Atrioventricular Septal Defects: Pathology, Imaging, and Treatment Options

Taqatqa, Anas; Vettukattil, Joseph J.

doi:10.1007/s11886-021-01523-1

Cited by 10 publications

(5 citation statements)

References 67 publications

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“…An atrioventricular septal defect (AVSD) was noted in both. An AVSD forms due to a failure of fusion of one or more of the dorsal mesenchymal protrusion (vestibular spine), mesenchymal cap, atrioventricular (AV) endocardial cushions or primary atrial septum with the other components (Burns et al., 2016 ; Taqatqa & Vettukattil, 2021 ; Webb et al., 1998 ). This results in variations of a common AV junction and valve (Anderson et al., 2010 ).…”

Section: Resultsmentioning

confidence: 99%

Effect of deletion of the protein kinase PRKD1 on development of the mouse embryonic heart

Waheed‐Ullah,

Wilsdon,

Abbad

et al. 2024

Journal of Anatomy

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Congenital heart disease (CHD) is the most common congenital anomaly, with an overall incidence of approximately 1% in the United Kingdom. Exome sequencing in large CHD cohorts has been performed to provide insights into the genetic aetiology of CHD. This includes a study of 1891 probands by our group in collaboration with others, which identified three novel genes—CDK13, PRKD1, and CHD4, in patients with syndromic CHD. PRKD1 encodes a serine/threonine protein kinase, which is important in a variety of fundamental cellular functions. Individuals with a heterozygous mutation in PRKD1 may have facial dysmorphism, ectodermal dysplasia and may have CHDs such as pulmonary stenosis, atrioventricular septal defects, coarctation of the aorta and bicuspid aortic valve. To obtain a greater appreciation for the role that this essential protein kinase plays in cardiogenesis and CHD, we have analysed a Prkd1 transgenic mouse model (Prkd1em1) carrying deletion of exon 2, causing loss of function. High‐resolution episcopic microscopy affords detailed morphological 3D analysis of the developing heart and provides evidence for an essential role of Prkd1 in both normal cardiac development and CHD. We show that homozygous deletion of Prkd1 is associated with complex forms of CHD such as atrioventricular septal defects, and bicuspid aortic and pulmonary valves, and is lethal. Even in heterozygotes, cardiac differences occur. However, given that 97% of Prkd1 heterozygous mice display normal heart development, it is likely that one normal allele is sufficient, with the defects seen most likely to represent sporadic events. Moreover, mRNA and protein expression levels were investigated by RT‐qPCR and western immunoblotting, respectively. A significant reduction in Prkd1 mRNA levels was seen in homozygotes, but not heterozygotes, compared to WT littermates. While a trend towards lower PRKD1 protein expression was seen in the heterozygotes, the difference was only significant in the homozygotes. There was no compensation by the related Prkd2 and Prkd3 at transcript level, as evidenced by RT‐qPCR. Overall, we demonstrate a vital role of Prkd1 in heart development and the aetiology of CHD.

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Section: Resultsmentioning

confidence: 99%

Effect of deletion of the protein kinase PRKD1 on development of the mouse embryonic heart

Waheed‐Ullah,

Wilsdon,

Abbad

et al. 2024

Journal of Anatomy

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“…Our research revealed more than half (58%) AVSD fetuses were the complete, and this was consistent with Miller ( 21 ). Even though 80% ( 22 ) AVSD are with no other cardiac malformations, more than 45% ( 23 ) of AVSD combined with Down syndrome. In addition, other combinations including the outflow tract obstruction and the heterotaxia syndrome could make a great influence on the prognosis ( 24 , 25 ).…”

Section: Discussionmentioning

confidence: 99%

Application of neural networks in prenatal diagnosis of atrioventricular septal defect

Zhou,

Yang,

Ruan

et al. 2024

Transl Pediatr

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Background There is no relevant study on landmarks detection, one of the Convolutional Neural Network algorithms, in the field of fetal echocardiography (FE). This study aimed to explore whether automatic landmarks detection could be used in FE correctly and whether the atrial length (AL) to ventricular length (VL) ratio (AVLR) could be used to diagnose atrioventricular septal defect (AVSD) prenatally. Methods This was an observational study. Two hundred and seventy-eight four-chamber views in end diastole, divided into the normal, AVSD, and differential diagnosis groups, were retrospectively included in this study. Seven landmarks were labeled sequentially by the experts on these images, and all images were divided into the training and test sets for normal, AVSD, and differential diagnosis groups. U-net, MA-net, and Link-net were used as landmark prediction neural networks. The accuracy of the landmark detection, AL, and VL measurements, as well as the prenatal diagnostic effectiveness of AVLR for AVSD, was compared with the expert labeled. Results U-net, MA-net, and Link-net could detect the landmarks precisely (within the localization error of 0.09 and 0.13 on X and Y axis) and measure AL and VL accurately (the measured pixel distance error of AL and VL were 0.12 and 0.01 separately). AVLR in AVSD was greater than in other groups (P<0.0001), but the statistical difference was not obvious in the complete, partial, and transitional subgroups (P>0.05). The diagnostic effectiveness of AVLR calculated by three models, area under receiver operating characteristic curve could reach 0.992 (0.968–1.000), was consistent with the expert labeled. Conclusions U-net, Link-net, and MA-net could detect landmarks and make the measurements accurately. AVLR calculated by three neural networks could be used to make the prenatal diagnosis of AVSD.

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“…As for all congenital heart disease, there are some genetical disorders responsible for the formation of VSDs during the intrauterine fetal development, which can lead to a disruption of a very sensitive and complex process of normal morphogenesis of heart and great vessels. These genetic disorders may also be related to teratogenic exogenous factors [ 6 ].…”

Section: Discussionmentioning

confidence: 99%

Ventricular septal defect associated with aortic regurgitation and ascending aortic aneurysm: a case report

Haliti,

Bytyçi,

Henein

et al. 2023

J Med Case Reports

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Introduction Ventricular septal defect (VSD) is one of the most common congenital cardiac anomalies. Patients with perimembranous VSD may have aortic regurgitation (AR) secondary to prolapse of the aortic cusp. Case presentation We present a case of 23-year-old White man with VSD, AR and ascending aortic aneurysm. The patient presented to outpatient clinic with weakness and gradual worsening shortness of breath for the past 5 years. Clinical examination revealed regular heart rhythm and loud continuous systolic-diastolic murmur (Lewin’s grade 6/6), heard all over the precordium, associated with a palpable thrill. The ECG showed right axis deviation, fractionated QRS in V1 and signs of biventricular hypertrophy. The chest X-ray showed cardiomegaly. Transthoracic and transesophageal echocardiograms showed a perimembranous VSD with moderate restrictive shunt (Qp/Qs = 1.6), aortic regurgitation (AR), and ascending aortic aneurysm. Other clinical and laboratory findings were within normal limits. Conclusions Perimembranous VSD, may be associated with aortic regurgitation and ascending aortic aneurysm as secondary phenomenon if it is not early diagnosed and successfully treated.

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Atrioventricular Septal Defects: Pathology, Imaging, and Treatment Options

Cited by 10 publications

References 67 publications

Effect of deletion of the protein kinase PRKD1 on development of the mouse embryonic heart

Effect of deletion of the protein kinase PRKD1 on development of the mouse embryonic heart

Application of neural networks in prenatal diagnosis of atrioventricular septal defect

Ventricular septal defect associated with aortic regurgitation and ascending aortic aneurysm: a case report

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