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BACKGROUND Obstructive sleep apnea (OSA) is a risk factor of several cardiovascular diseases. We investigated the association between aortic root diameter and hypoxia-related parameters in hypertensive patients with OSA. METHODS Our study included 242 hypertensive patients with OSA (52 mild, 71 moderate, and 119 severe). All the patients underwent echocardiography for measuring aortic root diameter and polysomnography for measuring apnea–hypopnea index (AHI), oxygen desaturation index, and time spent with oxygen desaturation less than 90%. RESULTS The study patients included 19.8% women and had a mean (±SD) age of 49.9 ± 12.9 years, a mean aortic root diameter of 33.4 ± 2.6 mm, and a prevalence of echocardiographic aortic root dilation of 3.7%. Patients with mild, moderate, and severe OSA had similar echocardiographic left ventricular structure. However, patients with severe OSA had a significantly (P < 0.05) greater aortic root diameter (33.9 ± 2.4 mm vs. 32.4 ± 2.2 and 33.4 ± 2.9 mm, respectively) and higher prevalence of aortic root dilatation (5% vs. 1% and 3%, respectively) than those with mild and moderate OSA. Aortic root diameter corrected by body height was significantly (P < 0.001) associated with AHI, oxygen desaturation index and time spent with oxygen desaturation less than 90% (r = 0.23–0.33). After adjustment for various confounding factors, the associations between aortic root diameter and polysomnography parameters remained statistically significant (P < 0.05). CONCLUSIONS The severity of OSA was associated with the aortic root diameter. Patients with severe OSA had a greater aortic root diameter.

Aortic root dilation (ARD) has been reported in patients with 22q11.2 deletion syndrome (22q11.2DS) with and without congenital heart defects (CHDs). However, the long-term implications of isolated ARD in 22q11.2DS remain undefined. In this study, we measured aortic root size and estimated the probability of changing between normal aortic root size and ARD during follow up to understand the prevalence, longitudinal course, and clinical risk factors for ARD in patients with 22q11.2DS without intracardiac CHDs. Aortic root size was measured in 251 patients with 432 studies. Forty-one patients (16.3%) had ARD on at least one echocardiogram and the cohort sinus Z-score was increased on the last echocardiogram [mean (1.09, SD 1.24) and median (1.20, min − 1.90 and max 5.40)]. Transition probability analysis showed that 8.1% of patients developed ARD and 45.4% of patients with ARD reverted to normal at the next echocardiogram. The risk of ARD over time was significantly associated with male sex (OR 3.06, 95% CI 1.41–6.65; p = 0.004), but not with age or presence of an aortic arch anomaly. Compared to a sinus Z-score ≥ 2, initial Z-score 4, and patients with initial Z-scores

We treated a man with co-incident Marfan-like connective tissue disease with morphologic left ventricular non-compaction (LVNC). He underwent valve-sparing aortic root replacement because of aortic root dilation at 43 years old. Pathological findings of the aorta revealed cystic medio-necrosis, consistent with Marfan syndrome. He developed congestive heart failure caused by LVNC at 47 years old. His daughter had scoliosis, and he had several physical characteristics suggestive of Marfan syndrome. We herein report a rare case of a patient who had Marfan-like connective disease with an LVNC appearance.

While the immediate effects of pregnancy on aortic dimension in patients with Marfan syndrome (MFS) have been evaluated, the late effects of subsequent pregnancies in these patients are less known. For this purpose, we evaluated 2 groups of women with MFS who were under specialized care in our institution. Group A included 23 women with MFS who experienced 55 pregnancies; group B included 12 nulliparous MFS patients. Patients in group A were similar in age (36.13 ± 5.6 years vs. 34.25 ± 6.54 years, p = 0.41) and follow-up time (group A 6.05 ± 3.56 years and group B 4.92 ± 3.37 years, p = 0.37). Baseline aortic root diameters as well as the aortic root diameters at follow-up visits were similar between groups (35.60 ± 4.42 vs. 35.08 ± 3.82 mm, p = 0.73, and 37.57 ± 4.66 vs. 37.33 ± 4.83 mm, p = 0.89, respectively). The aortic root diameter increased by 0.5 (0, 2) mm in group A and 1 (0, 4.5) mm in group B (p = 0.54). The rate of aortic dilation per year of follow-up was similar between the groups (0.34 ± 0.52 mm/year in group A vs. 0.55 ± 0.75 mm/year in group B [p = 0.52]). Chronic medical treatment was similar in both groups. Patients in both groups were treated similarly with β-blockers, angiotensin-converting enzyme inhibitors, and angiotensin II receptor blockers. In summary, subsequent pregnancies in patients with MFS were not associated with an increase in the rate of aortic root dilation in these patients.

Cardiac–valvular and vascular Ehlers–Danlos syndrome (EDS) have significant cardiovascular issues. The prevalence and significance of such abnormalities in classical (cEDS) or hypermobile EDS (hEDS) remain unclear. We report the prevalence of cardiac abnormalities in patients with cEDS and hEDS. We identified 532 pediatric patients with potential EDS evaluated at our institution from January 2014 through April 2019 by retrospective chart review. Ninety-five patients (12 cEDS and 83 hEDS patients) met 2017 EDS diagnostic criteria and had an echocardiogram. One patient was excluded due to complex congenital heart disease, and two were excluded due to lack of images. We reviewed echocardiograms for all structural abnormalities. Of these 95 patients, 1 had mild aortic root dilation, and 1 had mild ascending aorta dilation in the setting of a bicuspid aortic valve. Eleven patients (11.6%) had a cardiac valve abnormality, all of which were trivial to mild. None of the patients required cardiac intervention. Our results demonstrate that aortic dilation and valvular anomalies are uncommon in cEDS or hEDS patients. Given the lack of evidence, we do not recommend echocardiographic evaluation and surveillance in patients with cEDS and hEDS in the absence of clinical findings or positive family history.

One of the roles of a pediatric cardiologist who suspects or diagnoses a genetically determined connective tissue disease (e.g., Marfan, Ehlers–Danlos, and Loeys–Dietz syndromes) is to assess whether the aortic root is dilated. The aortic root diameter is affected by the patient’s age, sex, and body surface area. Therefore, the aortic root diameter needs to be determined and expressed as a z-score. Calculation of the z-score is time-consuming and problematic if used infrequently. This study aimed to introduce a simple screening method for identifying aortic root dilation in children. The study population consisted of 190 children who were diagnosed with Marfan syndrome or Marfan-like disorders. The aortic root ratio (ARr) was formulated. The value of the ARr was compared in each patient with the results in z-scores, which were obtained using on-line calculators based on the most widespread nomograms. The optimal cut-off value of the ARr was ≥ 18.7. At this cut-off point, the sensitivity of the ARr ranged from 88.3% to 100% and the specificity ranged from 94% to 97.8%. All of the patients in whom the ARr failed to identify aortic root dilation were also divergently classified by different nomograms. At the ARr cut-off point of ≥ 18.0, a sensitivity of 100% was achieved for all nomograms with minimal reduction in specificity. The ARr allows for rapid and precise screening for aortic root dilation in children. Unlike classic analysis, the ARr does not require nomograms or on-line calculations.

AIM We sought to assess the long-term changes in aortic root diameter in a population-based sample, focusing on new-onset aortic root dilatation, as well as on the demographic and clinical variables independently related to this dynamic process. METHODS A total of 1122 participants with measurable echocardiographic parameters at baseline and after a 10-year follow-up were included in the analysis. Sex-specific upper limits of normality for absolute aortic root diameter, aortic root diameter indexed to body surface area (BSA) and to height were derived from 712 healthy normotensive PAMELA participants. RESULTS Over the 10-year follow-up, new aortic root dilatation occurred in 3.4% (aortic root /BSA), 4.4% (aortic root /height) and 7.3% (absolute aortic root), respectively. No substantial relationship was observed between baseline office and ambulatory blood pressure (BP) or their changes over time and incident aortic root /BSA and aortic root /height dilatation. Baseline aortic root diameter and left ventricular mass index (LVMI) emerged as important predictors of aortic root dilation, regardless of the diagnostic criteria used. This was also the case for the 10-year change in LVMI. The strength of association between nonhemodynamic variables and new-onset aortic root dilatation was variable, depending on the definition of the aortic phenotype. CONCLUSION The incidence of aortic root dilatation in a general middle-aged population is a relatively infrequent but not so rare event and scarcely influenced by both office and out-office BP. On the contrary, it is strongly related to LVMI (and its variations over time). From a clinical perspective, this underlines that LVH prevention and regression can reduce the risk of aortic root dilatation in the community.

Aortic root dilation and thoracic aortic aneurysms are relatively rare in young and healthy patient populations. However, a number of observed incidental cases regarding young males and testosterone use raises suspicion of a potential risk factor for aortic root dilation. The authors’ patient, a healthy 40-year-old man with a significant history of testosterone use who developed a massively dilated aortic root, is sufficiently alarming to report. Notwithstanding anecdotal cases, there exists a well-known association between elite strength athletes and aortic root dilation. Nevertheless, very little clinical research exists on the relationship between testosterone use and aortic root dilation and/or thoracic aortic aneurysms. Furthermore, a small number of animal studies showed a relationship between testosterone and vascular dilation, particularly the aorta. Although testosterone may play a role in the development of aortic pathologies, further research is necessary to clarify the possible relationship if cases such as these are to be prevented.

Aortic root dilation is nearly universal among patients with Marfan syndrome (MFS) and many patients require aortic root replacement to prevent devastating aortic catastrophe. This has traditionally entailed placement of a composite-valved graft, often with a mechanical aortic valve, necessitating lifelong anticoagulation. In the 1990s, a significant development within the field of cardiac surgery occurred, and valve sparing root replacement (VSRR) techniques were developed and refined. These allow prophylactic replacement of aortic root aneurysms while sparing a healthy, functioning aortic valve. These techniques have been shown to be safe and durable in patients with MFS.1 2 However, VSRR is a technically demanding procedure that is not available in all cardiac centres. This has led some to investigate alternatives to VSRR, in an effort to make these repairs both safer and more generalisable within the cardiac surgical community. Van Hoof and colleagues3 report outcomes on the first 200 consecutive patients undergoing the personalized external aortic root support (PEARS) procedure. The results of this innovative procedure are very encouraging, with a 0.5% perioperative mortality. Late reoperations were only performed in three patients, and no type A dissections occurred during the follow-up period. Further, the PEARS procedure seems to have a positive impact on aortic regurgitation and medium-term valve outcomes seem promising. These results are remarkable and the authors and surgeons dedicated to pioneering this innovative approach …

Background Left atrial (LA) size is frequently assessed by posterior-anterior linear measurement of LA (LAD P-A) in the parasternal long axis to expedite examination. Aging, changes in body surface area, and several cardiovascular pathologies can affect aortic root (AoR) size, thereby affecting LA anatomical shape. We hypothesized that AoR dilatation influences LAD P-A and consequently correct assessment of LA size. Results We tested our hypothesis in a study of 70 patients with AoR diameter ranging from 2.7 to 4.8 cm. LA size assessed in parasternal long axis view as LAD P-A was compared to that with LA width and length acquired in the apical two and four chamber view. Simpson’s method of discs was used as standard measurement to assess LA volume. We observed that LAD P-A in the parasternal long axis decreases when AoR diameter increases. Thus, the increase in LA size assessed in parasternal long axis did not correlate with the increase of LA volume. Further analysis revealed that a significant positive correlation was observed when LAV was plotted as a function of LAD P-A only for those with a normal size AoR. In contrast, LA volume increase correlated with LA diameters assessed in the apical two and four chamber view regardless of AoR size. Conclusions Our study documents that increases in AoR impact on the linear measurement of LA, resulting in an underestimated LAD P-A. LA size ought to be calculated from the apical two and four chambers view parameters, especially in patients with AoR dilatation.

Systemic sclerosis (SSc) is an autoimmune disease characterized by endothelial dysfunction and fibroblasts activation. Microvascular disease may be easily observed by means of nailfold capillaroscopy. Recent evidences emphasized also the involvement of large-medium arteries in SSc, mainly in terms of increased stiffness of the vessel wall. The study aims to measure aortic root diameter in a cohort of SSc patients and to correlate echocardiographic findings with the capillaroscopic pictures. We analyzed the clinical records of 125 consecutive SSc patients (M/F 14/111, mean age 55 ± 12.7years, median disease duration 11years) referring in 3 second-level rheumatology centers. All subjects underwent to heart ultrasound evaluation and videocapillaroscopic evaluation. At capillaroscopy, the patients with early SSc pattern belonged to the subgroup 1, while those with the active/late patterns (characterized by the reduction of capillary density) belonged to the subgroup 2. We found aortic root dilation in 8 (6.4%) SSc patients, with a mean value of 37.8 ± 1.2mm (range 37–40mm). Aortic root dilation was observed in only one patient in the subgroup 1 (1/62, 1.6%) and in 7 cases of the subgroup 2 (7/63, 11.1%; p = 0.03). Our study found a significant association between aortic root dilation and impairment of capillary density at nailfold videocapillaroscopy in SSc patients. We hypothesize that SSc-related microangiopathy revealed by nailfold videocapillaroscopy could mimic that of aortic vasa vasorum, contributing to deteriorate the aortic wall structure and favoring aortic root dilation and stiffening.

Background Standard therapy for aortic root dilation in the setting of bicuspid aortic valves remains use of a composite valve conduit. The long-term durability of valve-sparing root replacement (VSRR) in bicuspid aortopathy is presently unclear. In this study, the midterm results of performing VSRR in the setting of a bicuspid valve was analyzed. Methods A single institutional database identified 280 patients who underwent VSRR from 2005 to 2016. Outcomes were analyzed in 60 consecutive patients undergoing a VSRR in the setting of a bicuspid aortic valve with aortic insufficiency (AI). Patients were followed prospectively and had annual echocardiograms. Results The average age in this series was 42 ± 11 years. Eighty percent were men and 33% had New York Heart Association class III to IV symptoms. More than 2+ AI was present in 42% of patients preoperatively. The incidence of operative death, stroke, and renal failure was 0%. Mean follow-up was 39 ± 30 months. At latest follow-up, 62% of patients had zero AI and 87% of patients had 2+ AI was 97% and freedom from AVR was 96%. Preoperative AI was not found to be a significant risk factor for postoperative >2+ AI (p = 0.61) or AVR (p = 0.61). Conclusions VSRR can be safely and effectively performed in young patients with bicuspid valve anatomy regardless of degree of preoperative AI. Valve function is durable and the incidence of valve-related complications is low. VSRR is an attractive and potentially superior option to conventional root replacement in appropriately selected patients with bicuspid aortopathy.

Background: There is a growing interest in the relationship between atrial septal anatomy and cardioembolic stroke. Anecdotal reports suggest that the enlargement of the aortic root could interfere with atrial septal mobility (ASM). We sought to investigate the association between ASM and aortic root dilation.Methods and Findings: From all consecutive clinically requested transesophageal echocardiogram (TEE) studies performed during the study period in a single institution, we were able to review and evaluate the ASM and anteroposterior length, aortic root diameter, and the prevalence of atrial septal aneurysm (ASA) and of patent foramen ovale (PFO) in 336 studies. Additional variables, such as left ventricular ejection fraction, left atrial diameter, diastolic dysfunction, age, sex, weight, height, previous stroke, atrial fibrillation, and TEE indication, were extracted from patient medical records and echocardiographic clinical reports. In 336 patients, we found a mean ASM of 3.4 mm, ranging from 0 to 21 mm; 15% had ASA and 14% had PFO. There was a 1.0 mm increase in ASM for every 10-mm increase in aortic root diameter adjusted for age, sex, weight, height, ejection fraction, and left atrial size (B = 0.1; P = 0.04). Aortic diameter was not associated with a smaller septal length (B = 0.03; P = 0.7).Conclusion: An increased motion of the atrial septum can occur in association with aortic dilation. These findings deserve attention for the relevance of aortic root anatomy in future studies involving atrial septal characteristics and embolic stroke risk.

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.

Loeys-Dietz (LDS) syndromes (types 1-5) are autosomal dominant conditions with pathogenic variants in TGFβR1, TGFβR2, SMAD3, TGFβ2 and TGFβ3 that affect the cardiovascular, musculoskeletal and craniofacial systems. Aortic root dissection is a major cause of mortality in these individuals. Aortic root dilation is often present in childhood and may be recognized in utero. Our case highlights the prenatal ultrasound features of LDS. This article is protected by copyright. All rights reserved.

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 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

Patients with a known genetic cause of aortic root dilation usually have a single underlying aetiology, either a single gene defect as in Marfan syndrome or chromosomal anomaly as in Turner syndrome. However, it is possible, although unlikely, for a patient to inherit multiple independent risk factors for aortic root dilation. We describe such a patient, who inherited Marfan syndrome and a very unusual form of mosaic Turner syndrome. Long-term follow-up of this patient may provide insight into the natural history of this unique genetic combination.

Background/Aims: The Pediatric Heart Network Marfan Trial was a randomized trial comparing atenolol versus losartan on aortic root dilation in 608 children and young adults with Marfan syndrome. Barriers to enrollment included a limited pool of eligible participants, restrictive entry criteria, and a diverse age range that required pediatric and adult expertise. Retention was complicated by a 3-year commitment to a complex study and medication regimen. The Network partnered with the Marfan Foundation, bridging the community with the research. The aims of this study are to report protocol and medication adherence and associated predictive factors, and to describe recruitment and retention strategies. Methods: Recruitment, retention, and adherence to protocol activities related to the primary outcome were measured. Retention was measured by percentage of enrolled participants with 3-year outcome data. Protocol adherence was calculated by completion rates of study visits, ambulatory electrocardiography (Holter monitoring), and quarterly calls. Medication adherence was assessed by the number of tablets or the amount of liquid in bottles returned. Centers were ranked according to adherence (high, medium, and low tertiles). Recruitment, retention, and adherence questionnaires were completed by sites. Descriptive statistics summarized recruitment, retention, and adherence, as well as questionnaire results. Regression modeling assessed predictors of adherence. Results: Completion rates for visits, Holter monitors, and quarterly calls were 99%, 94%, and 96%, respectively. Primary outcome data at 3 years were obtained for 88% of participants. The mean percentage of medication taken was estimated at 89%. Site and age were associated with all measures of adherence. Young adult and African American participants had lower levels of adherence. Higher adherence sites employed more strategies; had more staffing resources, less key staff turnover, and more collaboration with referring providers; utilized the Foundation’s resources; and used a greater number of strategies to recruit, retain, and promote protocol and medication adherence. Conclusion: Overall adherence was excellent for this trial conducted within a National Institutes of Health–funded clinical trial network. Strategies specifically targeted to young adults and African Americans may have been beneficial. Many strategies employed by higher adherence sites are ones that any site could easily use, such as greeting families at non-study hospital visits, asking for family feedback, providing calendars for tracking schedules, and recommending apps for medication reminders. Additional key learnings include adherence differences by age, race, and site, the value of collaborative learning, and the importance of partnerships with patient advocacy groups. These lessons could shape recruitment, retention, and adherence to improve the quality of future complex trials involving rare conditions.

Several life-threatening complications can develop in the ascending aorta, which include dissection or rupture of an aortic aneurysm. Those at high risk of developing such complications can be categorised according to the types of thoracic aneurysms. Older individuals (age >59 years), and especially men, with atherosclerotic disease including hypertension are vulnerable to develop supravalvular aortic aneurysms (above the sinuses of Valsalva).1 Aortic root (AR) aneurysms occur mostly in younger individuals (age

Objective To determine whether the Ghent Criteria (2010) can be reliably used in evaluating preadolescents and adolescents for Marfan syndrome by comparing aortic growth, systemic scores, and anthropometric features in individuals with and without Marfan syndrome. Study design A retrospective chart review was completed for patients less than 15 years of age referred for Marfan syndrome. Comparisons were made between the first and last visit. Paired t tests were used to compare Ghent systemic scores. Wilcoxon rank-sum test were used to compare age, aortic root z scores, height z scores, and body mass index z scores. Recursive partitioning was used to identify combinations of factors to distinguish Marfan syndrome. Results In total, 53 individuals met inclusion criteria (29 Marfan syndrome and 24 non-Marfan syndrome). Ghent systemic score increased in the Marfan syndrome group and declined in the non-Marfan syndrome. The non-Marfan syndrome group did not develop progressive aortic root dilation with age. Individuals with Marfan syndrome had higher median height z scores than non-Marfan syndrome, with no difference in median body mass index z score between groups. A combination of aortic root z score above 0.95 and Ghent systemic score above 3 was highly indicative of a Marfan syndrome diagnosis in children less than 15 years of age. Conclusion The Ghent criteria (2010) can be used to reliably exclude a diagnosis of Marfan syndrome in individuals less than 15 years of age. Genetic testing should be used as an aide in confirming or excluding the diagnosis of Marfan syndrome in individuals with an aortic root z score above 0.95 in combination with a Ghent systemic score above 3 at initial visit.

Ehlers-Danlos syndromes (EDSs) are a group of inherited connective tissue disorders, and among them, classical EDS (cEDS) and hypermobile EDS (hEDS) are the most common. Mitral valve prolapse (MVP) and aortic root dilation (ARD) have previously been reported to occur at an increased frequency within cEDS and hEDS. More recently, a study performed in the pediatric population did not show increased prevalence (Ritter et al., American Journal of Medical Genetics Part A, 173(6), 1467-1472, 2017). The purpose of this study was to review a large population of individuals with cEDS, hEDS, and hypermobility spectrum disorders to determine the frequency of MVP and ARD. A retrospective chart review of 209 individuals with echocardiograms was performed. Overall, 6.4% (13/209) had MVP and 1.6% (3/189) were found to have ARD. Although the presence of MVP is higher than what has been reported in the general population, no patients had severe MVP or required surgical intervention. No patients in this cohort had an aortic root diameter requiring surgical repair. Based on the results of this study and previous studies, routine echocardiograms to assess for valvular diseases and ARD may not be necessary unless warranted by presence of symptoms or family history.

Loeys-Dietz syndrome is a rare connective tissue disorder with widespread arterial tortuosity and aneurysms. This syndrome is most notable for its aortic disease, including aortic root dilation and aortic dissection or rupture. Although not as well studied, peripheral artery aneurysms are a prevalent concurrent manifestation and have previously been repaired with both open and endovascular approaches. There are minimal data about the durability and technical considerations of endovascular repair in this disease. We report a case of a patient who developed an extremely tortuous recurrent femoral-popliteal artery aneurysm secondary to aneurysmal degeneration around previously placed stents that was treated with an endovascular approach.

Objective To discover whether patients with aortic root dilation and leptosomic features but without a diagnosis of Marfan syndrome (MFS) fare similarly to patients with MFS. Methods Of 124 patients with aortic root dilation identified from August 1, 1994, through October 31, 2012, 66 had MFS and 58 had leptosomic features but did not meet the Ghent criteria. Genetic testing was performed in 35% of patients (n=43). We compared z scores and aortic root diameters for patients who presented with aortic root dilation with and without an MFS diagnosis and with and without aortic root repair. Results No difference existed in initial aortic root diameters between groups ( P =.15); however, mean ± SD z scores for patients without MFS and with MFS were 3.1±2.3 vs 4.5±3.2 ( P =.005). Fourteen of 58 patients (24%) without MFS and 35 (53%) with MFS underwent aortic root operations ( P z scores remained similar at follow-up ( P =.20), as did 10-year survival: MFS, 100%; no MFS, 94.1% ( P =.98). No significant difference was found for mean ± SD root diameter (no MFS, 38.9±7.3 mm; MFS, 35±8.6 mm; P =.06) or z score (no MFS, 2.4±2.0; MFS, 2.1±2.0; P =.53) for patients who underwent surgery. Two patients in each group had aortic root dissections. Conclusion Similar rates of aortic dissection between the 2 groups warrant further study regarding patients with leptosomic features but no diagnosis of MFS. Aortic root dilation progressed similarly in patients who did not undergo surgery.

This case report describes a 55-year-old male who presented with acute Type A aortic dissection. He underwent emergent surgical repair, and his intraoperative transesophageal echocardiography revealed a quadricuspid aortic valve. His aortic root measured 45 mm. Quadricuspid aortic valves have previously been associated with aortic root dilation. This case illustrates the possible association of quadricuspid aortic valves with aortic dissection, similar to what is described with bicuspid valves.

Objective The effects of pregnancy on autograft dilatation and neoaortic valve function in patients with a Ross procedure have not been studied. We sought to evaluate the effect of pregnancy on autograft dilatation and valve function in these patients with the goal of determining whether pregnancy is safe after the Ross procedure. Design A retrospective chart review of female patients who underwent a Ross procedure was conducted. Patients Medical records for 51 patients were reviewed. Among the 33 patients who met inclusion criteria, 11 became pregnant after surgery and 22 did not. Outcome measures Echocardiographic reports were used to record aortic root diameter and aortic insufficiency before, during, and after pregnancy. Patient's charts were reviewed for reinterventions and complications. Primary endpoints included reinterventions, aortic root dilation of ≥5 cm, aortic insufficiency degree ≥ moderate, and death. Results There were 18 pregnancies carried beyond 20 weeks in 11 patients. There was no significant difference in aortic root diameter between nulliparous patients and parous patients prior to their first pregnancy (3.53 ± 0.44 vs 3.57 ± 0.69 cm, P = .74). There was no significant change in aortic root diameter after first pregnancy (3.7 ± 0.4 cm, P = .056) although there was significant dilatation after the second (4.3 ± 0.7 cm, P = .009) and third (4.5 ± 0.7 cm, P = .009) pregnancies. Freedom from combined endpoints was significantly higher for patients in the pregnancy group than those in the nonpregnancy group (P = .002). Conclusions Pregnancy was not associated with significantly increased adverse events in patients following the Ross procedure. Special care should be taken after the first pregnancy, as multiparity may lead to increased neoaortic dilatation.

Background: Aortic root dilation (ARD) has been reported in patients with 22q11.2 deletion syndrome (22q11.2DS) with and without congenital heart defects (CHDs). The long-term implications of ARD in 22q11.2DS are unknown and thus the timing and necessity of long-term follow up is undefined. The aim of this study is to better understand the prevalence, longitudinal course and clinical risk factors for ARD in patients with 22q11.2DS without major CHDs. Methods: Patients less than 25 years with 22q11.2DS were identified from the electronic medical record and 22q and You Center …

Background Retrospective compared the results of root reconstruction and root replacement for acute type A aortic dissection (ATAAD) patients and observed the rate of aortic insufficiency (AI) and aortic root dilation in the midterm follow-up period. Methods From 2008-2016, 427 ATAAD patients received surgical therapy in our center. There were 328 male and 99 female patients, aging from 22 to 83 years with a mean age of (51.1±12.5) years. These patients were divided into two major groups: 298 cases with root reinforcement reconstruction (Root Reconstruction), 129 cases with Bentall procedure (Root Replacement). Results The 30-day mortality was 7.7% (33/427), while no difference between the 2 procedures (8.1% and 7.0%, P=0.844). Cross-clamp, cardiopulmonary bypass, and circulatory arrest times of all the patients were 252.5±78.1, 173.6±68.9, 30.7±9.5 minutes, respectively. In the average follow-up time of (34.5±26.1) months, midterm survival rates were similar between the 2 procedures (86.2% and 86.0%, P=0.957). Only one patient received redo Bentall procedure because of severe aortic regurgitation and dilated aortic root (50 mm) in the Root Reconstruction Group. Conclusions The indication of root management of ATAAD is based on the diameter of aortic root, structure of aortic root, and the dissection involvement. For most ATAAD patients, aortic root reinforcement reconstruction is a feasible and safe method.

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 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

Background The most common cardiovascular complications in Marfan syndrome (MFS) are aortic root dilation and type A aortic dissections. Elective aortic root surgery is indicated when maximum aortic diameter is larger than a defined threshold or in the case of fast-progressing dilation. However, maximum aortic diameter is limited for the prediction of aortic events. Indeed, a large international registry of acute aortic syndromes reported that as much as 40% of aortic dissections happen with maximum aortic diameter lower than 50 mm. Consequently, there is a need for new, non-invasive biomarkers to improve the prediction of aortic complications. Purpose The aim of the present study was to assess if proximal aorta circumferential and longitudinal strain and ascending aorta distensibility were associated with progressive aortic dilation and incidence of aortic events in Marfan syndrome patients. Methods Eighty seven Marfan syndrome patients free from previous cardiac/aortic surgery or dissection, were prospectively included in a multicenter follow-up. Patients were diagnosed by original Ghent criteria. Proximal aorta longitudinal and circumferential strain and distensibility were computed from baseline cine CMR images by means of feature-tracking. The predictive capacity of each stiffness biomarkers was separately tested with multivariable linear regression analysis (aortic growth) and with Cox logistic regression analysis (aortic events), both corrected for clinical and demographic variables, including baseline maximum aortic diameter. Results During a follow-up of 81.6±17 months, mean diameter growth-rate was 0.65±0.67 mm/year and z-score growth rate was 0.07±0.13 / year. Elective aortic root replacement was performed in 11 patients while two patients presented type A aortic dissection.Baseline proximal aorta longitudinal strain was independently related to diameter growth-rate (p=0.001), z-score growth-rate (p=0.018) and aortic events (p=0.018). Conversely, neither circumferential strain nor distensibility were independent predictors of diameter growth-rate (p=0.385 and p=0.381, respectively), z-score growth-rate (p=0.515 and p=0.484, respectively) and aortic events (p=0.064 and p=0.205, respectively). Conclusions Proximal aorta longitudinal strain predicts aortic root dilation and major aortic events in Marfan syndrome patients beyond aortic root diameter and clinical and demographic characteristics. Acknowledgement/Funding ISCIII PI14/0106, La Maratό de TV3 (20151330) and CIBERCV. Guala A. FP7/People n° 267128

Valve-sparing aortic root reconstruction presents an alternative to valve replacement. However, choosing the optimal prosthesis size for the individual patient is a critical task during surgery. To assist the surgeons in their decision making, a pre-operative surgery planning tool based on 3D ultrasound data has been proposed.

A fluid–structure interaction (FSI) numerical model of the aortic valve was used to simulate and compare young and physiological aged operating conditions. The effect of normal ageing was considered by introducing alterations typically associated with senility: namely mild stiffening of the tissues and progressive dilation of the aortic chamber. The aim of this study is to provide a haemodynamic baseline which allows to assess the typical physiological variations associated with advancing age. Results were analysed in terms of leaflets kinematics, flow dynamics, pressure and valve performance parameters. The study indicates that the normal changes occurring with ageing, such as stiffening and progressive aortic root dilation, can result in substantial alterations in the haemodynamics and mechanical efficiency of the aortic valve. In particular, mild tissue stiffening and aortic root dilation reduce the valve efficiency over the cardiac cycle. The concomitant presence of both phenomena can lead to some mitigation of the impairment. The observed changes, which can be associated with normal and healthy ageing, need to be taken into consideration when evaluating the real pathological contribution of aortic valve diseases occurring in aged patients.

Although aortic valve-sparing (AVS) operations are established alternatives to composite valve graft (CVG) procedures for patients with aortic root aneurysms, comparative long-term outcomes are lacking.This study sought to compare the results of patients undergoing AVS procedures with those undergoing CVG operations.From 1990 to 2010, a total of 616 patients age 70 years and without aortic stenosis underwent elective aortic root surgery (AVS, n = 253; CVG with a bioprosthesis [bio-CVG], n = 180; CVG with a mechanical prosthesis [m-CVG], n = 183). A propensity score was used as a covariate to adjust for unbalanced variables in group comparisons. Mean age was 46 ± 14 years, 83.3% were male, and mean follow-up was 9.8 ± 5.3 years.Patients undergoing AVS had higher rates of Marfan syndrome and lower rates of bicuspid aortic valve than those undergoing bio-CVG or m-CVG procedures. In-hospital mortality (0.3%) and stroke rate (1.3%) were similar among groups. After adjusting for clinical covariates, both bio-CVG and m-CVG procedures were associated with increased long-term major adverse valve-related events compared with patients undergoing AVS (hazard ratio [HR]: 3.4, p = 0.005; and HR: 5.2, p 0.001, respectively). They were also associated with increased cardiac mortality (HR: 7.0, p = 0.001; and HR: 6.4, p = 0.003). Furthermore, bio-CVG procedures were associated with increased risk of reoperations (HR: 6.9; p = 0.003), and m-CVG procedures were associated with increased risk of anticoagulant-related hemorrhage (HR: 5.6; p = 0.008) compared with AVS procedures.This comparative study showed that AVS procedures were associated with reduced cardiac mortality and valve-related complications when compared with bio-CVG and m-CVG. AVS is the treatment of choice for young patients with aortic root aneurysm and normal or near-normal aortic cusps.

Aims It has been hypothesized that in response to dilation of the aortic root, the aortic valve cusps may remodel to prevent aortic regurgitation (AR). The aim of the present study was to evaluate the association between aortic cusp dimensions and aortic root geometry. Methods and results Three-dimensional transoesophageal echocardiography was performed in 40 patients with aortic root dilation (mean age 57 ± 12 years, 75% men, 35% bicuspid aortic valve) and 20 controls with a normal aortic root (mean age 61 ± 13 years, 65% men). Aortic valve geometry was measured, and the ratio between closed cusp area and sinotubular junction (STJ) area as a measure of the aortic cusp remodelling relative to the aortic root dilation was assessed. Patients with aortic root dilation with tricuspid aortic valve ( n = 26) showed significant increase in aortic cusp size. However, the closed cusp area to STJ area ratio was smaller in dilated aortic roots [0.88 (95% confidence interval: 0.78–0.98)] compared with normal aortic roots [1.22 (95% confidence interval: 1.02–1.41); P = 0.002]. In addition, in patients with central AR, there was insufficient cusp tissue, as suggested by a closed cusp area to STJ area ratio of 0.75 (95% confidence interval: 0.67–0.82), compared with relative excess of cusp tissue in eccentric AR with a ratio of 1.14 (95% confidence interval: 1.01–1.27; P < 0.001). Conclusion Aortic root dilation was associated with significant increase in aortic valve cusp size. However, this increase seemed insufficient to match aortic root size, particularly in central AR, whereas in eccentric AR, there was relative abundance of cusp tissue resulting in relative cusp prolapse.

Aortic root dilation is a risk factor for aneurysm and dissection. Echocardiography (echo) is the most frequently used initial screening method for the aortic root, but computed tomography (CT) is a preferred modality because of the ability to reformat the images and obtain measurements without the technical limits of echo image acquisition. There are limited data comparing the 2 modalities in measuring the aortic root.This was a retrospective cohort study comparing echo with CT in measuring the aortic root and was conducted at a children's hospital. Forty adolescents (range, 10 to 18 y) with pectus excavatum were evaluated.In the majority of patients (68%), echo underestimated the aortic root size compared with the CT measurement by at least 1 SD. The average difference between the 2 modalities was 2.5 mm. There was a trend for a greater difference between modalities as the aortic root increased. The severity of the deformity by Haller index did not correlate with greater underestimation of the aortic root size. The shape of the aortic root, ranging from circular to ovoid, also did not contribute to the underestimation of aortic root size by echo.Echo can be used as a screening method for the aortic root, but it can underestimate the aortic root size when compared with CT measurements in pediatric patients with pectus excavatum. This difference was more profound as the diameter of the aortic root increased. Patients with dilated aortic roots on echocardiogram may benefit from biorthogonal measurements offered by other imaging modalities such as CT or magnetic resonance imaging.

Hypertension (HTN) is a known risk for development of aortic root dilation. Echocardiography (2-D) is a Class II indication for HTN when there is suspected structural disease or CHF. Limitations of 2-D include a 90 degree arc of imaging, narrow intercostal space and difficult alignment along the

The Cardiovascular Health Study demonstrated that aortic root dilation (ARD) was associated with an increased risk of stroke and cardiovascular disease mortality in men and women. ARD is often asymptomatic and incidentally discovered on 2-D echo, since 2-D echo is the recommended ACC/AHA imaging

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.

Several surgical options are available for the treatment of (severe) aortic valve regurgitation with or without aortic root dilation. Each of this treatment options is associated with a number of advantages and disadvantages. For aortic valve replacement with mechanical valve prostheses, there are multi-decade results showing excellent outcome in terms of valve durability and low reoperation hazard; however, the risk of a bleeding event due to lifetime anticoagulation therapy, thromboembolic events, and a reduced survival in especially younger patients is still present.

Graphical abstract, Highlights • Adult congenital patients with tetralogy of Fallot require life long follow-up. • Early left ventricular dysfunction in repaired tetralogy of Fallot warrants evaluation. • Multimodality imaging should be used when unusual echocardiography findings are present.

Background Marfan syndrome is characterized by aortic root dilation, beginning in childhood. Data about aortic pulsatile hemodynamics and stiffness in pediatric age are currently lacking. Methods and Results In 51 young patients with Marfan syndrome (12.0±3.3 years), carotid tonometry was performed for the measurement of central pulse pressure, pulse pressure amplification, and aortic stiffness (carotid‐femoral pulse wave velocity). Patients underwent an echocardiogram at baseline and at 1 year follow‐up and a genetic evaluation. Pathogenetic fibrillin‐1 mutations were classified between “dominant negative” and “haploinsufficient.” The hemodynamic parameters of patients were compared with those of 80 sex, age, blood pressure, and heart‐rate matched controls. Central pulse pressure was significantly higher (38.3±12.3 versus 33.6±7.8 mm Hg; P =0.009), and pulse pressure amplification was significantly reduced in Marfan than controls (17.9±15.3% versus 32.3±17.4%; P P =0.010; β=−0.271, P =0.026). No significant difference in hemodynamic parameters was found according to fibrillin‐1 genotype. Patients who increased aortic Z‐scores at 1‐year follow‐up presented a higher central pulse pressure than the remaining (42.7±14.2 versus 32.3±5.9 mm Hg; P =0.004). Conclusions Central pulse pressure and pulse pressure amplification were impaired in pediatric Marfan syndrome, and associated with aortic root diameters, whereas aortic pulse wave velocity was similar to that of a general pediatric population. An increased central pulse pressure was present among patients whose aortic dilatation worsened at 1‐year follow‐up.

Basketball and volleyball attract individuals with a characteristic biophysical profile, mimicking features of Marfan syndrome. Consequently, identification of these abnormalities can be lifesaving. Purpose: To determine how physical examination, echocardiography, and genetic screening can identify elite volleyball players with a previously undiagnosed aortopathy. Methods: We have performed cardiac screening on 90 US Volleyball National Team members and identified four individuals with dilated sinuses of Valsalva. This case series reports on three individuals who underwent a comprehensive genetics evaluation, including gene sequencing. Results: Cardiac screening combined with genetic testing can identify previously undiagnosed tall athletes with an aortopathy, in the absence of noncardiac findings of a connective tissue disorder. Subject 1 had a revised Ghent systems (RGS) score of 2 and a normal aortopathy gene panel. Subject 2 had a RGS score of 1 and genetic testing revealed a de novo disease causing mutation in the gene encoding fibrillin-1 (FBN1). Subject 3 had an RGS score of 4.0 and had a normal aortopathy gene panel. Conclusions: Despite variable clinical features of Marfan syndrome, dilated sinuses of Valsalva were found in 4.9% of the athletes. A disease-causing mutation in the FBN1 gene was identified in subject 2, who had the lowest RGS but the largest aortic root measurement. Subjects 1 and 3, with the highest RGS, had a normal aortopathy gene panel. Our findings provide further evidence suggesting that a cardiac evaluation, including a screening echocardiogram, should be performed on all elite tall adult athletes independent of other physical findings. Genetic testing should be considered for athletes with dilated sinuses of Valsalva (male, >4.2 cm; female, >3.4 cm), regardless of other extracardiac findings.

The aorta in transposition of the great arteries (TGA) has unique anatomical and operative features; the pulmonary valve and root are used to form the neo-aortic valve and root, and the aortic root undergoes surgical insult with the arterial switch operation. Aortopathy, defined as aortic root dilatation caused by abnormalities in aortic pathophysiological function with low coronary artery flow and systemic ventricular dysfunction, is a clinically important sequel in TGA patients. Despite variation between individuals, aortopathy generally progresses with age; aortic root dilation is progressive, and aortic distensibility and freedom from significant aortic regurgitation (AR) decrease with age. Although aortopathy in TGA seems not as severe as that following the Ross operation, some patients with marked aortic root dilation or severe AR require repeat operations. Research on aortopathy in TGA is currently accumulating information on the nature of the aortopathy, individual risk and protective factors, and anatomical, histological, and functional characteristics. Because of the progressive nature of aortopathy, further longer serial follow-up data need to be accumulated to clarify life-span prognosis of aortopathy and develop effective therapeutic strategies to prevent/ameliorate aortopathy in TGA patients.

With more patients with hypoplastic left heart syndrome (HLHS) palliated through surgical revision and surviving into adulthood, long-term performance of the right-sided structures in the systemic position has become a clinical concern. Aortopathy, progressive dilation of aortic root, is one of such problems. Aortopathy in patients with HLHS is becoming a legitimate issue as it is related to aortic regurgitation, aortic dissection, and potential ventricular dysfunction, which might require surgical re-intervention. Although pathophysiology of aortic root dilation in patients with HLHS is largely unknown, several aspects of HLHS are considered to be related to the pathogenesis, such as anatomical, genetic, and hemodynamic factors, which will be described in detail in this chapter. Further elucidation of risk factors for progressive aortic dilation in HLHS as well as its mechanisms is required to establish disease-specific and stratified approach, as no specific recommendations for the management of aortic dilation in HLHS are currently available.

Marfan syndrome is the most common inherited disorder of connective tissue affecting multiple organ systems. Identification of the facial, ocular and skeletal features should prompt referral for aortic imaging since sudden death by aortic dissection and rupture remains a major cause of death in patients with unrecognized Marfan syndrome. Echocardiography is recommended as the initial imaging test, and once a dilated aortic root is identified magnetic resonance or computed tomography should be done to assess the entire aorta. Prophylactic aortic root replacement is safe and has been demonstrated to improve life expectancy in patients with Marfan syndrome. Medical therapy for Marfan syndrome includes the use of beta blockers in older children and adults with an enlarged aorta. Addition of angiotensin receptor antagonists has been shown to slow the progression of aortic root dilation compared to beta blockers alone. Lifelong and regular follow up in a center for specialized care is important for patients with Marfan syndrome. We present a case of a patient with clinical features of Marfan syndrome and discuss possible therapeutic interventions for her dilated aorta.