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Page 1
Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog.
Digilio MC, Pugnaloni F, De Luca A, Calcagni G, Baban A, Dentici ML, Versacci P, Dallapiccola B, Tartaglia M, Marino B. Digilio MC, et al. Clin Genet. 2019 Feb;95(2):268-276. doi: 10.1111/cge.13375. Epub 2018 May 23. Clin Genet. 2019. PMID: 29722020 Review.
The atrioventricular canal defect (AVCD) is a congenital heart defect (CHD) frequently associated with extracardiac anomalies (75%). Previous observations from a personal series of patients with AVCD and "polydactyly syndromes" showed that the distinct …
The atrioventricular canal defect (AVCD) is a congenital heart defect (CHD) frequently associated with extracardiac ano …
Atrioventricular canal defect in patients with RASopathies.
Digilio MC, Romana Lepri F, Dentici ML, Henderson A, Baban A, Roberti MC, Capolino R, Versacci P, Surace C, Angioni A, Tartaglia M, Marino B, Dallapiccola B. Digilio MC, et al. Eur J Hum Genet. 2013 Feb;21(2):200-4. doi: 10.1038/ejhg.2012.145. Epub 2012 Jul 11. Eur J Hum Genet. 2013. PMID: 22781091 Free PMC article.
Among RASopathies, atrioventricular canal defect was observed to occur with higher prevalence among subjects with PTPN11 mutations, even though this association was not significant possibly because of low statistical power. Familial segregation of a …
Among RASopathies, atrioventricular canal defect was observed to occur with higher prevalence among subjects wit …
Atrioventricular valve regurgitation in the fetus with atrioventricular canal defect: transition from prenatal to postnatal life.
Davey B, Thacker D, Rychik J. Davey B, et al. Pediatr Cardiol. 2013;34(8):1797-802. doi: 10.1007/s00246-013-0711-7. Epub 2013 May 12. Pediatr Cardiol. 2013. PMID: 23666083 Free PMC article.
Atrioventricular valve regurgitation (AVVR) is a clinically important element of the common atrioventricular canal defect. Cardiac preload and afterload increase from prenatal to postnatal life. ...After birth, 69 % subjects had no change, 8 % of subjects had …
Atrioventricular valve regurgitation (AVVR) is a clinically important element of the common atrioventricular canal defect …
Preoperative Clinical and Echocardiographic Factors Associated with Surgical Timing and Outcomes in Primary Repair of Common Atrioventricular Canal Defect.
Burstein DS, Gray PE, Griffis HM, Glatz AC, Cohen MS, Gaynor JW, Goldberg DJ. Burstein DS, et al. Pediatr Cardiol. 2019 Jun;40(5):1057-1063. doi: 10.1007/s00246-019-02116-0. Epub 2019 May 7. Pediatr Cardiol. 2019. PMID: 31065759

In complete atrioventricular canal defect (CAVC), there are limited data on preoperative clinical and echocardiographic predictors of operative timing and postoperative outcomes. ...Aortic isthmus z score < - 2 was associated with early surgi

…
In complete atrioventricular canal defect (CAVC), there are limited data on preoperative clinical and echocardiographic …
Biventricular conversion after Fontan completion: A preliminary experience.
Doulamis IP, Marathe SP, Piekarski B, Beroukhim RS, Marx GR, Del Nido PJ, Emani SM. Doulamis IP, et al. J Thorac Cardiovasc Surg. 2022 Mar;163(3):1211-1223. doi: 10.1016/j.jtcvs.2021.04.076. Epub 2021 May 4. J Thorac Cardiovasc Surg. 2022. PMID: 34045059 Free article.
A subset of patients (n = 6) underwent procedures for staged recruitment of the nondominant ventricle before conversion. Median z score of end-diastolic volume of borderline ventricle before takedown was -2.3 (-3.3, -1.3). ...The overall, 3-year reoperation-free survival w …
A subset of patients (n = 6) underwent procedures for staged recruitment of the nondominant ventricle before conversion. Median z score …
An Analysis of Hospital Mortality After Cardiac Operations in Children With Down Syndrome.
Dhillon GS, Ghanayem NS, Broda CR, Lalani SR, Mery CM, Shekerdemian LS, Staffa SJ, Morris SA. Dhillon GS, et al. Semin Thorac Cardiovasc Surg. 2020 Winter;32(4):947-957. doi: 10.1053/j.semtcvs.2020.06.037. Epub 2020 Jul 2. Semin Thorac Cardiovasc Surg. 2020. PMID: 32621963
Hospital mortality, length-of-stay and charges were compared between DS and NS groups, stratified by CHD operation using mixed-effects multivariable analyses and propensity score matching analyses adjusting for prematurity, low birth weight, age, and sex. ...By multivariab …
Hospital mortality, length-of-stay and charges were compared between DS and NS groups, stratified by CHD operation using mixed-effects multi …
Pulmonary vascular disease and operative indications in complete atrioventricular canal defect in early infancy.
Yamaki S, Yasui H, Kado H, Yonenaga K, Nakamura Y, Kikuchi T, Ajiki H, Tsunemoto M, Mohri H. Yamaki S, et al. J Thorac Cardiovasc Surg. 1993 Sep;106(3):398-405. J Thorac Cardiovasc Surg. 1993. PMID: 8361179
Morphometric analysis of medial thickness revealed that thinning of the media of the small pulmonary arteries is generally observed at around 6 months of age in patients with complete atrioventricular canal defect and that the media in patients who hav …
Morphometric analysis of medial thickness revealed that thinning of the media of the small pulmonary arteries is generally observed a …
Predictors of increased postoperative length of stay after complete atrioventricular canal repair.
Habermann AC, Meza JM, Dischinger AN, Kang L, Prabhu NK, Benkert AR, Turek JW, Andersen ND. Habermann AC, et al. Cardiol Young. 2023 Sep;33(9):1657-1662. doi: 10.1017/S1047951122003067. Epub 2022 Sep 28. Cardiol Young. 2023. PMID: 36168722 Free PMC article.
BACKGROUND: The optimal timing of surgical repair for infants with complete atrioventricular canal defect remains controversial, as there are risks to both early and late repair. ...
BACKGROUND: The optimal timing of surgical repair for infants with complete atrioventricular canal defect remains contr …
Fetal complete common atrioventricular canal defect: spontaneous closure of the ventricular septal defect--in utero anatomic evolution and postnatal outcomes.
Adebo D, Louis JS, Prosen T, Sivanandam S. Adebo D, et al. World J Pediatr Congenit Heart Surg. 2013 Apr;4(2):177-81. doi: 10.1177/2150135113476521. World J Pediatr Congenit Heart Surg. 2013. PMID: 23799731
BACKGROUND: We describe in utero anatomic evolution and postnatal outcome of complete common atrioventricular canal defect (CCAVCD). METHODS: Retrospective data on 31 fetuses with CCAVCD were analyzed. ...Four infants in whom spontaneous intrauterine closure …
BACKGROUND: We describe in utero anatomic evolution and postnatal outcome of complete common atrioventricular canal defect …
Two pedigrees of autosomal dominant atrioventricular canal defect (AVCD): exclusion from the critical region on 8p.
Amati F, Mari A, Mingarelli R, Gennarelli M, Digilio MC, Giannotti A, Marino B, Novelli G, Dallapiccola B. Amati F, et al. Am J Med Genet. 1995 Jul 3;57(3):483-8. doi: 10.1002/ajmg.1320570325. Am J Med Genet. 1995. PMID: 7677156
These two families include affected individuals and subjects who have transmitted the defect but are not clinically affected. Two-point lod scores were significantly negative for all markers at penetrance levels of 90% and 50%. ...
These two families include affected individuals and subjects who have transmitted the defect but are not clinically affected. Two-point lod …
29 results