|
1
|
Roger VL, Go AS, Lloyd-Jones DM, Benjamin
EJ, Berry JD, Borden WB, Bravata DM, Dai S, Ford ES, Fox CS,
Fullerton HJ, Gillespie C, Hailpern SM, Heit JA, Howard VJ, Kissela
BM, Kittner SJ, Lackland DT, Lichtman JH, Lisabeth LD, Makuc DM,
Marcus GM, Marelli A, Matchar DB, Moy CS, Mozaffarian D, Mussolino
ME, Nichol G, Paynter NP, Soliman EZ, Sorlie PD, Sotoodehnia N,
Turan TN, Virani SS, Wong ND, Woo D and Turner MB; American Heart
Association Statistics Committee and Stroke Statistics
Subcommittee. Heart disease and stroke statistics-2012 update: a
report from the American Heart Association. Circulation.
125:e2–e220. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
2
|
Bang JS, Jo S, Kim GB, Kwon BS, Bae EJ,
Noh CI and Choi JY: The mental health and quality of life of adult
patients with congenital heart disease. Int J Cardiol. 170:49–53.
2013. View Article : Google Scholar : PubMed/NCBI
|
|
3
|
Idorn L, Jensen AS, Juul K, Overgaard D,
Nielsen NP, Sørensen K, Reimers JI and Søndergaard L: Quality of
life and cognitive function in Fontan patients, a population-based
study. Int J Cardiol. 168:3230–3235. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
4
|
Kröönström LA, Johansson L, Zetterström
AK, Dellborg M, Eriksson P and Cider A: Muscle function in adults
with congenital heart disease. Int J Cardiol. 170:358–363.
2014.
|
|
5
|
Lu JC, Cotts TB and Dorfman AL: Diastolic
function and patient-reported quality of life for adolescents and
adults with repaired tetralogy of Fallot: a tissue Doppler study.
Pediatr Cardiol. 33:618–624. 2012. View Article : Google Scholar
|
|
6
|
Broberg CS, Van Woerkom RC, Swallow E,
Dimopoulos K, Diller GP, Allada G and Gatzoulis MA: Lung function
and gas exchange in Eisenmenger syndrome and their impact on
exercise capacity and survival. Int J Cardiol. 171:73–77. 2014.
View Article : Google Scholar : PubMed/NCBI
|
|
7
|
Donofrio MT, Duplessis AJ and
Limperopoulos C: Impact of congenital heart disease on fetal brain
development and injury. Curr Opin Pediatr. 23:502–511. 2011.
View Article : Google Scholar : PubMed/NCBI
|
|
8
|
Rushani D, Kaufman JS, Ionescu-Ittu R,
Mackie AS, Pilote L, Therrien J and Marelli AJ: Infective
endocarditis in children with congenital heart disease: cumulative
incidence and predictors. Circulation. 128:1412–1419. 2013.
View Article : Google Scholar : PubMed/NCBI
|
|
9
|
Passarella G, Trifirò G, Gasparetto M,
Moreolo GS and Milanesi O: Disorders in glucidic metabolism and
congenital heart diseases: detection and prevention. Pediatr
Cardiol. 34:931–937. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
10
|
Martínez-Quintana E, Rodríguez-González F
and Nieto-Lago V: Subclinical hypothyroidism in grown-up congenital
heart disease patients. Pediatr Cardiol. 34:912–917.
2013.PubMed/NCBI
|
|
11
|
Zomer AC, Vaartjes I, van der Velde ET, de
Jong HM, Konings TC, Wagenaar LJ, Heesen WF, Eerens F, Baur LH,
Grobbee DE and Mulder BJ: Heart failure admissions in adults with
congenital heart disease; risk factors and prognosis. Int J
Cardiol. 168:2487–2493. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
12
|
Ueda A, Adachi I, McCarthy KP, Li W, Ho SY
and Uemura H: Substrates of atrial arrhythmias: histological
insights from patients with congenital heart disease. Int J
Cardiol. 168:2481–2486. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
13
|
Perry JC: Sudden cardiac death and
malignant arrhythmias: the scope of the problem in adult congenital
heart patients. Pediatr Cardiol. 33:484–490. 2012. View Article : Google Scholar
|
|
14
|
Olson EN: Gene regulatory networks in the
evolution and development of the heart. Science. 313:1922–1927.
2006. View Article : Google Scholar : PubMed/NCBI
|
|
15
|
Lee LJ and Lupo PJ: Maternal smoking
during pregnancy and the risk of congenital heart defects in
offspring: a systematic review and metaanalysis. Pediatr Cardiol.
34:398–407. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
16
|
Ackerman C, Locke AE, Feingold E, Reshey
B, Espana K, Thusberg J, Mooney S, Bean LJ, Dooley KJ, Cua CL,
Reeves RH, Sherman SL and Maslen CL: An excess of deleterious
variants in VEGF-A pathway genes in Down-syndrome-associated
atrioventricular septal defects. Am J Hum Genet. 91:646–659. 2012.
View Article : Google Scholar
|
|
17
|
Tan HL, Glen E, Töpf A, Hall D, O’Sullivan
JJ, Sneddon L, Wren C, Avery P, Lewis RJ, ten Dijke P, Arthur HM,
Goodship JA and Keavney BD: Nonsynonymous variants in the SMAD6
gene predispose to congenital cardiovascular malformation. Hum
Mutat. 33:720–727. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
18
|
Soemedi R, Wilson IJ, Bentham J, Darlay R,
Töpf A, Zelenika D, Cosgrove C, Setchfield K, Thornborough C,
Granados-Riveron J, Blue GM, Breckpot J, Hellens S, Zwolinkski S,
Glen E, Mamasoula C, Rahman TJ, Hall D, Rauch A, Devriendt K,
Gewillig M, O’Sullivan J, Winlaw DS, Bu’Lock F, Brook JD,
Bhattacharya S, Lathrop M, Santibanez-Koref M, Cordell HJ, Goodship
JA and Keavney BD: Contribution of global rare copy-number variants
to the risk of sporadic congenital heart disease. Am J Hum Genet.
91:489–501. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
19
|
Sanchez-Castro M, Gordon CT, Petit F, Nord
AS, Callier P, Andrieux J, Guérin P, Pichon O, David A, Abadie V,
Bonnet D, Visel A, Pennacchio LA, Amiel J, Lyonnet S and Le Caignec
C: Congenital heart defects in patients with deletions upstream of
SOX9. Hum Mutat. 34:1628–1631. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
20
|
Wu M, Li Y, He X, Shao X, Yang F, Zhao M,
Wu C, Zhang C and Zhou L: Mutational and functional analysis of the
BVES gene coding region in Chinese patients with non-syndromic
tetralogy of Fallot. Int J Mol Med. 31:899–903. 2013.PubMed/NCBI
|
|
21
|
Aoki Y, Niihori T, Banjo T, Okamoto N,
Mizuno S, Kurosawa K, Ogata T, Takada F, Yano M, Ando T, Hoshika T,
Barnett C, Ohashi H, Kawame H, Hasegawa T, Okutani T, Nagashima T,
Hasegawa S, Funayama R, Nagashima T, Nakayama K, Inoue S, Watanabe
Y, Ogura T and Matsubara Y: Gain-of-function mutations in RIT1
cause Noonan syndrome, a RAS/MAPK pathway syndrome. Am J Hum Genet.
93:173–180. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
22
|
Chang SW, Mislankar M, Misra C, Huang N,
Dajusta DG, Harrison SM, McBride KL, Baker LA and Garg V: Genetic
abnormalities in FOXP1 are associated with congenital heart
defects. Hum Mutat. 34:1226–1230. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
23
|
Schott JJ, Benson DW, Basson CT, Pease W,
Silberbach GM, Moak JP, Maron BJ, Seidman CE and Seidman JG:
Congenital heart disease caused by mutations in the transcription
factor NKX2-5. Science. 281:108–111. 1998. View Article : Google Scholar : PubMed/NCBI
|
|
24
|
Wang J, Xin YF, Liu XY, Liu ZM, Wang XZ
and Yang YQ: A novel NKX2-5 mutation in familial ventricular septal
defect. Int J Mol Med. 27:369–375. 2011.PubMed/NCBI
|
|
25
|
Xie WH, Chang C, Xu YJ, Li RG, Qu XK, Fang
WY, Liu X and Yang YQ: Prevalence and spectrum of Nkx2.5 mutations
associated with idiopathic atrial fibrillation. Clinics (Sao
Paulo). 68:777–784. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
26
|
Huang RT, Xue S, Xu YJ, Zhou M and Yang
YQ: A novel NKX2.5 loss-of-function mutation responsible for
familial atrial fibrillation. Int J Mol Med. 31:1119–1126.
2013.PubMed/NCBI
|
|
27
|
Garg V, Kathiriya IS, Barnes R,
Schluterman MK, King IN, Butler CA, Rothrock CR, Eapen RS,
Hirayama-Yamada K, Joo K, Matsuoka R, Cohen JC and Srivastava D:
GATA4 mutations cause human congenital heart defects and reveal an
interaction with TBX5. Nature. 424:443–447. 2003. View Article : Google Scholar : PubMed/NCBI
|
|
28
|
Wang J, Fang M, Liu XY, Xin YF, Liu ZM,
Chen XZ, Wang XZ, Fang WY, Liu X and Yang YQ: A novel GATA4
mutation responsible for congenital ventricular septal defects. Int
J Mol Med. 28:557–564. 2011.PubMed/NCBI
|
|
29
|
Liu XY, Wang J, Zheng JH, Bai K, Liu ZM,
Wang XZ, Liu X, Fang WY and Yang YQ: Involvement of a novel GATA4
mutation in atrial septal defects. Int J Mol Med. 28:17–23.
2011.PubMed/NCBI
|
|
30
|
Yang YQ, Gharibeh L, Li RG, Xin YF, Wang
J, Liu ZM, Qiu XB, Xu YJ, Xu L, Qu XK, Liu X, Fang WY, Huang RT,
Xue S and Nemer G: GATA4 loss-of-function mutations underlie
familial tetralogy of fallot. Hum Mutat. 34:1662–1671. 2013.
View Article : Google Scholar : PubMed/NCBI
|
|
31
|
Yang YQ, Wang J, Wang XH, Wang Q, Tan HW,
Zhang M, Shen FF, Jiang JQ, Fang WY and Liu X: Mutational spectrum
of the GATA5 gene associated with familial atrial fibrillation. Int
J Cardiol. 157:305–307. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
32
|
Jiang JQ, Li RG, Wang J, Liu XY, Xu YJ,
Fang WY, Chen XZ, Zhang W, Wang XZ and Yang YQ: Prevalence and
spectrum of GATA5 mutations associated with congenital heart
disease. Int J Cardiol. 165:570–573. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
33
|
Wei D, Bao H, Liu XY, Zhou N, Wang Q, Li
RG, Xu YJ and Yang YQ: GATA5 loss-of-function mutations underlie
tetralogy of fallot. Int J Med Sci. 10:34–42. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
34
|
Wang XH, Huang CX, Wang Q, Li RG, Xu YJ,
Liu X, Fang WY and Yang YQ: A novel GATA5 loss-of-function mutation
underlies lone atrial fibrillation. Int J Mol Med. 31:43–50.
2013.PubMed/NCBI
|
|
35
|
Zheng GF, Wei D, Zhao H, Zhou N, Yang YQ
and Liu XY: A novel GATA6 mutation associated with congenital
ventricular septal defect. Int J Mol Med. 29:1065–1071.
2012.PubMed/NCBI
|
|
36
|
Wang J, Luo XJ, Xin YF, Liu Y, Liu ZM,
Wang Q, Li RG, Fang WY, Wang XZ and Yang YQ: Novel GATA6 mutations
associated with congenital ventricular septal defect or tetralogy
of fallot. DNA Cell Biol. 31:1610–1617. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
37
|
Yang YQ, Wang XH, Tan HW, Jiang WF, Fang
WY and Liu X: Prevalence and spectrum of GATA6 mutations associated
with familial atrial fibrillation. Int J Cardiol. 155:494–496.
2012. View Article : Google Scholar : PubMed/NCBI
|
|
38
|
Li J, Liu WD, Yang ZL and Yang YQ: Novel
GATA6 loss-of-function mutation responsible for familial atrial
fibrillation. Int J Mol Med. 30:783–790. 2012.PubMed/NCBI
|
|
39
|
Huang RT, Xue S, Xu YJ and Yang YQ:
Somatic mutations in the GATA6 gene underlie sporadic tetralogy of
Fallot. Int J Mol Med. 31:51–58. 2013.PubMed/NCBI
|
|
40
|
Bruneau BG: The developmental genetics of
congenital heart disease. Nature. 451:943–948. 2008. View Article : Google Scholar : PubMed/NCBI
|
|
41
|
McCulley DJ and Black BL: Transcription
factor pathways and congenital heart disease. Curr Top Dev Biol.
100:253–277. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
42
|
Liu C, Liu W, Palie J, Lu MF, Brown NA and
Martin JF: Pitx2c patterns anterior myocardium and aortic arch
vessels and is required for local cell movement into
atrioventricular cushions. Development. 129:5081–5091.
2002.PubMed/NCBI
|
|
43
|
Dagle JM, Sabel JL, Littig JL, Sutherland
LB, Kolker SJ and Weeks DL: Pitx2c attenuation results in cardiac
defects and abnormalities of intestinal orientation in developing
Xenopus laevis. Dev Biol. 262:268–281. 2003. View Article : Google Scholar : PubMed/NCBI
|
|
44
|
Bamforth SD, Bragança J, Farthing CR,
Schneider JE, Broadbent C, Michell AC, Clarke K, Neubauer S, Norris
D, Brown NA, Anderson RH and Bhattacharya S: Cited2 controls
left-right patterning and heart development through a Nodal-Pitx2c
pathway. Nat Genet. 36:1189–1196. 2004. View Article : Google Scholar : PubMed/NCBI
|
|
45
|
Li Q, Pan H, Guan L, Su D and Ma X: CITED2
mutation links congenital heart defects to dysregulation of the
cardiac gene VEGF and PITX2C expression. Biochem Biophys Res
Commun. 423:895–899. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
46
|
Mommersteeg MT, Brown NA, Prall OW, de
Gier-de Vries C, Harvey RP, Moorman AF and Christoffels VM: Pitx2c
and Nkx2-5 are required for the formation and identity of the
pulmonary myocardium. Circ Res. 101:902–909. 2007. View Article : Google Scholar : PubMed/NCBI
|
|
47
|
Galli D, Domínguez JN, Zaffran S, Munk A,
Brown NA and Buckingham ME: Atrial myocardium derives from the
posterior region of the second heart field, which acquires
left-right identity as Pitx2c is expressed. Development.
135:1157–1167. 2008. View Article : Google Scholar
|
|
48
|
Lozano-Velasco E, Chinchilla A,
Martínez-Fernández S, Hernández-Torres F, Navarro F, Lyons GE,
Franco D and Aránega AE: Pitx2c modulates cardiac-specific
transcription factors networks in differentiating cardiomyocytes
from murine embryonic stem cells. Cells Tissues Organs.
194:349–362. 2011. View Article : Google Scholar
|
|
49
|
Liu C, Liu W, Lu MF, Brown NA and Martin
JF: Regulation of left-right asymmetry by thresholds of Pitx2c
activity. Development. 128:2039–2048. 2001.PubMed/NCBI
|
|
50
|
Clauss S and Kääb S: Is Pitx2 growing up?
Circ Cardiovasc Genet. 4:105–107. 2011. View Article : Google Scholar : PubMed/NCBI
|
|
51
|
Yuan F, Zhao L, Wang J, Zhang W, Li X, Qiu
XB, Li RG, Xu YJ, Xu L, Qu XK, Fang WY and Yang YQ: PITX2c
loss-of-function mutations responsible for congenital atrial septal
defects. Int J Med Sci. 10:1422–1429. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
52
|
Wang J, Xin YF, Xu WJ, Liu ZM, Qiu XB, Qu
XK, Xu L, Li X and Yang YQ: Prevalence and spectrum of PITX2c
mutations associated with congenital heart disease. DNA Cell Biol.
32:708–716. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
53
|
Zhou YM, Zheng PX, Yang YQ, Ge ZM and Kang
WQ: A novel PITX2c loss-of-function mutation underlies lone atrial
fibrillation. Int J Mol Med. 32:827–834. 2013.PubMed/NCBI
|
|
54
|
Yang YQ, Xu YJ, Li RG, Qu XK, Fang WY and
Liu X: Prevalence and spectrum of PITX2c mutations associated with
familial atrial fibrillation. Int J Cardiol. 168:2873–2876. 2013.
View Article : Google Scholar : PubMed/NCBI
|
|
55
|
Strungaru MH, Footz T, Liu Y, Berry FB,
Belleau P, Semina EV, Raymond V and Walter MA: PITX2 is involved in
stress response in cultured human trabecular meshwork cells through
regulation of SLC13A3. Invest Ophthalmol Vis Sci. 52:7625–7633.
2011. View Article : Google Scholar : PubMed/NCBI
|
|
56
|
Footz T, Idrees F, Acharya M, Kozlowski K
and Walter MA: Analysis of mutations of the PITX2 transcription
factor found in patients with Axenfeld-Rieger syndrome. Invest
Ophthalmol Vis Sci. 50:2599–2606. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
57
|
Acharya M, Lingenfelter DJ, Huang L, Gage
PJ and Walter MA: Human PRKC apoptosis WT1 regulator is a novel
PITX2-interacting protein that regulates PITX2 transcriptional
activity in ocular cells. J Biol Chem. 284:34829–34838. 2009.
View Article : Google Scholar : PubMed/NCBI
|
|
58
|
Semina EV, Reiter R, Leysens NJ, Alward
WL, Small KW, Datson NA, Siegel-Bartelt J, Bierke-Nelson D, Bitoun
P, Zabel BU, Carey JC and Murray JC: Cloning and characterization
of a novel bicoid-related homeobox transcription factor gene, RIEG,
involved in Rieger syndrome. Nat Genet. 14:392–399. 1996.
View Article : Google Scholar : PubMed/NCBI
|
|
59
|
Kirchhof P, Kahr PC, Kaese S, Piccini I,
Vokshi I, Scheld HH, Rotering H, Fortmueller L, Laakmann S,
Verheule S, Schotten U, Fabritz L and Brown NA: PITX2c is expressed
in the adult left atrium, and reducing Pitx2c expression promotes
atrial fibrillation inducibility and complex changes in gene
expression. Circ Cardiovasc Genet. 4:123–133. 2011. View Article : Google Scholar
|
|
60
|
Simard A, Di Giorgio L, Amen M, Westwood
A, Amendt BA and Ryan AK: The Pitx2c N-terminal domain is a
critical interaction domain required for asymmetric morphogenesis.
Dev Dyn. 238:2459–2470. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
61
|
Ganga M, Espinoza HM, Cox CJ, Morton L,
Hjalt TA, Lee Y and Amendt BA: PITX2 isoform-specific regulation of
atrial natriuretic factor expression: synergism and repression with
Nkx2.5. J Biol Chem. 278:22437–22445. 2003. View Article : Google Scholar
|
|
62
|
Furtado MB, Biben C, Shiratori H, Hamada H
and Harvey RP: Characterization of Pitx2c expression in the mouse
heart using a reporter transgene. Dev Dyn. 240:195–203. 2011.
View Article : Google Scholar : PubMed/NCBI
|
