Polyneuropathy.
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
Deep learning to diagnose cardiac amyloidosis from cardiovascular magnetic resonance.
Martini N, Aimo A, Barison A, Della Latta D, Vergaro G, Aquaro GD, Ripoli A, Emdin M, Chiappino D
J Cardiovasc Magn Reson 2020 Dec 7;22(1):84. doi: 10.1186/s12968-020-00690-4. PMID: 33287829Free PMC Article
Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients.
Gómez J, Lorca R, Reguero JR, Morís C, Martín M, Tranche S, Alonso B, Iglesias S, Alvarez V, Díaz-Molina B, Avanzas P, Coto E
Circ Cardiovasc Genet 2017 Apr;10(2) doi: 10.1161/CIRCGENETICS.116.001584. PMID: 28356264
Long-term rescue of a familial hypertrophic cardiomyopathy caused by a mutation in the thin filament protein, tropomyosin, via modulation of a calcium cycling protein.
Gaffin RD, Peña JR, Alves MS, Dias FA, Chowdhury SA, Heinrich LS, Goldspink PH, Kranias EG, Wieczorek DF, Wolska BM
J Mol Cell Cardiol 2011 Nov;51(5):812-20. Epub 2011 Aug 5 doi: 10.1016/j.yjmcc.2011.07.026. PMID: 21840315Free PMC Article
Hypertrophic cardiomyopathy in Greece: clinical course and outcome.
Kyriakidis M, Triposkiadis F, Anastasakis A, Theopistou A, Tocta R, Barbetseas J, Gialafos J
Chest 1998 Oct;114(4):1091-6. doi: 10.1378/chest.114.4.1091. PMID: 9792582

Prognosis

Patients With Hypertrophic Cardiomyopathy and Normal Genetic Investigations Have Few Affected Relatives.
Nielsen SK, Hansen FG, Rasmussen TB, Fischer T, Lassen JF, Madsen T, Møller DS, Klausen IC, Brodersen JB, Jensen MSK, Mogensen J
J Am Coll Cardiol 2023 Oct 31;82(18):1751-1761. doi: 10.1016/j.jacc.2023.08.041. PMID: 37879779
MicroRNA expression profiles in familial hypertrophic cardiomyopathy with myosin-binding protein C3 (MYBPC3) gene mutations.
Lin LR, Hu XQ, Lu LH, Dai JZ, Lin NN, Wang RH, Xie ZX, Chen XM
BMC Cardiovasc Disord 2022 Jun 18;22(1):278. doi: 10.1186/s12872-022-02714-6. PMID: 35717150Free PMC Article
Advances in pharmacotherapy for cardiac amyloidosis.
Spoladore R, Falasconi G, Marcatti M, Di Maio S, Fiore G, Slavich M, Margonato A, Turco A, Fragasso G
Expert Opin Pharmacother 2021 Mar;22(4):469-481. Epub 2020 Oct 31 doi: 10.1080/14656566.2020.1836159. PMID: 33043721
Atrial fibrillation in patients with inherited cardiomyopathies.
Yeung C, Enriquez A, Suarez-Fuster L, Baranchuk A
Europace 2019 Jan 1;21(1):22-32. doi: 10.1093/europace/euy064. PMID: 29684120
Genetic testing impacts the utility of prospective familial screening in hypertrophic cardiomyopathy through identification of a nonfamilial subgroup.
Ko C, Arscott P, Concannon M, Saberi S, Day SM, Yashar BM, Helms AS
Genet Med 2018 Jan;20(1):69-75. Epub 2017 Jun 22 doi: 10.1038/gim.2017.79. PMID: 28640247

Clinical prediction guides

Clinical to Population Prevalence of Hypertrophic Cardiomyopathy Phenotype: Insights From the National Echo Database Australia.
Playford D, Strange GA, Atherton JJ, Harris S, Chan YK, Stewart S
Heart Lung Circ 2024 Feb;33(2):212-221. Epub 2024 Jan 3 doi: 10.1016/j.hlc.2023.10.021. PMID: 38177016
Eplontersen for Hereditary Transthyretin Amyloidosis With Polyneuropathy.
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
MicroRNA expression profiles in familial hypertrophic cardiomyopathy with myosin-binding protein C3 (MYBPC3) gene mutations.
Lin LR, Hu XQ, Lu LH, Dai JZ, Lin NN, Wang RH, Xie ZX, Chen XM
BMC Cardiovasc Disord 2022 Jun 18;22(1):278. doi: 10.1186/s12872-022-02714-6. PMID: 35717150Free PMC Article
Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy.
Helms AS, Thompson AD, Glazier AA, Hafeez N, Kabani S, Rodriguez J, Yob JM, Woolcock H, Mazzarotto F, Lakdawala NK, Wittekind SG, Pereira AC, Jacoby DL, Colan SD, Ashley EA, Saberi S, Ware JS, Ingles J, Semsarian C, Michels M, Olivotto I, Ho CY, Day SM
Circ Genom Precis Med 2020 Oct;13(5):396-405. Epub 2020 Aug 25 doi: 10.1161/CIRCGEN.120.002929. PMID: 32841044Free PMC Article
Hypertrophic cardiomyopathy in Greece: clinical course and outcome.
Kyriakidis M, Triposkiadis F, Anastasakis A, Theopistou A, Tocta R, Barbetseas J, Gialafos J
Chest 1998 Oct;114(4):1091-6. doi: 10.1378/chest.114.4.1091. PMID: 9792582

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