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Mid-aortic syndrome (MAS) is an uncommon condition characterized by severe narrowing of the abdominal aorta, usually involving visceral and renal arteries. Most patients are asymptomatic and typically present with incidental hypertension which might evolve into end-organ damage if untreated. Our aim was to review 8 new pediatric MAS cases. A retrospective observational study of all pediatric patients with MAS diagnosis (April 1992-November 2021) was conducted. Patients underwent systematic evaluation (medical and family history; 12-lead electrocardiogram; echocardiogram; angiography and/or computed tomography or magnetic resonance angiography). 8 pediatric patients with MAS were included. Median age at diagnosis was 2.6 [0.2-4.7] years; median follow-up time was 8.6 [6.6-10.0] years. 6/8 patients presented with incidental hypertension, 1/8 with heart murmur, and 1/8 with heart failure symptoms. All patients were on antihypertensive treatment. 1/8 patients underwent surgery and 7/8 an endovascular treatment. At the end of the study period, among the 6 patients that underwent a successful endovascular procedure, 2 achieved good blood pressure (BP) control, 2 acceptable BP control, 1 stage 1 hypertension and, another, stage 2 hypertension. There was 1 death during follow-up. BP monitoring in pediatric patients is crucial for early recognition of MAS. Treatment should be based on the individual clinical characteristics of patients with careful planning of surgical revascularisation, if possible, after adult growth is completed. Our study demonstrates that endovascular treatment might be a good alternative to surgery. Nevertheless, further trials with larger sample size and longer-term follow-up are required to determine the best treatment approach.

Instituto de Salud Carlos III (ISCIII), European Regional Development Fund/European Social Fund "A way to make Europe"/" Investing in your future" [PI18/0004, PI20/0320, PT17/0015/0043]; ISCIII; MCIN; Pro-CNIC Foundation; Severo Ochoa Centers of Excellence program [CEX2020-001041-S]; ISCIII [CM20/00101], Frutos F. de, Ochoa JP, Navarro-Peñalver M, Baas A, Bjerre JV, Zorio E, Méndez I, Lorca R, Verdonschot JAJ, García-Granja PE, Bilinska Z, Fatkin D, Fuentes-Cañamero ME, García-Pinilla JM, García-Álvarez MI, Girolami F, Barriales-Villa R, Díez-López C, Lopes LR, Wahbi K, García-Álvarez A, Rodríguez-Sánchez I, Rekondo-Olaetxea J, Rodríguez-Palomares JF, Gallego-Delgado M, Meder B, Kubanek M, Hansen FG, Restrepo-Córdoba MA, Palomino-Doza J, Ruiz-Guerrero L, Sarquella-Brugada G, Perez-Perez AJ, Bermúdez-Jiménez FJ, Ripoll-Vera T, Rasmussen TB, Jansen M, Sabater-Molina M, Elliot PM, Garcia-Pavia P; European Genetic Cardiomyopathies Initiative Investigators

Marfan syndrome is a rare connective tissue disorder secondary to mutations in the FBN1 gene, characterised by skeletal, ocular, and cardiovascular manifestations. We present an extensive cohort of paediatric patients with Marfan syndrome highlighting the vital importance of promptly referring paediatric first-degree relatives of Marfan syndrome paediatric patients to a tertiary hospital as our results confirm that they are at higher risk of aortic dilatation.

Introduction Marfan syndrome (MFS) is a connective tissue disorder related to FBN1 mutations. The main cardiac feature of this syndrome is the enlargement and the dissection of the ascending aorta. Close monitoring of the aortic root diameters and its preventive replacement has allowed improving life expectancy of these patients in the last decades. However, there is paucity of data about the outcome of aortic dissection affecting the descending aorta and its markers of poor evolution. Purpose To characterize patients with MFS and dissection involving the descending aorta. To compare baseline characteristics and the clinical outcome between patients with isolated type B dissection (Group B) and patients with type A dissection with residual B dissection (Group A). Methods Retrospective longitudinal analysis of patients that attended our Marfan unit between 2001 and 2021 with an aortic event involving the descending aorta. Clinical data were collected from electronic health records. Results From the global cohort of adults with Marfan syndrome seen at our centre, we identified a total of 37 adults (11.5% of the overall cohort) that had an acute aortic event with involvement of the descending aorta. 20 (54.1%) were type A aortic events and 17 (45.9%) were isolated type B dissections. Cardiovascular risk factors were similarly distributed in both groups but there was a significant higher percentage of women in Group B (35.0% vs 76.5%, p=0.012) (Figure 1). Acute management of the aortic event implied surgery in 17 (85.0%) patients in Group A and in 5 (29.4%) patients in Group B (p=0.001). In Group B, interventions were 3 TEVAR and 2 open surgeries. 2 (5.4%) patient died during the acute phase, 1 (5.0%) in Group A and 1 (5.9%) in Group B (p=ns).The remaining 35 patients (19 in Group A, 16 in Group B) were followed-up for 10.4±6.7 years. 10 patients died during follow-up (6 in Group A, 4 in Group B). In Group A, 2 patients died of sudden death, 2 patients died in the perioperative setting of aortic surgery, and 2 patients died of an aortic rupture. In Group B, 3 patients died in the perioperative setting of aortic surgery and 1 of an intracranial hemorrhage. The proportions of aortic events during follow-up (death, distal redissection, proximal dissection, distal intervention or aortic root surgery) in both groups are described in Figure 2. Median survival free of reintervention or death (non-related to initial event) was 7.5 years in the overall cohort; 8.2 years in Group A and 2.2 years in Group B (log rank p=0.04) (Figure 2). Conclusions Patients with Marfan syndrome and aortic dissection involving the descending aorta have a poor clinical outcome, with high rates of reintervention, redissection or death. Although Group B required less often surgery during the acute phase, worst survival free of reintervention or death was observed during follow-up. Funding Acknowledgement Type of funding sources: None.

AimsMid-aortic syndrome (MAS) is an uncommon condition characterized by severe narrowing of the abdominal aorta, usually involving visceral and renal arteries. Most patients are asymptomatic and typically present with incidental hypertension which might evolve into end-organ damage if untreated. Our aim was to review 8 new paediatric MAS cases.MethodsA retrospective observational study of all paediatric patients with MAS diagnosis (April 1992-Novembre 2021) was conducted. Patients underwent systematic evaluation (medical and family history; 12-lead electrocardiogram; echocardiogram; angiography and/or computed tomography or magnetic resonance angiography).Results8 paediatric patients with MAS were included. Median age at diagnosis 2.6 [0.2–4.7] years; median follow-up time 8.6 [6.6–10.0] years. 6/8 patients presented with incidental hypertension, 1/8 with heart murmur and 1/8 with heart failure symptoms.All patients were on antihypertensive treatment. 1/8 patients underwent surgery and 7/8 an endovascular treatment. At the end of the study period, among the 6 patients that underwent a successful endovascular procedure, 2 achieved good blood pressure (BP) control, 2 acceptable BP control, 1 stage 1 hypertension and, another, stage 2 hypertension. There was 1 death during follow-up.ConclusionBP monitoring in paediatric patients is crucial for early recognition of MAS. Treatment should be based on the individual clinical characteristics of patients with careful planning of surgical revascularisation, if possible, after adult growth is completed. Our study demonstrates that endovascular treatment might be a good alternative to surgery. Nevertheless, further trials with larger sample size and longer term follow-up are required to determine the best treatment approach.

Aortic aneurysm; Bicuspid aortic valve; Computed tomography Aneurisma aòrtic; Vàlvula aòrtica bicúspide; Tomografia computada Aneurisma aórtico; Válvula aórtica bicúspide; Tomografía computada Multimodality imaging is the basis of the diagnosis, follow-up, and surgical management of bicuspid aortic valve (BAV) patients. Transthoracic echocardiography (TTE) is used in our clinical routine practice as a first line imaging for BAV diagnosis, valvular phenotyping and function, measurement of thoracic aorta, exclusion of other aortic malformations, and for the assessment of complications such are infective endocarditis and aortic. Nevertheless, TTE is less useful if we want to assess accurately other aortic segments such as mid-distal ascending aorta, where computed tomography (CT) and magnetic resonance (CMR) could improve the precision of aorta size measurement by multiplanar reconstructions. A major advantage of CT is its superior spatial resolution, which affords a better definition of valve morphology and calcification, accuracy, and reproducibility of ascending aorta size, and allows for coronary artery assessment. Moreover, CMR offers the opportunity of being able to evaluate aortic functional properties and blood flow patterns. In this setting, new developed sequences such as 4D-flow may provide new parameters to predict events during follow up. The integration of all multimodality information facilitates a comprehensive evaluation of morphologic and dynamic features, stratification of the risk, and therapy guidance of this cohort of patients.

Funding Acknowledgements Type of funding sources: None. Background Mitral annular disjunction (MAD) is a structural abnormality of the mitral annular fibrosus characterized by a separation between the atrial wall-mitral valve junction, and the left ventricular attachment (1,2). It has been associated with mitral valve prolapse (MVP). Limited data is available regarding the impact of the presence of MVP on the evolution of mitral regurgitation in these syndromic entities. Purpose To evaluate the prevalence of MAD, PMV, and the combination of both in patients with syndromic hereditary thoracic aortic disease (HTAD) including Marfan (MFS), Loeys-Dietz (LDS), and vascular Ehlers-Danlos syndromes (vEDS), and its relationship with mitral regurgitation (MR) severity and the need for mitral surgery at the follow-up. Methods Adult patients with syndromic HTAD seen at our specialized unit were retrospectively included. The presence of MAD, MVP, and significant MR at the first echocardiogram were evaluated. Electronic medical records were reviewed to register the need for mitral surgery. The last echocardiogram available was also assessed to evaluate MR progression. Results A total of 295 patients were included (235 MFS, 42 LDS, and 18 vEDS). The mean age at baseline was 39.0+-14.4 and 52.9% were female. MAD was present in 87 (37.0%) of MFS, 6 (14.3 %) of LDS and was not present in vEDS (p< 0.001). MVP was found in 105 (44.7%) of MFS, 6 (14.3%) of LDS and 0 in vEDS (p< 0.001). In MFS, MAD was significantly associated with MVP (p= A second echocardiogram was available in 220 patients at > = 1 year (mean 4.1 +- 1.4 years). Overall, 25 (11.4%) presented significant progression of MR, 0 in the isolated MAD group, 13 (19.4%) in the MAD/MVP group and 6 (20.0%) of the isolated MVP (p = 0.007). After a mean clinical follow-up of 7.5 +- 3.2yrs, 10 patients required mitral surgery (6 prostheses, 4 valvuloplasties). After adjustment for the presence of MVP and time of follow-up, MAD was not associated with progression of MR (p= 0.529) but MVP was (OR 5.2 IC 1.70 - 15.93). Similarly, MVP (OR 5.6 CI 1.23 - 25.86) but not MAD (P= 0.096) was associated with the need for mitral surgery ., Conclusions The prevalence of MAD in syndromic HTAD is high, especially in Marfan syndrome, and absent in vEDS. In this retrospective observational study, the presence of MVP but not MAD was associated with mitral regurgitation evolution and the need for mitral surgery. Abstract Table 1 Abstract Figure 1

Background Heart transplant (HT) remains the last treatment option for patients with non-obstructive hypertrophic cardiomyopathy (HCM) who develop end-stage heart failure (HF). Early identification of patients who may require a HT in the future is crucial in order to advise them, establish the appropriate follow-up and determine the appropriate time to include them in the waiting list. Objectives Our study sought to find predictive factors related with requiring HT during follow-up in patients with HCM. Methods Consecutive patients with HCM referred to a HCM monographic clinic from 2018 to 2020 (HCM controls) and transplanted patients due to HCM in the same tertiary HT hospital since 2003 (cases) were included. Baseline (on the date of HCM diagnosis) and longitudinal data regarding clinical, genetic, ECG and echocardiographic variables were retrospectively evaluated. Follow-up was registered from HCM diagnosis to HT (in cases) or last medical check up (controls). Results A total of 157 patients (24 HCM-HT cases and 133 HCM controls) were included (45±19 yo; 57% male). At the time of MCH diagnosis (Table), cases were significantly younger than controls, were more frequently symptomatic and showed significantly higher BNP levels and more advanced diastolic dysfunction (larger left atrium, higher E/A ratio and lower e'); also, HCM-HT reported more family history and had higher proportion of pathogenic mutations (being MYH7 the most frequently involved). Left ventricular (LV) systolic function was slightly reduced in HCM-HT cases. In contrast, HCM controls were more frequently diagnosed by casual findings or family screening and had more LV outflow tract obstruction at first medical evaluation. LV maximal wall thickness (MWT) did not differ between groups. During a median follow-up since HCM diagnosis of 6.2 years (median follow-up of 8.9 and 7.1 years in cases and controls, respectively), HCM-HT cases presented a higher incidence of sustained ventricular tachycardia or ICD therapy (HR=4.0; CI95%:1.6–10.0 p=0.03) and HF admissions (HR=3.9; CI95%:1.8–8.1 p Conclusions The presence of symptoms in a young non-obstructive HCM patient, along with family history and a pathogenic mutation, should advice clinicians a closer follow-up and early transfer to a HT referral center, especially if associated with diastolic dysfunction and high BNP values. Funding Acknowledgement Type of funding sources: None. Table 1

Background Mitral annular disjunction (MAD) is a structural abnormality of the mitral annular fibrosus characterized by a separation between the atrial wall-mitral valve junction, and the left ventricular attachment (1). It has been associated with mitral valve prolapse (MVP) (2) but also, with arrhythmias and sudden cardiac death (SCD) (3). There is no evidence of its prevalence and clinical significance in patients with syndromic hereditary aortopathies. Purpose To evaluate the prevalence of MAD, PMV, and the combination of both in patients with syndromic hereditary thoracic aortic disease (HTAD) including Marfan (MFS), Loeys-Dietz (LDS) and vascular Ehlers-Danlos syndromes (vEDS), and its relationship with arrhythmias, SCD, mitral regurgitation (MR) severity and the need for mitral surgery at the follow-up. Methods Adult patients with syndromic HTAD seen at our specialized unit were retrospectively included. The presence of MAD, MVP, and significant MR at first echocardiogram were evaluated. Electronic medical records were reviewed to register the occurrence of arrhythmic events and the need of mitral surgery. Last echocardiogram available was also assessed to evaluate MR progression. Results A total of 295 patients were included (235 MFS, 42 LDS and 18 vEDS). Mean age at baseline was 39.0±14.4 and 52.9% were female. MAD was present in 87 (37.0%) of MFS, 6 (14.3%) of LDS and was not present in vEDS (p In MFS, the presence of MAD was significantly associated with MVP (p≤0.001) (Table 1). However, 14 (6.0%) of patients had isolated MAD (Table 2). At baseline, significant MR was observed in 18 (24.7%) of patients with concurrent MAD and MVP and was not present in patients with isolated MAD (Table 2). MVP (OR 16.85 IC 4.43 – 64.07) but not MAD (p=0.607), was associated with significant MR in the multivariate analysis. A second echocardiogram was available in 220 patients at ≥1 year (mean 4.1±1.4 years). Overall, 25 (11.4%) presented significant progression of MR, 0 in the isolated MAD group, 13 (19.4%) in the MAD/MVP group and 6 (20.0%) of the isolated MVP (p=0.007). After a mean clinical follow-up of 7.5±3.2 years, 10 patients required mitral surgery (6 prosthesis, 4 valvuloplasty), 22 (9.4%) presented atrial fibrillation, flutter or supraventricular tachycardia (SVT), and 2 (0.9%) SCD. After adjustment for the presence of MVP and time of follow-up, MAD was not associated with progression of MR (p=0.529) need for mitral surgery (p=0.096), atrial fibrillation-flutter or SVT (p=0.510) nor SCD. (p=0.997). Conclusions The prevalence of MAD in syndromic HTAD is high, especially in Marfan syndrome, and absent in vEDS. In this retrospective observational study, the presence of MAD in Marfan was not associated with mitral regurgitation evolution or arrhythmic events. Funding Acknowledgement Type of funding sources: None. Characteristics of MFS patientsPresence of significant MR by groups.

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 The aorta is a 3D hollow, curvilinear elastic structure whose diseases have life-threatening consequences. Despite much effort has been paid to study aortic diameter, diameter is a poor predictor of events. Conversely, much less is known about aortic curvature, its distribution in the thoracic aorta and the potential impact of risk factors in aneurysms associated with different conditions. Currently, 4D flow magnetic resonance imaging (4D flow CMR) allows to obtain 3D geometry, 4D flow data and regional aortic stiffness. Purpose We aim to study regional aortic curvature in thoracic aorta aneurysms of different aetiologies and define its relationship with established risk factors. Methods One-hundred twenty patients (40 for each group, selected out of prospective cohorts of 156 bicuspid aortic valve – BAV-, 77 Marfan –MFS- and 67 patients with a degenerative aneurysm – TAVdeg-) were matched for age, sex and BSA via propensity score with 40 healthy volunteers (HV). The thoracic aorta was semi-automatically segmented from angiograms and the centreline was computed. Local curvature was assessed at 20 planes covering the thoracic aorta from the sinotubular junction to the proximal descending aorta (DAo) at the level of the pulmonary artery bifurcation. Local curvature was normalized by subject mean thoracic aorta curvature. Length was measured as centreline length. Aortic stiffness was measured in the DAo by pulse wave velocity (PWV). Aneurysm was defined by z-score ≥ 2 using diameters measured by double-oblique cine CMR. Results Matching was successful in all groups with the exception of a residual age difference between HV and TAVdeg. Curvature in HV showed a fairly smooth transition between the straighter ascending aorta (AAo) and DAo to a more curved aortic arch, with a peak in the mid aortic arch (Figure 1A). Conversely, all patients’ groups presented a peak in curvature in the proximal DAo and a decreased local curvature in the aortic arch and mid DAo close to the level of the pulmonary artery. BAV and TAVdeg patients showed also increased curvature in the mid AAo, were dilation is prevalent. Conversely, in the same area MFS showed a reduced curvature and limited prevalence of aneurysm. In the overall population, age, AAo and root diameters, mean blood pressure, DAo PWV and aortic length, all established risk factors for aortic events, were inversely related to curvature in the distal AAo and aortic arch (Figure 1B). Conclusions Aneurysms related to different aetiologies show similar abnormalities in aortic curvature, with limited curvature in the aortic arch and a peak soon after the third supra-aortic vessel. Age, aortic diameter, length, stiffness and blood pressure, all known risk factors, are all related to reduced curvature in the distal ascending aorta and aortic arch. Abstract Figure.

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