* Les publications effectuées par les membres du regroupement grâce au RSCV sont en couleur

 

Génétique des maladies cardiaques congénitales

 

Christensen KE, Andelfinger GU, Michaud J, et al
The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects.
Hum Mutat. 2009 Feb;30(2):212-20

Torban E,  Andelfinger G, Epstein DJ, et al
Genetic interaction between members of the Vangl family causes neural tube defects in mice.
Proc Natl Acad Sci U S A. 2008 Mar 4;105(9):3449-54.

Cadrin-Tourigny J, Andelfinger G, Khairy P, et al.
Severe left ventricular dysfunction in infants with ventricular preexcitation.
Heart Rhythm. 2008 Sep;5(9):1320-2. Epub 2008 Aug 3.

Sarquella-Brugada G, Chetaille P, Andelfinger G., et al.
X-chromosome inactivation patterns in left ventricular outflow tract obstruction: epigenetic factors of disease expression.
Canadian Journal of Cardiology, 2008, 24 (SE): 604.

Hinton RB, Andelfinger G, Sekar P, et al.
Prenatal Head Growth and White Matter Injury in Hypoplastic Left Heart Syndrome.
Pediatr Res. 2008 Jun 11.

Andelfinger G.
Genetic factors in congenital heart malformation.
Clin Genet. 2008 Jun;73(6):516-27.

Aoki Y, Niihori T, Narumi Y, et al.
The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.
Hum Mutat. 2008 Aug;29(8):992-1006.

Nyström AM, Ekvall S, Berglund E, et al.
Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders.
J Med Genet. 2008 Aug;45(8):500-6.

Provost S, Chetaille P, Andelfinger G., et al.
Linkage of left ventricular outflow tract obstruction to Xq28 in 3 French-Canadian pedigrees.
Circulation. 2007;116:II_603-II-604.

Lemyre E, Andelfinger G.
Catch me if you can: tracking down the genetic origins of congenital heart disease.
Eur Heart J. 2007 Nov;28(22):2701-2.

Bajolle F, Zaffran S, Bonnet D.
Molecular aspects of congenital heart diseases
Arch Mal Coeur Vaiss. 2007 May;100(5):484-9. Review.

Lee ST, Ki CS, Lee HJ.
Mutation analysis of the genes involved in the Ras-mitogen-activated protein kinase (MAPK) pathway in Korean patients with Noonan syndrome.
Clin Genet. 2007 Aug;72(2):150-5.

Narumi Y, Aoki Y, Niihori T, et al.
Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.
Am J Med Genet A. 2007 Apr 15;143A(8):799-807.

Martin LJ, Ramachandran V, Andelfinger G, et al.
Evidence in favor of linkage to human chromosomal regions 18q, 5q and 13q for bicuspid aortic valve and associated cardiovascular malformations.
Hum Genet. 2007 Apr;121(2):275-84.

Kyndt F, Le Scouarnec S, Jaafar P et al.
Genetic aspects of valvulopathies
Arch Mal Coeur Vaiss. 2007 Dec;100(12):1013-20.

Sznajer Y, Keren B, Baumann C, et al.
Spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene.
Pediatrics. 2007 Jun;119(6):1325-31.

Orlowska-Baranowska E, Placha G, Baranowski R, et al
Can angiotensin II +1675 G/A type 2 receptor gene polymorphism be a marker of left ventricular hypertrophy in patients with aortic stenosis?
J Heart Valve Dis. 2007 Sep;16(5):495-503.

Pierpont ME, Basson CT, Benson DW Jr, et al.
Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics
Circulation.  2007 Jun 12;115(23):3015-38.

Wang CC, Hwu WL, Wu ET, et al.
Outcome of pulmonary and aortic stenosis in Williams-Beuren syndrome in an Asian cohort.
Acta Paediatr. 2007 Dec;96(12):1855; author reply 1855-6.

Shaw AC, Kalidas K, Crosby AH, et al.
The natural history of Noonan syndrome: a long-term follow-up study.
Arch Dis Child. 2007 Feb;92(2):128-32.

Tassabehji M, Urban Z.
Congenital heart disease: Molecular diagnostics of supravalvular aortic stenosis.
Methods Mol Med. 2006;126:129-56.

Bertola DR, Pereira AC, Albano LM, et al.
PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype
Genet Test. 2006 Fall;10(3):186-91.

Noonan JA.
Noonan syndrome and related disorders: alterations in growth and puberty.
Rev Endocr Metab Disord. 2006 Dec;7(4):251-5.

Niihori T, Aoki Y, Narumi Y, et al.
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
Nat Genet. 2006 Mar;38(3):294-6.

Reamon-Buettner SM, Spanel-Borowski K,  Borlak J.
Bridging the gap between anatomy and molecular genetics for an improved understanding of congenital heart disease.
Ann Anat. 2006 May;188(3):213-20. Review.

Garg V.
Insights into the genetic basis of congenital heart disease.
Cell Mol Life Sci. 2006 May;63(10):1141-8. Review.

 

Tétralogie de Fallot  et transposition des gros vaisseaux    Les défibrillateurs implantables

 

Khairy P, Harris L, Chetaille P, et al.
Defibrillators and sudden death in transposition of the great arteries with Mustard or Senning baffles.
Circulation: Arrhythmia and Electrophysiology 2008;1:250-257.

Witte KK, Pepper CB, Cowan JC, et al
Implantable cardioverter-defibrillator therapy in adult patients with tetralogy of Fallot.
Europace. 2008 Aug;10(8):926-30.

Khairy P. 
Defibrillators and cardiac resynchronization therapy in congenital heart disease: evolving indications.
Exp Rev Med Devices 2008;5(3):267-271.

Khairy P, Harris L, Chetaille P,  et al.
Implantable cardioverter-defibrillators in tetralogy of Fallot.
Circulation. 2008 Jan 22;117(3):363-70.

Berul CI, Van Hare GF, Kertesz NJ, et al.
Results of a multicenter retrospective implantable cardioverter-defibrillator registry of pediatric and congenital heart disease patients.
J Am Coll Cardiol. 2008 Apr 29;51(17):1685-91.

Undavia M, Love B, Gomes JA, et al.
Laser lead extraction and baffle stenting to facilitate dual chamber implantable defibrillator upgrade in a patient with L-transposition of the great arteries status-post Senning/Rastelli repair: a case report and review of literature.
Pacing Clin Electrophysiol.  2008 Jan;31(1):131-4.

Khairy P.
Programmed ventricular stimulation for risk stratification in patients with tetralogy of Fallot: a Bayesian perspective.
Nat Clin Pract Cardiovasc Med. 2007;4(6): 292-293.

Khairy P, Marelli AJ. 
Clinical use of electrocardiography in adults with congenital heart disease. 
Circulation 2007;116(23):2634-2746.

Mansour F, Brugada R, Khairy P, et al.
Shocking truths about implantable cardioverter defibrillator monitoring zones.
Pacing Clin Electrophysiol. 2007 Sep;30(9):1146-8.

Yap SC, Roos-Hesselink JW, Hoendermis ES, et al.
Outcome of implantable cardioverter defibrillators in adults with congenital heart disease: a multi-centre study.
Eur Heart J. 2007 Aug;28(15):1854-61.

Khairy P, Roux JF, Dubuc M, et al.
Laser lead extraction in adult congenital heart disease. 
J Cardiovasc Electrophys 2007;18(5):507-511.

Michael KA, Veldtman GR, Paisey JR, et al.
Cardiac defibrillation therapy for at risk patients with systemic right ventricular dysfunction secondary to atrial redirection surgery for dextro-transposition of the great arteries.
Eurospace. 2007 May;9(5):281-4.

Maron BJ, Spirito P, Shen WK, et al.
Implantable cardioverter-defibrillators and prevention of sudden cardiac death in hypertrophic cardiomyopathy.
JAMA. 2007 Jul 25;298(4):405-12. Erratum in: JAMA. 2007 Oct 3;298(13):1516.

Lopez JA, Lufschanowski R.
Use of a transvenous dual-chamber ICD after a mustard operation for d-transposition of the great vessels.
Tex Heart Inst J. 2007;34(2):218-21

Rey C.
The best of congenital heart disease in 2006.
Arch Mal Coeur Vaiss. 2007 Jan;100 Spec No 1:103-10.

Khairy P, Landzberg MJ, Gatzoulis MA, et al.
Transvenous pacing leads and systemic thromboemboli in patients with intracardiac shunts: a multicenter study.
Circulation 2006;113(20):2391-2397.

Khairy P, Fournier A, Thibault B, et al.
Cardiac resynchronization therapy in congenital heart disease.
Int J Cardiol. 2006 May;109(2):160-168.

 

Les arythmies

 

Wells R, Khairy P, Harris L, et al.  
Dofetilide for atrial arrhythmias in congenital heart disease: a multicenter study.
Pacing Clin Electrophysiol 2009;32(10):1313-1318.

Bouchardy J, Pilote L, Marelli AJ, et al
Atrial arrhythmias in adults with congenital heart disease.
Circulation. 2009 Oct 27;120(17):1679-86.

Trojnarska O, Grajek S, Kramer L, et al.
Risk factors of supraventricular arrhythmia in adults with congenital heart disease.
Cardiology Journal.2009;16(3):218-26.

Landzberg MJ, Cecchin F.
Atrial arrhythmias: a "call to arms" for congenital heart disease caregivers.
Circulation. 2009 Oct 27;120(17):1649-50. Epub 2009 Oct 12

Deal BJ, Mavroudis C, Jacobs JP, et al.
Arrhythmic complications associated with the treatment of patients with congenital cardiac disease: consensus definitions from the Multi-Societal Database Committee for Pediatric and Congenital Heart Disease.
Cardiol Young. 2008 Dec;18 Suppl 2:202-5. Review.

Mavroudis C, Deal BJ, Backer CL, et al.
Arrhythmia surgery in patients with and without congenital heart disease.
Ann Thorac Surg. 2008 Sep;86(3):857-68; discussion 857-68.

 

Coarctatation de l’aorte   Technique chirurgicale et par cathéter

 

Wong D, Benson LN, Van Arsdell GS, et al
Balloon angioplasty is preferred to surgery for aortic coarctation.
Cardiol Young. 2008 Feb;18(1):79-88. Epub 2008 Jan 21. Review.

Rodés-Cabau J, Miró J, Dancea A, et al
Comparison of surgical and transcatheter treatment for native coarctation of the aorta in patients > or = 1 year old. The Quebec Native Coarctation of the Aorta study.
Am Heart J. 2007 Jul;154(1):186-92.

Fernandes SM, Khairy P, Sanders SP, et al. 
Bicuspid aortic valve morphology and interventions in the young.
J Am Coll Cardiol. 2007;49(22):2211-2214. 

Matsui H, Adachi I, Uemura H, et al.
Anatomy of coarctation, hypoplastic and interrupted aortic arch: relevance to interventional/surgical treatment.
Expert Rev Cardiovasc Ther. 2007 Sep;5(5):871-80. Review.

Murakami T, Ueno M, Takeda A, Yakuwa S.
Pressure wave reflection after successful balloon dilatation of aortic coarctation.
Circ J. 2007 Nov;71(11):1821-2..

Lee CL, Lin JF, Hsieh KS, et al.
Balloon angioplasty of native coarctation and comparison of patients younger and older than 3 months.
Circ J. 2007 Nov;71(11):1781-4.

Høimyr H, Christensen TD, Emmertsen K, et al.
Surgical repair of coarctation of the aorta: up to 40 years of follow-up.
Eur J Cardiothorac Surg. 2006 Dec;30(6):910-6.

Godart F, Brevière GM, Francart C, et al.
Percutaneous angioplasty of native coarctation of the aorta. Results in children and young adults.
Arch Mal Coeur Vaiss. 2006 May;99(5):419-23.

Wang GY, Yang B, Wang ZF, et al.
Numed Cheatham-Platinum stent and balloon in balloon delivery catheter for treatment of native coarctation of the aorta.
Chin Med Sci J. 2006 Mar;21(1):65-7.

Carr JA.
The results of catheter-based therapy compared with surgical repair of adult aortic coarctation.
J Am Coll Cardiol. 2006 Mar 21;47(6):1101-7. Review.

Rao PS.
Coarctation of the aorta.
Curr Cardiol Rep. 2005 Nov;7(6):425-34. Review.

Ghez O, Benmiloud F, Chetaille P, et al.
Results of surgery for coarctation of the aorta in children under one year of age
Arch Mal Coeur Vaiss. 2005 May;98(5):492-8.

Webb G.
Treatment of coarctation and late complications in the adult.
Semin Thorac Cardiovasc Surg. 2005 Summer;17(2):139-42.

Fiore AC, Fischer LK, Schwartz T, et al.
Comparison of angioplasty and surgery for neonatal aortic coarctation.
Ann Thorac Surg. 2005 Nov;80(5):1659-64; discussion 1664-5.

Cowley CG, Orsmond GS, Feola P, et al.
Long-term, randomized comparison of balloon angioplasty and surgery for native coarctation of the aorta in childhood.
Circulation. 2005 Jun 28;111(25):3453-6.

 

Tendances de la mortalité des personnes souffrant de maladies cardiaques congénitales

 

Mackie AS, Ionescu-Ittu R,  Marelli AJ, et al.
Children and adults with congenital heart disease lost to follow-up: who and when?
Circulation. 2009 Jul 28;120(4):302-9.

Ionescu-Ittu R, Marelli AJ, Mackie AS, Pilote L.
Prevalence of severe congenital heart disease after folic acid fortification of grain products: time trend analysis in Quebec, Canada.
BMJ. 2009 May 12;338:b1673.

Marelli AJ, Mackie AS, Pilote L, et al.
Planning the specialized care of adult congenital heart disease patients: from numbers to guidelines; an epidemiologic approach.
Am Heart J. 2009 Jan;157(1):1-8.

Mackie AS, Ionescu-Ittu R, Marelli AJ, et al.
Hospital readmissions in children with congenital heart disease: a population-based study.
Am Heart J. 2008 Mar;155(3):577-84.

Khairy P, Fernandes SM, Mayer JE, et al.
Long-term survival, modes of death, and predictors of mortality in patients with Fontan surgery. 
Circulation 2008;117:85-92.

Abarbanell GL, Goldberg CS, Devaney EJ, et al.
Early surgical morbidity and mortality in adults with congenital heart disease: the University of Michigan experience.
Congenit Heart Dis. 2008 Mar;3(2):82-9.

Khairy P, Landzberg MJ. 
Adult congenital heart disease: towards prospective risk assessment of a multisystemic condition. 
Circulation 2008;117(18):2311-2312.

Engelfriet PM, Drenthen W, Pieper PG, et al.
Smoking and its effects on mortality in adults with congenital heart disease.
Int J Cardiol. 2008 Jun 23;127(1):93-7.

Billett J, Majeed A, Gatzoulis M, et al.
Trends in hospital admissions, in-hospital case fatality and population mortality from congenital heart disease in England, 1994 to 2004.
Heart. 2008 Mar;94(3):342-8.

Yeung E, Kay J, Roosevelt GE, et al.
Lapse of care as a predictor for morbidity in adults with congenital heart disease.
Int J Cardiol. 2008 Mar 28;125(1):62-5.

Khairy P, Poirier NC, Mercier LA.
Univentricular Heart.
Circulation 2007;115(6):800-812.

Izquierdo MT, Almenar L, Martínez-Dolz L, et al.
Mortality after heart transplantation in adults with congenital heart disease: a single-center experience.
Transplant Proc. 2007 Sep;39(7):2357-9.

Marelli AJ, Mackie AS, Ionescu-Ittu R, et al.
Congenital heart disease in the general population: changing prevalence and age distribution.
Circulation. 2007 Jan 16;115(2):163-72.

Mackie AS, Pilote L, Marelli AJ, et al
Health care resource utilization in adults with congenital heart disease.
Am J Cardiol. 2007 Mar 15;99(6):839-43.

Westaby S, Archer N, Manning N, et al
Comparison of hospital episode statistics and central cardiac audit database in public reporting of congenital heart surgery mortality.
BMJ. 2007 Oct 13;335(7623):759.

Borghi A, Ciuffreda M, Quattrociocchi M, et al.
The grown-up congenital cardiac patient.
J Cardiovasc Med (Hagerstown). 2007 Jan;8(1):78-82. Review.

Mildh L, Pettilä V, Sairanen H, et al.
Predictive value of paediatric risk of mortality score and risk adjustment for congenital heart surgery score after paediatric open-heart surgery.
Interact Cardiovasc Thorac Surg. 2007 Oct;6(5):628-31.

Benavidez OJ, Gauvreau K, Jenkins KJ.
Racial and ethnic disparities in mortality following congenital heart surgery.
Pediatr Cardiol. 2006 May-Jun;27(3):321-8.