Expert Consensus Statement: Anatomy, Imaging, and Nomenclature of Congenital Aortic Root Malformations

Tretter, Justin T.; Spicer, Diane E.; Franklin, Rodney C. G.; Béland, Marie J.; Aiello, Vera Demarchi; Cook, Andrew C.; Crucean, Adrian; Loomba, Rohit S.; Yoo, Shi‐Joon; Quintessenza, James A.; Tchervenkov, Christo I.; Jacobs, Jeffrey P.; Najm, Hani K.; Anderson, Robert H.

doi:10.1016/j.athoracsur.2023.03.023

Cited by 12 publications

(2 citation statements)

References 48 publications

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“…Standardization of terms was provided by the International Paediatric and Congenital Cardiac Code and the Eleventh iteration of the International Classification of Diseases (Jacobs et al., 2021 ). Importantly, this has recently been further amended by Tretter and colleagues (Tretter et al., 2023a , 2023b ). HREM is a valuable technology for morphological analysis.…”

Section: Discussionmentioning

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: Discussionmentioning

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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“…Aortic valvar repair is increasingly pursued for treating aortic valvar pathologies when feasible, aiming to restore valvar function and avoid the need for valvar replacement. This, however, requires a thorough understanding of the complex anatomy of the aortic root and its valve, and technical proficiency which is only obtained with experience and time spent on this steep learning curve [1]. Accurate evaluation of the repaired valve is crucial for assessing immediate surgical outcomes and optimizing post-operative management.…”

Section: Introductionmentioning

confidence: 99%

Blood Speckle Imaging: An Emerging Method for Perioperative Evaluation of Subaortic and Aortic Valvar Repair

Sundström,

Jiang,

Najm

et al. 2023

Bioengineering

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Background: This article presents the use of blood speckle Imaging (BSI) as an echocardiographic approach for the pre- and post-operative evaluation of subaortic membrane resection and aortic valve repair. Method: BSI, employing block-matching algorithms, provided detailed visualization of flow patterns and quantification of parameters from ultrasound data. The 9-year-old patient underwent subaortic membrane resection and peeling extensions of the membrane from under the ventricular-facing surface of all three aortic valve leaflets. Result: Post-operatively, BSI demonstrated improvements in hemodynamic patterns, where quantified changes in flow velocities showed no signs of stenosis and trivial regurgitation. The asymmetric jet with a shear layer and flow reversal on the posterior aspect of the aorta was corrected resulting in reduced wall shear stress on the anterior aspect and reduced oscillatory shear index, which is considered a contributing element in cellular alterations in the structure of the aortic wall. Conclusion: This proof-of-concept study demonstrates the potential of BSI as an emerging echocardiographic approach for evaluating subaortic and aortic valvar repair. BSI enhances the quantitative evaluation of the left ventricular outflow tract of immediate surgical outcomes beyond traditional echocardiographic parameters and aids in post-operative decision-making. However, larger studies are needed to validate these findings and establish standardized protocols for clinical implementation.

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Aortic root morphometry revisited—Clinical implications for aortic valve interventions

Dudkiewicz,

Lis,

Yakovliev

et al. 2024

Clinical Anatomy

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The complex anatomy of the aortic root is of great importance for many surgical and transcatheter cardiac procedures. Therefore, the aim of this study was to provide a comprehensive morphological description of the nondiseased aortic root. We morphometrically examined 200 autopsied human adult hearts (22.0% females, 47.9 ± 17.7 years). A meticulous macroscopic analysis of aortic root anatomy was performed. The largest cross‐section area of the aortic root was observed in coaptation center plane (653.9 ± 196.5 mm2), followed by tubular plane (427.7 ± 168.0 mm2) and basal ring (362.7 ± 159.1 mm2) (p < 0.001). The right coronary sinus was the largest (area: 234.3 ± 85.0 mm2), followed by noncoronary sinus (218.7 ± 74.8 mm2) and left coronary sinus (201.2 ± 78.08 mm2). The noncoronary sinus was the deepest, followed by right and left coronary sinus (16.4 ± 3.2 vs. 15.9 ± 3.1 vs. 14.9 ± 2.9 mm, p < 0.001). In 68.5% of hearts, the coaptation center was located near the aortic geometric center. The left coronary ostium was located 15.6 ± 3.8 mm above sinus bottom (within the sinus in 91.5% and above sinutubular junction in 8.5%), while for right coronary ostium, it was 16.2 ± 3.5 mm above (83.5% within sinus and 16.5% above). In general, males exhibited larger aortic valve dimensions than females. A multiple forward stepwise regression model showed that anthropometric variables might predict the size of coaptation center plane (age, sex, and heart weight; R2 = 31.8%), tubular plane (age and sex; R2 = 25.6%), and basal ring (age and sex; R2 = 16.9%). In conclusion, this study presents a comprehensive analysis of aortic‐root morphometry and provides a platform for further research into the intricate interplay between structure and function of the aortic root.

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Expert Consensus Statement: Anatomy, Imaging, and Nomenclature of Congenital Aortic Root Malformations

Cited by 12 publications

References 48 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

Blood Speckle Imaging: An Emerging Method for Perioperative Evaluation of Subaortic and Aortic Valvar Repair

Aortic root morphometry revisited—Clinical implications for aortic valve interventions

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