Genes, Vol. 12, Pages 1368: The Genetic Architecture of a Congenital Heart Defect Is Related to Its Fitness Cost
Patrick Y. Jay In newborns, severe congenital heart defects are rarer than mild ones. This epidemiological relationship between heart defect severity and incidence lacks explanation. Here, an analysis of ~10,000 Nkx2-5+/− mice from two inbred strain crosses illustrates the fundamental role of epistasis. Modifier genes raise or lower the risk of specific defects via pairwise (G×GNkx) and higher-order (G×G×GNkx) interactions with Nkx2-5. Their effect sizes correlate with the severity of a defect. The risk loci for mild, atrial septal defects exert predominantly small G×GNkx effects, while the loci for severe, atri...
Source: Genes - August 31, 2021 Category: Genetics & Stem Cells Authors: Ehiole Akhirome Suk D. Regmi Rachel A. Magnan Nelson Ugwu Yidan Qin Claire E. Schulkey James M. Cheverud Patrick Y. Jay Tags: Article Source Type: research

Mitral valve surgery in the treatment of atrioventricular septal defect
Orv Hetil. 2021 Aug 29;162(35):1397-1401. doi: 10.1556/650.2021.32199.ABSTRACTÖsszefoglaló. A veleszületett szívbetegségek egyik gyakori formáját jelentő atrioventricularis septumdefektus korrekciós műtétjének kritikus pontja a közös atrioventricularis szájadék elválasztásával a mitralis billentyű kialakítása. A korrekció sikere számos anatómiai variáns függvénye, ezért nem lehet minden esetben a tökéletes anatómiai viszonyokat kialakítani. A fennmaradó billentyűstenosisok, regurgitatiók a későbbi életkorban progressziót mutatva olyan hemodinamikai kórképeket, keringési elégtelen...
Source: Orvosi Hetilap - August 30, 2021 Category: General Medicine Authors: Istv án Hartyánszky G ábor Bogáts Source Type: research

A Modified Technique for Valve Regurgitation after Partial Atrioventricular Septal Defect Repair
Ann Thorac Surg. 2021 Aug 25:S0003-4975(21)01463-6. doi: 10.1016/j.athoracsur.2021.07.071. Online ahead of print.ABSTRACTGiven its complex pathological anatomy, recurrent left atrioventricular valve regurgitation after partial atrioventricular septal defect repair remains a challenge for surgical correction. Here, we introduce a modified bridging technique by shortening the anteroposterior leaflet distance in selected patients with inadequate coaptation to compensate for the short leaflet height, specifically that of the anterior leaflet.PMID:34453925 | DOI:10.1016/j.athoracsur.2021.07.071 (Source: The Annals of Thoracic Surgery)
Source: The Annals of Thoracic Surgery - August 28, 2021 Category: Cardiovascular & Thoracic Surgery Authors: Wei-Teng Wang Ou-Di Chen Xin Li Jian-Zheng Cen Jin-Lin Wu Qing-Yan Ma Xu-Hua Jian Source Type: research

A Modified Technique for Valve Regurgitation after Partial Atrioventricular Septal Defect Repair
Ann Thorac Surg. 2021 Aug 25:S0003-4975(21)01463-6. doi: 10.1016/j.athoracsur.2021.07.071. Online ahead of print.ABSTRACTGiven its complex pathological anatomy, recurrent left atrioventricular valve regurgitation after partial atrioventricular septal defect repair remains a challenge for surgical correction. Here, we introduce a modified bridging technique by shortening the anteroposterior leaflet distance in selected patients with inadequate coaptation to compensate for the short leaflet height, specifically that of the anterior leaflet.PMID:34453925 | DOI:10.1016/j.athoracsur.2021.07.071 (Source: The Annals of Thoracic Surgery)
Source: The Annals of Thoracic Surgery - August 28, 2021 Category: Cardiovascular & Thoracic Surgery Authors: Wei-Teng Wang Ou-Di Chen Xin Li Jian-Zheng Cen Jin-Lin Wu Qing-Yan Ma Xu-Hua Jian Source Type: research

Impact of concomitant complex cardiac anatomy in nonsyndromic patients with complete atrioventricular septal defect
We studied a cohort of nonsyndromic cAVSD patients with and without concomitant complex cardiac anatomy and compared the outcomes following surgical repair. (Source: The Journal of Thoracic and Cardiovascular Surgery)
Source: The Journal of Thoracic and Cardiovascular Surgery - August 19, 2021 Category: Cardiovascular & Thoracic Surgery Authors: Jens Johansson Ramgren, Igor Zindovic, Shahab Nozohoor, Ronny Gustafsson, Nina Hakacova, Johan Sj ögren Source Type: research

Atrioventricular valve repair in patients with single ventricle: emulating the fibrous skeleton of the heart
Atrioventricular valve (AVV) dysfunction is a common cause of reoperation and morbidity in patients with atrioventricular septal defects (AVSD). In the setting of AVSD with single ventricle physiology, the risk of atrioventricular valve failure is particularly high, and repair of the common AVV in these patients is notoriously challenging. Furthermore, patients with significant residual AVV regurgitation, after attempted repair, are at particularly high risk of mortality. One of the key factors which contributes to regurgitation in patients with common AVV is the lack of a normal fibrous skeleton of the heart. (Source: Ope...
Source: Operative Techniques in Cardiac and Thoracic Surgery - August 14, 2021 Category: Cardiovascular & Thoracic Surgery Authors: Edward Buratto, Igor E. Konstantinov Tags: Congenital Source Type: research

Atrioventricular valve repair in patients with a single ventricle: emulating the fibrous skeleton of the heart
Atrioventricular valve (AVV) dysfunction is a common cause of reoperation and morbidity in patients with atrioventricular septal defects (AVSDs). In the setting of AVSD with single ventricle physiology, the risk of AVV failure is particularly high, and repair of the common AVV in these patients is notoriously challenging. Furthermore, patients with significant residual AVV regurgitation, after attempted repair, are at particularly high risk of mortality. One of the key factors which contributes to regurgitation in patients with a common AVV is the lack of a normal fibrous skeleton of the heart. (Source: Operative Technique...
Source: Operative Techniques in Cardiac and Thoracic Surgery - August 14, 2021 Category: Cardiovascular & Thoracic Surgery Authors: Edward Buratto, Igor E. Konstantinov Tags: Congenital Source Type: research

Three-dimensional transesophageal echocardiography in diagnosis of intermediate atrioventricular septal defect in the adult: case report and literature review
Intermediate type atrioventricular septal defect is less frequent than complete or partial atrioventricular septal defect, and is rarely encountered in the elderly and the utility of three dimensional transeso... (Source: Journal of Cardiothoracic Surgery)
Source: Journal of Cardiothoracic Surgery - July 30, 2021 Category: Cardiovascular & Thoracic Surgery Authors: Ingrid Schusterova, Marta Jakubova, Marianna Vachalcova, Karolinska Sieradzka, Claudia Gibarty, Tibor Poruban, Ivo Gasparovic and Panagiotis Artemiou Tags: Case report Source Type: research

Commentary: Does atrioventricular septal defect atrial fenestration treat the child … or the surgeon?
Dr Connor Callahan, the Kirklin/Ashburn Fellow from the Congenital Heart Surgeons' Society, has presented a provocative manuscript challenging the value of an intentionally created atrial fenestration in children undergoing biventricular repair of atrioventricular septal defect (AVSD).1 This is a comprehensive review of 581 patients enrolled from 32 Congenital Heart Surgeons' Society institutions. An atrial fenestration was created in 23% of the patients. (Source: The Journal of Thoracic and Cardiovascular Surgery)
Source: The Journal of Thoracic and Cardiovascular Surgery - July 27, 2021 Category: Cardiovascular & Thoracic Surgery Authors: Carl L. Backer Tags: Commentary Source Type: research

Commentary: Does atrioventricular septal defect atrial fenestration treat the child … or the surgeon?
Dr Connor Callahan, the Kirklin/Ashburn Fellow from the Congenital Heart Surgeons' Society, has presented a provocative manuscript challenging the value of an intentionally created atrial fenestration in children undergoing biventricular repair of atrioventricular septal defect (AVSD).1 This is a comprehensive review of 581 patients enrolled from 32 Congenital Heart Surgeons' Society institutions. An atrial fenestration was created in 23% of the patients. (Source: The Journal of Thoracic and Cardiovascular Surgery)
Source: The Journal of Thoracic and Cardiovascular Surgery - July 27, 2021 Category: Cardiovascular & Thoracic Surgery Authors: Carl L. Backer Tags: Commentary Source Type: research

Prenatal identification of aberrant right subclavian artery in isolation: the need for further genetic work-up?
The objective of this study was to evaluate the association between aberrant right subclavian artery (ARSA) and chromosomal abnormalities. The study included 5211 women having attended our unit for fetal anatomic screening and fetal echocardiography from August 2016 until February 2019. After diagnosing ARSA, prenatal invasive testing was discussed with the patients. ARSA affected fetus was determined in 57 cases; of these, there were 38 cases of isolated ARSA and 19 cases of non-isolated ARSA but associated with soft markers and fetal anomalies. Nineteen patients underwent amniocentesis; Down syndrome was determined in tw...
Source: Acta Clinica Croatica - July 21, 2021 Category: General Medicine Authors: Reyhan Ayaz Emine G öktas Gurcan Turkyilmaz Mehmet Resit Asoglu Source Type: research