Abstract 18498: Description of Aortic Root Growth and Outcomes in a Cohort of Pediatric Patients with Loeys-Dietz Syndrome

Circulation ◽  
2014 ◽  
Vol 130 (suppl_2) ◽  
Author(s):  
Nitya Viswanathan ◽  
Shaine A Morris
Keyword(s):  
Aortic Dissection ◽  
Root Growth ◽  
Aortic Root ◽  
Aortic Surgery ◽  
Genetic Mutation ◽  
Root Diameter ◽  
Adverse Outcomes ◽  
Rate Of Change ◽  
Z Score ◽  
Repeat Surgery

Background: Loeys Dietz Syndrome (LDS) is associated with rapid aortic dilation and aortic dissection, but data on children with LDS are limited. The goal of this study is to describe aortic root growth and outcomes in children with LDS. Methods: Patients with LDS were identified from an institutional database. Data regarding genetic mutation, medications, aortic root dimensions by transthoracic echocardiography (TTE), aortic dissection and surgical intervention were collected. For those with >2 TTEs 1 year apart, rate of change in z-score was calculated using linear regression. TTEs performed after aortic surgery were excluded. We examined if variables were associated with rate of aortic root growth. Results: Of 16 patients, 8 were female. Five had a TGFBR1 and 9 had a TGFBR2 mutation; 2 patients did not have genetic data available. Median aortic root Z-score at diagnosis was 3.5 (range 0.5-25.4). Fifteen patients were on medication (2 beta-blocker (BB), 5 angiotensin receptor blocker (ARB), 5 BB+ARB, and 3 with past use of both). Four patients underwent prophylactic root replacement at ages 3.3, 6.7, 8.7, and 9.4 years at root dimensions 3.2, 6.5, 4.0, and 4.1 cm respectively. One patient had a Type A dissection at age 15y after prior root replacement and underwent repeat surgery. Another underwent heart transplant at 6.9 years old after prior root replacement. Ten patients had serial TTE data. Median change in aortic root diameter and Z-score was 0.11cm/year and 0.1/year respectively. Mean change in z-score per year for those on on BB was -0.1± (range -1.2 to 0.7), ARB 0.5 (range 0.1 to 1.1) and both 0.0 (range -0.2 to 0.2, p=NS). No variables studied were associated with faster aortic growth. Conclusions: Degree of aortic root dilation and rate of aortic root growth is highly variable in children with LDS, although factors associated more aggressive disease are unclear. The high proportion of patients with adverse outcomes including aortic dissection and surgery is concerning.

Abstract 18473: Rates and Risk Factors for Faster Aortic Root Growth in Pediatric Patients with Marfan Syndrome

Circulation ◽  
2014 ◽  
Vol 130 (suppl_2) ◽  
Author(s):  
Nitya Viswanathan ◽  
Claudia Pedroza ◽  
Shaine A Morris
Keyword(s):  
Aortic Dissection ◽  
Root Growth ◽  
Marfan Syndrome ◽  
Aortic Root ◽  
Scoliosis Surgery ◽  
Z Score ◽  
Aortic Dilation ◽  
Significant Difference ◽  
Over Time ◽  
Infantile Type

Background: Marfan Syndrome (MS) is associated with progressive aortic dilation and aortic dissection. Aortic dissection is typically preceded by aortic dilation. The goal of this study is to identify factors associated with faster rates of aortic root dilation in children with MS. Methods: Patients undergoing serial transthoracic echocardiograms (TTE) with MS were retrospectively identified from an institutional database. Those with >2 TTEs over 1 year apart and <21 years of age at first TTE were included. TTEs performed after aortic surgery were excluded. Using multivariable longitudinal linear regression analysis, sex, medication, presence of ectopia lentis, need for scoliosis surgery and infantile type of MS were evaluated for associations with rate of change in aortic root dimension and aortic root z-score over time. Results: Of 240 patients with MS, 146 were included. Median age at first TTE was 8.1 yrs (range 0-20.9 years), median length of follow up 6.5 years (range 1.0-20.1 years), and median number of studies was 8 (range 2-25). Sixty-one percent were male. Of the 146 patients, 123 (84%) were documented to be on medical therapy: 14 angiotensin receptor blocker (ARB), 66 B-Blocker (BB), 10 prior history of both, 5 BB+ARB, 27 were in the Pediatric Heart Network medication trial, 1 ACE inhibitor. Sixteen patients underwent root replacement surgery at a median age of 14.6 years (range 1.8-24). No patients had aortic dissection. Three patients had infantile MS. All of these patients underwent root replacement at 1.8, 2 and 4 years of age. Two underwent subsequent aortic root replacement at 6 and 8 years old. Mean rate of aortic root growth in the cohort was 0.12cm/year, and mean change in z-score was 0.02/year (p=0.23 compared to expected rate of no change). The only variable associated with faster root growth was infantile MS (1.3cm/year, p<0.001; z-score change of 6.9/year, p<0.001). There was no significant difference in the rate of aortic root growth between patients who received therapy with BB vs. ARB vs. BB+ARB. Conclusions: Children with MS did not have a significant change in aortic root z-score over time, and the only factor associated with more rapid aortic root growth was infantile type MS.

Bentall–de Bono procedure for acute aortic dissection

2021 ◽  
Keyword(s):  
Aortic Dissection ◽  
Aortic Root ◽  
Acute Aortic Dissection ◽  
Aortic Surgery ◽  
Acute Type ◽  
Aortic Diseases ◽  
Type A Aortic Dissection ◽  
Aortic Replacement ◽  
Ascending Aortic Replacement ◽  
Valve Sparing

We present a patient with an acute type A aortic dissection that involves the aortic root. The high mortality of patients with this condition is often associated with operations performed by surgeons with minimal experience dealing with aortic diseases. Therefore, less-experienced surgeons often opt for less complicated techniques like supracoronary ascending aortic replacement. However, according to the latest guidelines for the management of aortic diseases, the aortic root should be replaced when it is compromised by the dissection. The Bentall–de Bono technique treats the aortic root and demands less experience than valve-sparing aortic surgery.

scholarly journals Pregnancy-Related Aortic Aneurysm and Dissection in Patients With Marfan’s Syndrome: Medical and Surgical Management During Pregnancy and After Delivery

Medicina ◽  
2011 ◽  
Vol 47 (11) ◽  
pp. 87 ◽  
Author(s):  
Mile Vranes ◽  
Milos Velinovic ◽  
Natasa Kovacevic-Kostic ◽  
Dragutin Savic ◽  
Dejan Nikolic ◽  
...  
Keyword(s):  
Risk Factor ◽  
Aortic Aneurysm ◽  
Aortic Dissection ◽  
Aortic Root ◽  
Root Diameter ◽  
Marfan’S Syndrome ◽  
Marfan's Syndrome ◽  
Before And After ◽  
Aortic Aneurysm And Dissection ◽  
Current Article

In the current article, 3 cases of aortic aneurysm and dissection in pregnant patients with Marfan’s syndrome are reported. It is well known that pregnancy is a risk factor for the development of aortic aneurysm and dissection in women with Marfan’s syndrome since it is shown that dissection can develop both before and after labor. Marfan patients with an aortic root diameter greater than 4 cm should undergo preconceptual counseling for surgical aortic repair before pregnancy. Pregnant Marfan patients with an aortic aneurysm should be closely and continuously evaluated by multidisciplinary specialists in order to prevent possible aortic dissection that could be fatal for both the mother and the fetus.

scholarly journals Pregnancy after Aortic Root Replacement in Marfan's Syndrome: A Case Series and Review of the Literature

2018 ◽  
Vol 08 (04) ◽  
pp. e234-e240 ◽  
Author(s):  
Dominique Williams ◽  
Kathryn Lindley ◽  
Melissa Russo ◽  
Jennifer Habashi ◽  
Harry Dietz ◽  
...  
Keyword(s):  
Literature Review ◽  
Aortic Dissection ◽  
Aortic Root ◽  
Aortic Surgery ◽  
Tertiary Care ◽  
Case Series ◽  
Aortic Root Replacement ◽  
Marfan’S Syndrome ◽  
Marfan's Syndrome ◽  
Case Series Study

Objectives We sought to characterize pregnancy-related aortic complications in women with Marfan's syndrome who had prior aortic root replacement. Study Design This is a retrospective case series study and literature review of women with Marfan's syndrome with pregnancy after aortic root replacement. We surveyed women with Marfan's syndrome who had successful pregnancy after aortic root replacement using the Marfan Foundation Website and from two large tertiary care Marfan's clinics. Clinical data, counseling information, and details of pregnancy-related aortic complications were compiled. A literature review was performed assessing aortic outcomes in women with Marfan's syndrome with pregnancy after aortic surgery. Results Fourteen women with 20 pregnancies were identified. Two women had three pregnancies following root replacement for aortic dissection. There were no aortic dissections during the 20 pregnancies. In contrast, aortic dissection was frequently reported in the literature. Conclusions Women with Marfan's syndrome who become pregnant following aortic root replacement remain at risk for distal aortic dissection related to pregnancy. The exact risk is difficult to quantify but is not zero and women should be counseled accordingly.

scholarly journals Aortic Root Dilatation in Taiwanese Patients with Mucopolysaccharidoses and the Long-Term Effects of Enzyme Replacement Therapy

Diagnostics ◽  
2020 ◽  
Vol 11 (1) ◽  
pp. 16
Author(s):  
Hsiang-Yu Lin ◽  
Ming-Ren Chen ◽  
Chung-Lin Lee ◽  
Shan-Miao Lin ◽  
Chung-Lieh Hung ◽  
...  
Keyword(s):  
Aortic Root ◽  
Root Diameter ◽  
Z Score ◽  
Long Term Effects ◽  
Enzyme Replacement ◽  
Mps Ii ◽  
Mps Vi ◽  
Aortic Root Dilatation ◽  
Mps I ◽  
Mps Iii

Background: Cardiovascular abnormalities have been observed in patients with mucopolysaccharidosis (MPS) of any type, with the most documented abnormalities being valvular regurgitation and stenosis and cardiac hypertrophy. Only a few studies have focused on aortic root dilatation and the long-term effects of enzyme replacement therapy (ERT) in these patients. Methods: We reviewed echocardiograms of 125 Taiwanese MPS patients (age range, 0.1 to 19.1 years; 11 with MPS I, 49 with MPS II, 25 with MPS III, 29 with MPS IVA, and 11 with MPS VI). The aortic root diameter was measured at the sinus of Valsalva. Results: Aortic root dilatation (z score >2) was observed in 47% of the MPS patients, including 66% of MPS IV, 51% of MPS II, 45% of MPS VI, 28% of MPS III, and 27% of MPS I patients. The mean aortic root diameter z score was 2.14 (n = 125). The patients with MPS IV had the most severe aortic root dilatation with a mean aortic root diameter z score of 3.03, followed by MPS II (2.12), MPS VI (2.06), MPS III (1.68), and MPS I (1.03). The aortic root diameter z score was positively correlated with increasing age (n = 125, p < 0.01). For the patients with MPS II, III, and IV, aortic root diameter z score was also positively correlated with increasing age (p < 0.01). For 16 patients who had received ERT and had follow-up echocardiographic data (range 2.0–16.2 years), the mean aortic root diameter z score change was −0.46 compared to baseline (baseline 2.49 versus follow-up 2.03, p = 0.490). Conclusions: Aortic root dilatation was common in the patients with all types of MPS, with the most severe aortic root dilatation observed in those with MPS IV. The severity of aortic root dilatation worsened with increasing age, reinforcing the concept of the progressive nature of this disease. ERT for MPS appears to stabilize the progression of aortic root dilatation.

6128Losartan vs Nebivolol vs the association of both on the progression of aortic root dilation in genotyped Marfan Syndrome: 48 months open label randomized controlled phase III trial

2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
A Di Toro ◽  
C Klersy ◽  
L Giuliani ◽  
A Serio ◽  
E Disabella ◽  
...  
Keyword(s):  
Aortic Root ◽  
Combined Treatment ◽  
Root Diameter ◽  
Phase Iii ◽  
Z Score ◽  
Open Label ◽  
Aortic Root Aneurysm ◽  
Group A ◽  
Group B

Abstract Background Marfan Syndrome (MFS) is a rare multisystemic genetic disease caused by mutations in the Fibrillin 1 (FBN1) gene. Aortic root aneurysm, potentially evolving to dissection and rupture, is the most important clinical complication. Beta blockers (BB) and Angiotensin II receptor blockers (ARB), these latter exerting an anti-TGFbeta1 effect, are current cornerstones of medical therapy in patients diagnosed with MFS and presenting aortic root aneurysm. The study aimed at comparing the effect of single drug (nebivolol and losartan) vs. the combination of both (losartan + nebivolol) in limiting the progression of the growth of the aortic root diameter (ARD) in FBN1 genotyped patients with aortic root aneurysm (z-score>2), who had not undergone prior aortic surgery. Methods We designed a controlled, open-label, single-blinded, 1:1:1 randomized, phase III single-centre study [NCT00683124]. Calculated sample size was 291 (power 90%, type I error 5%, 20% attrition, expected dropout 20%). ARD data collection was performed with annual 2D-transthoracic echocardiograms for four years. ARDs were measured with 2D-transthoracic echocardiogram as absolute values, aortic root ratio (ARR), and z-score. The primary endpoint was the modification of ARD z-score at 48 months. The analysis of the primary endpoint aimed at showing differences of ARD z-score comparing: – The combined treatment arm (group A). – The group aggregating both single treatment arms (group B). – The nebivolol arm (group C). – The losartan arm (group D). Results We enrolled 262 patients (126 adults, aged 17–55, and 136 children, aged 1–16); 236/262 (22 dropout; 4 lost at follow-up) completed the planned follow-up: 81 in the group A, 79 in the BB in the group C and 76 in the group D. No patient developed acute aortic dissection. Both drugs administered either individually or in combination were well tolerated without evidence of side effects. At 48 months, the ARD Z-score decreased from baseline to end-follow-up in all treatment arms. The decrease was significantly higher in the combined treatment arm (A) than in the single treatment aggregated arm (group B) with a difference in ARD z-score change of 0.17 (p=0.009) in the combined arm (A). Similarly, the decrease of z-score was inferior in the nebivolol arm and in the losartan arm than in the combined arm (by 0.16, p=0.032, and by 0.18, p=0.019, respectively). After Bonferroni correction for these post-hoc comparisons only the decrease of z-score in the losartan arm remained significantly inferior (p<0.025). Conclusions This study shows that the current cornerstones of medical therapy in MFS (ARB and BB) are effective in limiting the progression of the growth of the aortic root diameter: their combination exploits a synergistic effect. The combined administration of BB and ARB in patients with aortic root aneurysm is a sustainable, well tolerated treatment that effectively limits the rate of progression of aortic root dilation. Acknowledgement/Funding The financial support of Telethon, Italy (Grant no. GGP08238) is gratefully acknowledged.The drugs are a gift of Menarini and MSD

Proximal aorta longitudinal strain predicts aortic root dilation rate and aortic events in Marfan syndrome

2019 ◽  
Vol 40 (25) ◽  
pp. 2047-2055 ◽  
Author(s):  
Andrea Guala ◽  
Gisela Teixidó-Tura ◽  
Jose Rodríguez-Palomares ◽  
Aroa Ruiz-Muñoz ◽  
Lydia Dux-Santoy ◽  
...  
Keyword(s):  
Growth Rate ◽  
Aortic Dissection ◽  
Marfan Syndrome ◽  
Aortic Root ◽  
Longitudinal Strain ◽  
Circumferential Strain ◽  
Root Diameter ◽  
Demographic Characteristics ◽  
Dilation Rate

Abstract Aims Life expectancy in Marfan syndrome patients has improved thanks to the early detection of aortic dilation and prophylactic aortic root surgery. Current international clinical guidelines support the use of aortic root diameter as a predictor of complications. However, other imaging markers are needed to improve risk stratification. This study aim to ascertain whether proximal aorta longitudinal and circumferential strain and distensibility assessed by cardiac magnetic resonance (CMR) predict the aortic root dilation rate and aortic events in Marfan syndrome. Methods and results One hundred and seventeen Marfan patients with no previous aortic dissection, cardiac/aortic surgery, or moderate/severe aortic regurgitation were prospectively included in a multicentre protocol of clinical and imaging follow-up. At baseline, CMR was performed and proximal aorta longitudinal strain and ascending aorta circumferential strain and distensibility were obtained. During follow-up (85.7 [75.0–93.2] months), the annual growth rate of aortic root diameter was 0.62 ± 0.65 mm/year. Fifteen patients underwent elective surgical aortic root replacement and four presented aortic dissection. Once corrected for baseline clinical and demographic characteristics and aortic root diameter, proximal aorta longitudinal strain, but not circumferential strain and distensibility, was an independent predictor of the aortic root diameter growth rate (P = 0.001, P = 0.823, and P = 0.997, respectively), z-score growth rate (P = 0.013, P = 0.672, and P = 0.680, respectively), and aortic events (P = 0.023, P = 0.096, and P = 0.237, respectively). Conclusion Proximal aorta longitudinal strain is independently related to the aortic root dilation rate and aortic events in addition to aortic root diameter, clinical risk factors, and demographic characteristics in Marfan syndrome patients.

scholarly journals Transcatheter Closure of Anastomotic Leakage of Aortic Root after Aortic Surgery for Type A Dissection: Two Case Reports

2021 ◽  
Author(s):  
Lin Song ◽  
Yiran Zhang ◽  
Binyu Zhou ◽  
Xiaozhou Zheng ◽  
Peixuan Shi ◽  
...  
Keyword(s):  
Aortic Dissection ◽  
Anastomotic Leakage ◽  
Aortic Root ◽  
Transcatheter Closure ◽  
Case Reports ◽  
Aortic Surgery ◽  
Clinical Manifestations ◽  
Early Detection Of Disease ◽  
Type A Dissection ◽  
Early Effects

Abstract Background: Anastomotic leakage of postoperative aortic dissection is an intractable complication with different clinical manifestations. It is important to detect and manage anastomotic leakage in a timely manner. This case report describes 2 patients who were admitted to the hospital with different clinical manifestations and were diagnosed with aortic root anastomotic leakage through imaging. Both patients received transcatheter closure treatment with definite early effects.Case presentation: Two middle-aged women with aortic root anastomotic leakage who were admitted with different clinical manifestations and received transcatheter closure.Conclusion: Paying attention to the clinical manifestations and imaging diagnosis of patients after aortic dissection surgery is important for early detection of disease progression. Transcatheter closure can be used as an alternative treatment who cannot tolerate secondary thoracotomy due to its small trauma and exact efficacy in the near and medium terms, but further follow-up is needed for long-term clinical outcomes.

scholarly journals Aortic root longitudinal strain by speckle-tracking echocardiography predicts progressive aortic root dilation in Marfan syndrome patients

2021 ◽  
Vol 22 (Supplement_1) ◽  
Author(s):  
A Guala ◽  
MI Pons ◽  
A Ruiz-Munoz ◽  
L Dux-Santoy ◽  
L Madrenas ◽  
...  
Keyword(s):  
Marfan Syndrome ◽  
Aortic Root ◽  
Speckle Tracking ◽  
Longitudinal Strain ◽  
Speckle Tracking Echocardiography ◽  
Aortic Surgery ◽  
Root Diameter ◽  
Aortic Diseases ◽  
Severe Aortic Regurgitation

Abstract Funding Acknowledgements Type of funding sources: Public grant(s) – National budget only. Main funding source(s): Spanish Ministry of Science, Innovation and Universities; Instituto de Salud Carlos III Introduction In Marfan syndrome (MFS) patients reduced longitudinal strain of the ascending aorta (AAo) as measured by applying feature-tracking on cine cardiac magnetic resonance (CMR) images predicts aortic root dilation and aortic events during the follow-up. Speckle-tracking is well established for cardiac deformation assessment but proximal aorta applications are challenging due to limited wall thickness and substantial cardiac motion. Moreover, echocardiography is widely used in the clinical assessment aortic diseases. Purpose We aimed to test a speckle-tracking tool for root longitudinal strain analysis in terms of comparison with CMR-derived AAo longitudinal strain and reproducibility and as predictor of dilation in MFS patients. Methods Thirty-five MFS patients diagnosed by original GHENT criteria, with maximum aortic root diameter of 45 mm and free from previous aortic dissection or cardiac/aortic surgery and non-severe aortic regurgitation were consecutive enrolled and followed-up. CMR and echocardiography were performed less than 2 months apart. Baseline and final aortic root diameter were measured on CMR images. To quantify aortic root cyclic elongation by echocardiography, two regions of interests were manually created covering both walls in a parasternal long-axis view and tracked along the cardiac cycle (Figure 1). Longitudinal strain was computed as the average of maximum increase in relative distance of several sub-regions covering both walls. CMR-derived AAo longitudinal strain was available in 29 patients. Intra-observer reproducibility was tested in 15 patients via intraclass correlation coefficient (ICC) for single-rater absolute agreement. Results Aortic root longitudinal strain by echocardiography was mildly related to CMR-derived AAo longitudinal strain (R = 0.27) and was larger compared to CMR-derived values (16.2 ± 6.0 vs 11.3 ± 4.3). Reproducibility was high, with ICC of 0.811, R = 0.802, p &lt; 0.001. After a mean follow up of 76 ± 13 months, aortic root diameter grew in 20 patients with a rate of 0.29± 0.24 mm/year. Overall mean growth-rate was 0.87 ± 0.33 mm/year. In multivariable analysis corrected for age and baseline aortic root diameter, baseline longitudinal strain by echocardiography was independently and inversely related to progressive dilation (p = 0.033). Conclusions The measurement of aortic root longitudinal strain by speckle-tracking echocardiography is feasible. Aortic root longitudinal strain is an independent predictor of progressive dilation in MFS patients. This may permit the improvement of risk-stratification in aortic diseases in large scale studies. Abstract Figure 1

Comparability of different Z-score equations for aortic root dimensions in children with Marfan syndrome

2021 ◽  
pp. 1-7
Author(s):  
Dominiek W.E. Rutten ◽  
Ilse J.H. Aarts-Janssen ◽  
Marlies J.E. Kempers ◽  
Annette G. Reimer ◽  
Floris E.A. Udink ten Cate ◽  
...  
Keyword(s):  
Marfan Syndrome ◽  
Aortic Root ◽  
Major Complication ◽  
Root Diameter ◽  
Z Score ◽  
Sinus Of Valsalva ◽  
Aortic Dilation ◽  
Z Scores ◽  
The Mean ◽  
Mean Differences

Abstract 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 root Z-scores were obtained in a cohort of paediatric Marfan patients using several published nomograms. Methods: In a cohort of 100 children with Marfan syndrome, Z-scores for aortic root dimensions were calculated according to the nomograms of Pettersen et al, Gautier et al, Colan et al, and Lopez et al. Bland–Altman plots were used to estimate mean differences in Z-scores and to establish limits of agreement. Results: The mean Z-score of the sinus of Valsalva for Lopez et al was significantly higher compared to Gautier et al (p < 0.01) and Pettersen et al (p = 0.03). The nomogram of Lopez et al resulted in substantially higher Z-scores in patients with a large sinus of Valsalva diameter. Thirty-five percentage of the studied patients would have a Z-score ≥ 2 using Lopez et al compared to 20% for Pettersen et al, 21% for Gautier et al, and 33% for Colan et al. Conclusion: The currently available nomograms for calculating Z-scores of aortic dilation in children with Marfan syndrome lead to clinically relevant differences in Z-scores, especially in children with a relative large aortic root diameter. This could have impact on both the diagnosis and treatment of patients with Marfan syndrome.

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