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Aortic root dilation in a patient with Marfan syndrome. Ao = aorta; LA = left atrium; LV = left ventricle; RV = right ventricle.
Source publication
Background
Aortic root dilation is a major complication of Marfan syndrome and is one of the most important criteria in establishing the diagnosis. Currently, different echocardiographic nomograms are used to calculate aortic root Z-scores. The aim of the present study was to assess the potential differences in aortic root measurements when aortic...
Contexts in source publication
Context 1
... dilation is usually located at the sinus of Valsalva in patients with Marfan syndrome (Fig 1). This typical location is partly a result of the ectodermal origin of the aortic root 3 and the high pressures generated by the left ventricle. ...
Citations
... 41 Different sets of z-scores will yield different results, depending upon the population from which they were sampled. 42 The Lopez echocardiographic z-scores from the Pediatric Heart Network Normal Echocardiogram Database from North America Figure 3. Aortic diameters in mm and as z-scores in 97 children and young people with ADPKD stratified by cyst burden and compared with healthy controls. ADPKD, autosomal dominant polycystic kidney disease; AoV, aortic valve annulus; AsAo, ascending aorta; SBP, systolic blood pressure; SoV, sinuses of Valsalva; STJ, sinotubular junction Data shown as marginal means after adjustment for age, sex (male or female), and SBP z-score. ...
Introduction
Aortic root dilatation is a reported cardiovascular sequela seen in children and young people (CYP) with chronic kidney disease (CKD) but has yet to be described in those with autosomal dominant polycystic kidney disease (ADPKD).
Methods
Single center, cross-sectional study in a dedicated ADPKD clinic. Echocardiograms were evaluated for the presence of dilatation (defined by a z-score ≥2 [≥99th percentile] SDs from the mean) at 4 standardized locations, namely the aortic valve annulus, sinuses of Valsalva (SoV), sinotubular junction (STJ), and the ascending aorta. Measurements were compared with a control group to assess prevalence, severity, and determinants of aortic dilatation.
Results
Ninety-seven children, median age (interquartile range) of 9.3 (6.1, 13.6) years were compared with 19 controls without ADPKD or other CKD. The prevalence of dilatation ranged from 5.2% to 17% in ADPKD, depending on anatomical location with no aortic dilatation identified in the control group. In multivariable regression, aortic root dilatation was significantly associated with cyst burden at the aortic valve annulus and SoV (β = 0.42 and β = 0.39, both P < 0.001), with age at SoV (β = -0.26, P = 0.02), systolic blood pressure (SBP) z-score at SoV (β = -0.20, P = 0.04) and left ventricular mass index (LVMI) at SoV and STJ (β = 0.24, P = 0.02 and β = 0.25, P = 0.03, respectively) following adjustment for age, sex (male or female), body mass index (BMI) z-score, estimated glomerular filtration rate (eGFR), SBP z-score, and LVMI.
Conclusion
Our data suggests increased prevalence of aortic root and ascending aortic dilatation in CYP with ADPKD compared with controls. Further studies are needed to understand the pathogenesis and its contribution to the high cardiovascular morbidity in ADPKD.
... However, the nomograms chosen (indexed by sex and BSA) may influence the result, especially for milder degrees of dilation. Namely, referring to a different pediatric population with Marfan Syndrome (MS), significant differences were reported by Rutten et al. [29] when aortic measurements were performed according to different Z-scores. As a threshold of Z-score > 2 represents major criteria for the diagnosis of AoD in MS, the use of different nomograms can have a significant diagnostic impact [29]. ...
... Namely, referring to a different pediatric population with Marfan Syndrome (MS), significant differences were reported by Rutten et al. [29] when aortic measurements were performed according to different Z-scores. As a threshold of Z-score > 2 represents major criteria for the diagnosis of AoD in MS, the use of different nomograms can have a significant diagnostic impact [29]. Therefore, the definition of "normalcy" and the availability of appropriate tools to assess normalcy is of paramount importance in pediatric age. ...
Background:
Aortic dilation (AoD) is commonly reported in patients with bicuspid aortic valve (BAV) and has been related to flow abnormalities and genetic predisposition. AoD-related complications are reported to be extremely rare in children. Conversely, an overestimate of AoD related to body size may lead to excess diagnoses and negatively impact quality of life and an active lifestyle. In the present study, we compared the diagnosis performance of the newly introduced Q-score (based on a machine-learning algorithm) versus the traditional Z-score in a large consecutive pediatric cohort with BAV.
Materials and methods:
Prevalence and progression of AoD were evaluated in 281 pediatric patients ages > 5 and < 18 years at first observation, 249 of whom had isolated BAV and 32 had BAV associated with aortic coarctation (CoA-BAV). An additional group of 24 pediatric patients with isolated CoA was considered. Measurements were made at the level of the aortic annulus, Valsalva sinuses, sinotubular aorta, and proximal ascending aorta. Both Z-scores using traditional nomograms and the new Q-score were calculated at baseline and at followup (mean 4.5 years).
Results:
A dilation of the proximal ascending aorta was suggested by traditional nomograms (Z-score > 2) in 31.2% of patients with isolated BAV and 18.5% with CoA-BAV at baseline and in 40.7% and 33.3%, respectively, at followup. No significant dilation was found in patients with isolated CoA. Using the new Q-score calculator, ascending aorta dilation was detected in 15.4% of patients with BAV and 18.5% with CoA-BAV at baseline and in 15.8% and 3.7%, respectively, at followup. AoD was significantly related to the presence and degree of aortic stenosis (AS) but not to aortic regurgitation (AR). No AoD-related complications occurred during the followup.
Conclusions:
Our data confirm the presence of ascending aorta dilation in a consistent subgroup of pediatric patients with isolated BAV, with progression during followup, while AoD was less common when CoA was associated with BAV. A positive correlation was found with the prevalence and degree of AS, but not with AR. Finally, the nomograms used may significantly influence the prevalence of AoD, especially in children, with a possible overestimation by traditional nomograms. This concept requires prospective validation in long-term followup.
... Given that statistically only 2.3% of the general population is expected to have a zscore above 2 (and only 0.13% of the population a z-score above 3), a higher aortic z-score signifies a higher probability of an aortic abnormality that calls for further assessment. Different nomograms measuring the aorta from leading edge to leading edge (Campens et al., 2014;Devereux et al., 2012;Gautier et al., 2010;Roman et al., 1989;Rutten et al., 2021), or using an inner-to-inner diameter (Cantinotti et al., 2017;Lopez et al., 2010;Pettersen et al., 2008) have been proposed over the years. To avoid over-or underestimation of the z-score, the nomogram used for interpretation should match the method used for measurement. ...
Heritable thoracic aortic diseases (HTAD) are rare pathologies associated with thoracic aortic aneurysms and dissection, which can be syndromic or non-syndromic. They may result from genetic defects. Associated genes identified to date are classified into those encoding components of the (a) extracellular matrix (b) TGFβ pathway and (c) smooth muscle contractile mechanism. Timely diagnosis allows for prompt aortic surveillance and prophylactic surgery, hence improving life expectancy and reducing maternal complications as well as providing reassurance to family members when a diagnosis is ruled out. This document is an expert opinion reflecting strategies put forward by medical experts and patient representatives involved in the HTAD Rare Disease Working Group of VASCERN. It aims to provide a patient pathway that improves patient care by diminishing time to diagnosis, facilitating the establishment of a correct diagnosis using molecular genetics when possible, excluding the diagnosis in unaffected persons through appropriate family screening and avoiding overuse of resources. It is being recommended that patients are referred to an expert centre for further evaluation if they meet at least one of the following criteria: (1) thoracic aortic dissection (<70 years if hypertensive; all ages if non-hypertensive), (2) thoracic aortic aneurysm (all adults with Z score >3.5 or 2.5–3.5 if non-hypertensive or hypertensive and <60 years; all children with Z score >3), (3) family history of HTAD with/without a pathogenic variant in a gene linked to HTAD, (4) ectopia lentis without other obvious explanation and (5) a systemic score of >5 in adults and >3 in children. Aortic imaging primarily relies on transthoracic echocardiography with magnetic resonance imaging or computed tomography as needed. Genetic testing should be considered in those with a high suspicion of underlying genetic aortopathy. Though panels vary among centers, for patients with thoracic aortic aneurysm or dissection or systemic features these should include genes with a definitive or strong association to HTAD. Genetic cascade screening and serial aortic imaging should be considered for family screening and follow-up. In conclusion, the implementation of these strategies should help standardise the diagnostic work-up and follow-up of patients with suspected HTAD and the screening of their relatives.
... Last, disease-specific z-scores do exist for Turner syndrome and should be applied as decided upon by each institution [48,49]. Depending on the disease, these values could be used to decide when surgery is needed [50,51]. ...
Because the aorta is the major vessel of the body, basic knowledge of aortic pathology is essential to the pediatric imager. This review divides aortic pathology into anatomical (e.g., congenital abnormalities) and acquired (e.g., vasculitis, trauma) entities, providing a brief description of pathology, technical considerations in CT acquisition and processing, and some pearls and pitfalls of interpretation. The objective of this paper is to familiarize general pediatric imagers with imaging features of common as well as high-impact aortic pathology on CT and prepare them for acquisition and reporting.
Marfan syndrome (MIM: # 154700; MFS) is an autosomal dominant disease representing the most common form of heritable connective tissue disorder. The condition presents variable multiorgan expression, typically involving a triad of cardiovascular, eye, and skeletal manifestations. Other multisystemic features are often underdiagnosed. Moreover, the disease is characterized by age related penetrance. Diagnosis and management of MFS in the adult population are well-described in literature. Few studies are focused on MFS in the pediatric population, making the clinical approach (cardiac and multiorgan) to these cases challenging both in terms of diagnosis and serial follow-up. In this review, we provide an overview of MFS manifestations in children, with extensive revision of major organ involvement (cardiovascular ocular and skeletal). We attempt to shed light on minor aspects of MFS that can have a significant progressive impact on the health of affected children. MFS is an example of a syndrome where an early personalized approach to address a dynamic, genetically determined condition can make a difference in outcome. Applying an early multidisciplinary clinical approach to MFS cases can prevent acute and chronic complications, offer tailored management, and improve the quality of life of patients.
Marfan syndrome (MFS) is an autosomal dominant, age-related but highly penetrant condition with substantial intrafamilial and interfamilial variability. MFS is caused by pathogenetic variants in FBN1, which encodes fibrillin-1, a major structural component of the extracellular matrix that provides support to connective tissues, particularly in arteries, the pericondrium and structures in the eye. Up to 25% of individuals with MFS have de novo variants. The most prominent manifestations of MFS are asymptomatic aortic root aneurysms, aortic dissections, dislocation of the ocular lens (ectopia lentis) and skeletal abnormalities that are characterized by overgrowth of the long bones. MFS is diagnosed based on the Ghent II nosology; genetic testing confirming the presence of a FBN1 pathogenetic variant is not always required for diagnosis but can help distinguish MFS from other heritable thoracic aortic disease syndromes that can present with skeletal features similar to those in MFS. Untreated aortic root aneurysms can progress to life-threatening acute aortic dissections. Management of MFS requires medical therapy to slow the rate of growth of aneurysms and decrease the risk of dissection. Routine surveillance with imaging techniques such as transthoracic echocardiography, CT or MRI is necessary to monitor aneurysm growth and determine when to perform prophylactic repair surgery to prevent an acute aortic dissection.
