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Cardiomyopathy, familial hypertrophic, 4, susceptibility to

MedGen UID:
414013
•Concept ID:
C2751427
•
Finding
Synonym: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4, SUSCEPTIBILITY TO
 
Monarch Initiative: MONDO:0800421
OMIM®: 115197; 600958

Professional guidelines

PubMed

Genetic Testing in Inherited Heart Diseases.
Ingles J, Macciocca I, Morales A, Thomson K
Heart Lung Circ 2020 Apr;29(4):505-511. Epub 2019 Nov 29 doi: 10.1016/j.hlc.2019.10.014. PMID: 31813745
Medical management of hypertrophic cardiomyopathy.
Naghi JJ, Siegel RJ
Rev Cardiovasc Med 2010 Fall;11(4):202-17. doi: 10.3909/ricm0546. PMID: 21389910
Genetic counseling and testing for hypertrophic cardiomyopathy: the pediatric perspective.
Demo EM, Skrzynia C, Baxter S
J Cardiovasc Transl Res 2009 Dec;2(4):500-7. Epub 2009 Sep 24 doi: 10.1007/s12265-009-9126-5. PMID: 20560008

Recent clinical studies

Etiology

Genetic Testing in Inherited Heart Diseases.
Ingles J, Macciocca I, Morales A, Thomson K
Heart Lung Circ 2020 Apr;29(4):505-511. Epub 2019 Nov 29 doi: 10.1016/j.hlc.2019.10.014. PMID: 31813745
Yield of Clinical Screening for Hypertrophic Cardiomyopathy in Child First-Degree Relatives.
Norrish G, Jager J, Field E, Quinn E, Fell H, Lord E, Cicerchia MN, Ochoa JP, Cervi E, Elliott PM, Kaski JP
Circulation 2019 Jul 16;140(3):184-192. Epub 2019 Apr 22 doi: 10.1161/CIRCULATIONAHA.118.038846. PMID: 31006259Free PMC Article
Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.
Lopes LR, Syrris P, Guttmann OP, O'Mahony C, Tang HC, Dalageorgou C, Jenkins S, Hubank M, Monserrat L, McKenna WJ, Plagnol V, Elliott PM
Heart 2015 Feb;101(4):294-301. Epub 2014 Oct 28 doi: 10.1136/heartjnl-2014-306387. PMID: 25351510Free PMC Article
Pregnancy, cardiomyopathies, and genetics.
Van Tintelen JP, Pieper PG, Van Spaendonck-Zwarts KY, Van Den Berg MP
Cardiovasc Res 2014 Mar 15;101(4):571-8. Epub 2014 Jan 22 doi: 10.1093/cvr/cvu014. PMID: 24451172
Hypertrophic cardiomyopathy in childhood.
Colan SD
Heart Fail Clin 2010 Oct;6(4):433-44, vii-iii. doi: 10.1016/j.hfc.2010.05.004. PMID: 20869644Free PMC Article

Diagnosis

Genetic Testing in Inherited Heart Diseases.
Ingles J, Macciocca I, Morales A, Thomson K
Heart Lung Circ 2020 Apr;29(4):505-511. Epub 2019 Nov 29 doi: 10.1016/j.hlc.2019.10.014. PMID: 31813745
Yield of Clinical Screening for Hypertrophic Cardiomyopathy in Child First-Degree Relatives.
Norrish G, Jager J, Field E, Quinn E, Fell H, Lord E, Cicerchia MN, Ochoa JP, Cervi E, Elliott PM, Kaski JP
Circulation 2019 Jul 16;140(3):184-192. Epub 2019 Apr 22 doi: 10.1161/CIRCULATIONAHA.118.038846. PMID: 31006259Free PMC Article
Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.
Lopes LR, Syrris P, Guttmann OP, O'Mahony C, Tang HC, Dalageorgou C, Jenkins S, Hubank M, Monserrat L, McKenna WJ, Plagnol V, Elliott PM
Heart 2015 Feb;101(4):294-301. Epub 2014 Oct 28 doi: 10.1136/heartjnl-2014-306387. PMID: 25351510Free PMC Article
Hypertrophic cardiomyopathy in childhood.
Colan SD
Heart Fail Clin 2010 Oct;6(4):433-44, vii-iii. doi: 10.1016/j.hfc.2010.05.004. PMID: 20869644Free PMC Article
Hypertrophic cardiomyopathy at 50.
Yacoub M, Olivotto I, Cecchi F
J Cardiovasc Transl Res 2009 Dec;2(4):339-40. Epub 2009 Dec 4 doi: 10.1007/s12265-009-9157-y. PMID: 20559992

Therapy

Lack of Phenotypic Differences by Cardiovascular Magnetic Resonance Imaging in MYH7 (β-Myosin Heavy Chain)- Versus MYBPC3 (Myosin-Binding Protein C)-Related Hypertrophic Cardiomyopathy.
Weissler-Snir A, Hindieh W, Gruner C, Fourey D, Appelbaum E, Rowin E, Care M, Lesser JR, Haas TS, Udelson JE, Manning WJ, Olivotto I, Tomberli B, Maron BJ, Maron MS, Crean AM, Rakowski H, Chan RH
Circ Cardiovasc Imaging 2017 Feb;10(2) doi: 10.1161/CIRCIMAGING.116.005311. PMID: 28193612
A systematic review and meta-analysis of genotype-phenotype associations in patients with hypertrophic cardiomyopathy caused by sarcomeric protein mutations.
Lopes LR, Rahman MS, Elliott PM
Heart 2013 Dec;99(24):1800-11. Epub 2013 May 14 doi: 10.1136/heartjnl-2013-303939. PMID: 23674365
The ICD for primary prevention in patients with inherited cardiac diseases: indications, use, and outcome: a comparison with secondary prevention.
Olde Nordkamp LR, Wilde AA, Tijssen JG, Knops RE, van Dessel PF, de Groot JR
Circ Arrhythm Electrophysiol 2013 Feb;6(1):91-100. Epub 2012 Dec 29 doi: 10.1161/CIRCEP.112.975268. PMID: 23275262
Medical management of hypertrophic cardiomyopathy.
Naghi JJ, Siegel RJ
Rev Cardiovasc Med 2010 Fall;11(4):202-17. doi: 10.3909/ricm0546. PMID: 21389910
Hypertrophic cardiomyopathy in childhood.
Colan SD
Heart Fail Clin 2010 Oct;6(4):433-44, vii-iii. doi: 10.1016/j.hfc.2010.05.004. PMID: 20869644Free PMC Article

Prognosis

Genetic Association Between Hypoplastic Left Heart Syndrome and Cardiomyopathies.
Theis JL, Hu JJ, Sundsbak RS, Evans JM, Bamlet WR, Qureshi MY, O'Leary PW, Olson TM
Circ Genom Precis Med 2021 Feb;14(1):e003126. Epub 2020 Dec 16 doi: 10.1161/CIRCGEN.120.003126. PMID: 33325730
Yield of Clinical Screening for Hypertrophic Cardiomyopathy in Child First-Degree Relatives.
Norrish G, Jager J, Field E, Quinn E, Fell H, Lord E, Cicerchia MN, Ochoa JP, Cervi E, Elliott PM, Kaski JP
Circulation 2019 Jul 16;140(3):184-192. Epub 2019 Apr 22 doi: 10.1161/CIRCULATIONAHA.118.038846. PMID: 31006259Free PMC Article
Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.
Lopes LR, Syrris P, Guttmann OP, O'Mahony C, Tang HC, Dalageorgou C, Jenkins S, Hubank M, Monserrat L, McKenna WJ, Plagnol V, Elliott PM
Heart 2015 Feb;101(4):294-301. Epub 2014 Oct 28 doi: 10.1136/heartjnl-2014-306387. PMID: 25351510Free PMC Article
Long-term outcome of 4 Korean families with hypertrophic cardiomyopathy caused by 4 different mutations.
Choi JO, Yu CW, Chun Nah J, Rang Park J, Lee BS, Jeong Choi Y, Cho BR, Lee SC, Woo Park S, Kimura A, Euy Park J
Clin Cardiol 2010 Jul;33(7):430-8. doi: 10.1002/clc.20795. PMID: 20641121Free PMC Article
Hypertrophic cardiomyopathy at 50.
Yacoub M, Olivotto I, Cecchi F
J Cardiovasc Transl Res 2009 Dec;2(4):339-40. Epub 2009 Dec 4 doi: 10.1007/s12265-009-9157-y. PMID: 20559992

Clinical prediction guides

Familial risk of dilated and hypertrophic cardiomyopathy: a national family study in Sweden.
Ricci F, Banihashemi B, Pirouzifard M, Sundquist J, Sundquist K, Sutton R, Fedorowski A, Zöller B
ESC Heart Fail 2023 Feb;10(1):121-132. Epub 2022 Sep 28 doi: 10.1002/ehf2.14171. PMID: 36169166Free PMC Article
Genetic Association Between Hypoplastic Left Heart Syndrome and Cardiomyopathies.
Theis JL, Hu JJ, Sundsbak RS, Evans JM, Bamlet WR, Qureshi MY, O'Leary PW, Olson TM
Circ Genom Precis Med 2021 Feb;14(1):e003126. Epub 2020 Dec 16 doi: 10.1161/CIRCGEN.120.003126. PMID: 33325730
Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.
Lopes LR, Syrris P, Guttmann OP, O'Mahony C, Tang HC, Dalageorgou C, Jenkins S, Hubank M, Monserrat L, McKenna WJ, Plagnol V, Elliott PM
Heart 2015 Feb;101(4):294-301. Epub 2014 Oct 28 doi: 10.1136/heartjnl-2014-306387. PMID: 25351510Free PMC Article
Genetic counseling and testing for hypertrophic cardiomyopathy: an adult perspective.
Skrzynia C, Demo EM, Baxter SM
J Cardiovasc Transl Res 2009 Dec;2(4):493-9. Epub 2009 Sep 26 doi: 10.1007/s12265-009-9127-4. PMID: 20560007
A new era in clinical genetic testing for hypertrophic cardiomyopathy.
Wheeler M, Pavlovic A, DeGoma E, Salisbury H, Brown C, Ashley EA
J Cardiovasc Transl Res 2009 Dec;2(4):381-91. Epub 2009 Oct 30 doi: 10.1007/s12265-009-9139-0. PMID: 20559996

Recent systematic reviews

A systematic review and meta-analysis of genotype-phenotype associations in patients with hypertrophic cardiomyopathy caused by sarcomeric protein mutations.
Lopes LR, Rahman MS, Elliott PM
Heart 2013 Dec;99(24):1800-11. Epub 2013 May 14 doi: 10.1136/heartjnl-2013-303939. PMID: 23674365

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