Complete atrioventricular septal defect in the era of prenatal diagnosis

Mureşan, Daniel; Mărginean, Cristina Oana; Zaharie, Gabriela; Stamatian, Florin; Rotar, Ioana Cristina

doi:10.11152/mu-879

Cited by 11 publications

(16 citation statements)

References 42 publications

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“…AVSD has been associated with other heart abnormalities in more than half of children, while extracardiac abnormalities have been found in 25–30% of them, similarly to other reports in literature ( 27 , 30 , 31 ). Digestive system and musculoskeletal anomalies were more frequent in DS group, while isomerism was identified only in the group WDS.…”

Section: Discussionsupporting

confidence: 86%

“…The detection rate of DS in pregnancy may be 90–95%, which leads to an earlier detection of congenital heart diseases, especially of AVSD. In this case, most families choose to termination of pregnancy ( 9 , 27 , 28 ). However, in this cohort, only four children with AVSD were diagnosed during pregnancy and the parents decided to continue the pregnancy.…”

Section: Discussionmentioning

confidence: 99%

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Challenges in the Surgical Treatment of Atrioventricular Septal Defect in Children With and Without Down Syndrome in Romania-A Developing Country

et al. 2021

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Background: Atrioventricular septal defect (AVSD) is a cardiac malformation that accounts for up to 5% of total congenital heart disease, occurring with high frequency in people with Down Syndrome (DS). We aimed to establish the surgical challenges and outcome of medical care in different types of AVSD in children with DS compared to those without DS (WDS).Methods: The study included 62 children (31 with DS) with AVSD, evaluated over a 5 year period.Results: Complete AVSD was observed in 49 (79%) children (27 with DS). Six children had partial AVSD (all WDS) and seven had intermediate types of AVSD (4 with DS). Eight children had unbalanced complete AVSD (1 DS). Median age at diagnosis and age at surgical intervention in complete AVSD was not significantly different in children with DS compared to those WDS (7.5 months vs. 8.6). Median age at surgical intervention for partial and transitional AVSDs was 10.5 months for DS and 17.8 months in those without DS. A large number of patients were not operated: 13/31 with DS and 8/31 WDS.Conclusion: The complete form of AVSD was more frequent in DS group, having worse prognosis, while unbalanced AVSD was observed predominantly in the group without DS. Children with DS required special attention due to increased risk of pulmonary hypertension. Late diagnosis was an important risk factor for poor prognosis, in the setting of suboptimal access to cardiac surgery for patients in Romania. Although post-surgery mortality was low, infant mortality before surgery remains high. Increased awareness is needed in order to provide early diagnosis of AVSD and enable optimal surgical treatment.

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Section: Discussionsupporting

confidence: 86%

Section: Discussionmentioning

confidence: 99%

Challenges in the Surgical Treatment of Atrioventricular Septal Defect in Children With and Without Down Syndrome in Romania-A Developing Country

et al. 2021

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“…Fetal malformations present multidisciplinary involvements regarding the diagnosis, the therapeutic approach and the prognosis [18][19][20][21][22][23][24][25][26][27][28]. Therefore, prenatal diagnosis is the cornerstone factor that can influence the prognosis of these fetuses.…”

Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of cleft lip and cleft lip palate – a case series

et al. 2018

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Aim: Orofacial clefts comprise cleft lip (CL) or cleft lip-palate (CLP) and are the most frequently encountered malformation of the facial region, accounting for approximately 1-2.2/1,000 live births. The aim of this study was to reveal the particularities regarding the prenatal diagnosis of orofacial clefts in a series of 11 cases diagnosed in a tertiary center.Material and methods: The study was performed in a tertiary diagnostic center for a period of 8 years (January 2010 – December 2017), on8125 patients that were assessed for screening or suspicion of malformations.Results: During the assessed period a number of 11 fetuses (0.13%) were diagnosed by 2D and 3D ultrasound with CL (4 cases) or CLP (7 cases). The smallest gestational age at diagnosis was of 14 weeks, whereas the highest was 35 weeks. Of the 7 cases diagnosed with CLP, 4 presented also other associated anomalies that involved the central nervous system, the kidney, the skeleton and the stomach. All 4 cases of CL had identifiable associated anomalies. Termination of pregnancy was encountered in 3 cases with CLP.Conclusions: CLP can be diagnosed even at the end of the 1st trimester of pregnancy. CL is usually diagnosed during the 2nd trimester ultrasound exam and is commonly an isolated anomaly.

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“…The most frequently detected anomalies are CAVSD. Complete AVSD is a complex heart anomaly characterized by variable defects in both atria and ventricles, the septum and the AV valves (11) .…”

Section: Discussionmentioning

confidence: 99%

Outcomes of Complete Atrioventricular Septal Defect Surgical Repair in Down Patients

Soliman

Abdelrehim²,

Alnajjar³

et al. 2021

The Egyptian Journal of Hospital Medicine

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Background: Atrioventricular septal defect (AVSD) is commonly associated with chromosomal abnormalities, especially trisomy 21 or Down syndrome (DS). Surgical repair of complete AVSD (CAVSD) is a complex procedure that carries risks of postoperative morbidity and mortality. Objective: To evaluate the surgical outcomes and to identify the risk factors for hospital mortality and reoperation after repair of CAVSD in DS patients. Patients and Methods: This retrospective cohort study included 65 consecutive DS patients who underwent surgical correction for the complete form of AVSD with or without associated congenital heart diseases during the period from 1 st January 2014 to the end of June 2020. Patients with associated other major cardiac anomalies were excluded. Results: In-hospital mortality was documented in 3 (4.6%) patients, whereas 4 (6.2%) patients needed second unplanned operation for valve/shunt correction. Heart block that needed permanent pacemaker insertion was recorded in 3 (4.6%) patients. In-hospital mortality was significantly associated with prolonged cardiopulmonary bypass (CPB) time (p = 0.008) and the development of renal dysfunction that required dialysis or sepsis (p = 0.004). We found a significant association between the need for second unplanned operation and type A CAVSD (p = 0.041) and the presence of preoperative moderate/severe atrioventricular (AV) valve regurgitation as detected in the transesophageal echocardiography (TEE) (p=0.035). Conclusions: In view of the incidence of the hospital mortality, reoperation, and other postoperative morbidities, we suggest that our outcomes are accepted for surgical repair of CAVSD in DS patients. The CPB time and the development of renal dysfunction that required dialysis and sepsis during the ICU care significantly contributed to the hospital mortality.

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Complete atrioventricular septal defect in the era of prenatal diagnosis

Cited by 11 publications

References 42 publications

Challenges in the Surgical Treatment of Atrioventricular Septal Defect in Children With and Without Down Syndrome in Romania-A Developing Country

Challenges in the Surgical Treatment of Atrioventricular Septal Defect in Children With and Without Down Syndrome in Romania-A Developing Country

Prenatal diagnosis of cleft lip and cleft lip palate – a case series

Outcomes of Complete Atrioventricular Septal Defect Surgical Repair in Down Patients

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