|
1
|
Maron BJ, Ommen SR, Semsarian C, Spirito
P, Olivotto I and Maron MS: Hypertrophic cardiomyopathy: Present
and future, with translation into contemporary cardiovascular
medicine. J Am Coll Cardiol. 64:83–99. 2014.PubMed/NCBI View Article : Google Scholar
|
|
2
|
Ho CY, Day SM, Ashley EA, Michels M,
Pereira AC, Jacoby D, Cirino AL, Fox JC, Lakdawala NK, Ware JS, et
al: Genotype and lifetime burden of disease in hypertrophic
cardiomyopathy: Insights from the sarcomeric human cardiomyopathy
registry (SHaRe). Circulation. 138:1387–1398. 2018.PubMed/NCBI View Article : Google Scholar
|
|
3
|
Spirito P and Autore C: Management of
hypertrophic cardiomyopathy. BMJ. 332:1251–1255. 2006.PubMed/NCBI View Article : Google Scholar
|
|
4
|
Maron BJ: Clinical course and management
of hypertrophic cardiomyopathy. N Engl J Med. 379:655–668.
2018.PubMed/NCBI View Article : Google Scholar
|
|
5
|
Coppini R, Santini L, Olivotto I, Ackerman
MJ and Cerbai E: Abnormalities in sodium current and calcium
homoeostasis as drivers of arrhythmogenesis in hypertrophic
cardiomyopathy. Cardiovasc Res. 116:1585–1599. 2020.PubMed/NCBI View Article : Google Scholar
|
|
6
|
Jääskeläinen P, Vangipurapu J, Raivo J,
Kuulasmaa T, Heliö T, Aalto-Setälä K, Kaartinen M, Ilveskoski E,
Vanninen S, Hämäläinen L, et al: Genetic basis and outcome in a
nationwide study of Finnish patients with hypertrophic
cardiomyopathy. ESC Heart Fail. 6:436–445. 2019.PubMed/NCBI View Article : Google Scholar
|
|
7
|
Seeger T, Shrestha R, Lam CK, Chen C,
McKeithan WL, Lau E, Wnorowski A, McMullen G, Greenhaw M, Lee J, et
al: A premature termination codon mutation in MYBPC3 causes
hypertrophic cardiomyopathy via chronic activation of
nonsense-mediated decay. Circulation. 139:799–811. 2019.PubMed/NCBI View Article : Google Scholar
|
|
8
|
Lopes LR, Zekavati A, Syrris P, Hubank M,
Giambartolomei C, Dalageorgou C, Jenkins S and McKenna W: Uk10k
Consortium. Plagnol V and Elliott PM: Genetic complexity in
hypertrophic cardiomyopathy revealed by high-throughput sequencing.
J Med Genet. 50:228–239. 2013.PubMed/NCBI View Article : Google Scholar
|
|
9
|
Maron BJ, Maron MS and Semsarian C:
Genetics of hypertrophic cardiomyopathy after 20 years: Clinical
perspectives. J Am Coll Cardiol. 60:705–715. 2012.PubMed/NCBI View Article : Google Scholar
|
|
10
|
Richard P, Charron P, Carrier L, Ledeuil
C, Cheav T, Pichereau C, Benaiche A, Isnard R, Dubourg O, Burban M,
et al: Hypertrophic cardiomyopathy: distribution of disease genes,
spectrum of mutations, and implications for a molecular diagnosis
strategy. Circulation. 107:2227–2232. 2003.PubMed/NCBI View Article : Google Scholar
|
|
11
|
Toepfer CN, Wakimoto H, Garfinkel AC,
McDonough B, Liao D, Jiang J, Tai AC, Gorham JM, Lunde IG, Lun M,
et al: Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate
myosin. Sci Transl Med. 11(eaat1199)2019.PubMed/NCBI View Article : Google Scholar
|
|
12
|
Ochoa JP, Sabater-Molina M, Garcia-Pinilla
JM, Mogensen J, Restrepo-Córdoba A, Palomino-Doza J, Villacorta E,
Martinez-Moreno M, Ramos-Maqueda J, Zorio E, et al: Formin homology
2 domain containing 3 (FHOD3) is a genetic basis for hypertrophic
cardiomyopathy. J Am Coll Cardiol. 72:2457–2467. 2018.PubMed/NCBI View Article : Google Scholar
|
|
13
|
Kaski JP, Syrris P, Esteban MT, Jenkins S,
Pantazis A, Deanfield JE, McKenna WJ and Elliott PM: Prevalence of
sarcomere protein gene mutations in preadolescent children with
hypertrophic cardiomyopathy. Circ Cardiovasc Genet. 2:436–441.
2009.PubMed/NCBI View Article : Google Scholar
|
|
14
|
Frey N, Luedde M and Katus HA: Mechanisms
of disease: Hypertrophic cardiomyopathy. Nat Rev Cardiol. 9:91–100.
2011.PubMed/NCBI View Article : Google Scholar
|
|
15
|
Sequeira V, Bertero E and Maack C:
Energetic drain driving hypertrophic cardiomyopathy. FEBS Lett.
593:1616–1626. 2019.PubMed/NCBI View Article : Google Scholar
|
|
16
|
Authors/Task Force members. Elliott PM,
Anastasakis A, Borger MA, Borggrefe M, Cecchi F, Charron P, Hagege
AA, Lafont A, Limongelli G, et al: 2014 ESC guidelines on diagnosis
and management of hypertrophic cardiomyopathy: The task force for
the diagnosis and management of hypertrophic cardiomyopathy of the
European society of cardiology (ESC). Eur Heart J. 35:2733–2779.
2014.PubMed/NCBI View Article : Google Scholar
|
|
17
|
Guo D, Shi Y, Jian W, Fu Y, Yang H, Guo M,
Yong W, Chen G, Deng H, Qin Y, et al: A novel nonsense mutation in
the L1CAM gene responsible for X-linked congenital hydrocephalus. J
Gene Med. 22(e3180)2020.PubMed/NCBI View
Article : Google Scholar
|
|
18
|
Li H and Durbin R: Fast and accurate
long-read alignment with burrows-wheeler transform. Bioinformatics.
26:589–595. 2010.PubMed/NCBI View Article : Google Scholar
|
|
19
|
McKenna A, Hanna M, Banks E, Sivachenko A,
Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly
M and DePristo MA: The genome analysis toolkit: A MapReduce
framework for analyzing next-generation DNA sequencing data. Genome
Res. 20:1297–1303. 2010.PubMed/NCBI View Article : Google Scholar
|
|
20
|
Lek M, Karczewski KJ, Minikel EV, Samocha
KE, Banks E, Fennell T, O'Donnell-Luria AH, Ware JS, Hill AJ,
Cummings BB, et al: Analysis of protein-coding genetic variation in
60,706 humans. Nature. 536:285–291. 2016.PubMed/NCBI View Article : Google Scholar
|
|
21
|
den Dunnen JT, Dalgleish R, Maglott DR,
Hart RK, Greenblatt MS, McGowan-Jordan J, Roux AF, Smith T,
Antonarakis SE and Taschner PE: HGVS recommendations for the
description of sequence variants: 2016 update. Hum Mutat.
37:564–569. 2016.PubMed/NCBI View Article : Google Scholar
|
|
22
|
Richards S, Aziz N, Bale S, Bick D, Das S,
Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, et al:
Standards and guidelines for the interpretation of sequence
variants: A joint consensus recommendation of the American college
of medical genetics and genomics and the association for molecular
pathology. Genet Med. 17:405–424. 2015.PubMed/NCBI View Article : Google Scholar
|
|
23
|
Ren MB, Chai XR, Li L, Wang X and Yin C:
Potential digenic inheritance of familial hypertrophic
cardiomyopathy identified by whole-exome sequencing. Mol Genet
Genomic Med. 8(e1150)2020.PubMed/NCBI View Article : Google Scholar
|
|
24
|
Das K J, Ingles J, Bagnall RD and
Semsarian C: Determining pathogenicity of genetic variants in
hypertrophic cardiomyopathy: Importance of periodic reassessment.
Genet Med. 16:286–293. 2014.PubMed/NCBI View Article : Google Scholar
|
|
25
|
Green RC, Berg JS, Grody WW, Kalia SS,
Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond
KE, et al: ACMG recommendations for reporting of incidental
findings in clinical exome and genome sequencing. Genet Med.
15:565–574. 2013.PubMed/NCBI View Article : Google Scholar
|
|
26
|
Liew AC, Vassiliou VS, Cooper R and
Raphael CE: Hypertrophic cardiomyopathy-past, present and future. J
Clin Med. 6(118)2017.PubMed/NCBI View Article : Google Scholar
|
|
27
|
Ingles J, Goldstein J, Thaxton C, Caleshu
C, Corty EW, Crowley SB, Dougherty K, Harrison SM, McGlaughon J,
Milko LV, et al: Evaluating the clinical validity of hypertrophic
cardiomyopathy genes. Circ Genom Precis Med.
12(e002460)2019.PubMed/NCBI View Article : Google Scholar
|
|
28
|
Valdés-Mas R, Gutiérrez-Fernández A, Gómez
J, Coto E, Astudillo A, Puente DA, Reguero JR, Álvarez V, Morís C,
León D, et al: Mutations in filamin C cause a new form of familial
hypertrophic cardiomyopathy. Nat Commun. 5(5326)2014.PubMed/NCBI View Article : Google Scholar
|
|
29
|
Digilio MC, Pacileo G, Sarkozy A,
Limongelli G, Conti E, Cerrato F, Marino B, Pizzuti A, Calabrò R
and Dallapiccola B: Familial aggregation of genetically
heterogeneous hypertrophic cardiomyopathy: A boy with LEOPARD
syndrome due to PTPN11 mutation and his nonsyndromic father lacking
PTPN11 mutations. Birth Defects Res A Clin Mol Teratol. 70:95–98.
2004.PubMed/NCBI View Article : Google Scholar
|
|
30
|
Perryman MB, Yu QT, Marian AJ, Mares A Jr,
Czernuszewicz G, Ifegwu J, Hill R and Roberts R: Expression of a
missense mutation in the messenger RNA for beta-myosin heavy chain
in myocardial tissue in hypertrophic cardiomyopathy. J Clin Invest.
90:271–277. 1992.PubMed/NCBI View Article : Google Scholar
|
|
31
|
Lafreniere-Roula M, Bolkier Y, Zahavich L,
Mathew J, George K, Wilson J, Stephenson EA, Benson LN, Manlhiot C
and Mital S: Family screening for hypertrophic cardiomyopathy: Is
it time to change practice guidelines? Eur Heart J. 40:3672–3681.
2019.PubMed/NCBI View Article : Google Scholar
|
|
32
|
Lopes LR, Brito D, Belo A and Cardim N:
Portuguese Registry of Hypertrophic Cardiomyopathy. Genetic
characterization and genotype-phenotype associations in a large
cohort of patients with hypertrophic cardiomyopathy-an ancillary
study of the Portuguese registry of hypertrophic cardiomyopathy.
Int J Cardiol. 278:173–179. 2019.PubMed/NCBI View Article : Google Scholar
|
|
33
|
Millat G, Bouvagnet P, Chevalier P,
Dauphin C, Jouk PS, Da Costa A, Prieur F, Bresson JL, Faivre L,
Eicher JC, et al: Prevalence and spectrum of mutations in a cohort
of 192 unrelated patients with hypertrophic cardiomyopathy. Eur J
Med Genet. 53:261–267. 2010.PubMed/NCBI View Article : Google Scholar
|
|
34
|
Mohiddin SA, Begley DA, McLam E, Cardoso
JP, Winkler JB, Sellers JR and Fananapazir L: Utility of genetic
screening in hypertrophic cardiomyopathy: Prevalence and
significance of novel and double (homozygous and heterozygous)
beta-myosin mutations. Genet Test. 7:21–27. 2003.PubMed/NCBI View Article : Google Scholar
|
|
35
|
Jaffré F, Miller CL, Schänzer A, Evans T,
Roberts AE, Hahn A and Kontaridis MI: Inducible pluripotent stem
cell-derived cardiomyocytes reveal aberrant extracellular regulated
kinase 5 and mitogen-activated protein kinase kinase 1/2 signaling
concomitantly promote hypertrophic cardiomyopathy in
RAF1-associated noonan syndrome. Circulation. 140:207–224.
2019.PubMed/NCBI View Article : Google Scholar
|
