Vascular Ehlers-Danlos syndrome (vEDS) is a rare genetic connective tissue disorder secondary to pathogenic variants within the COL3A1 gene, resulting in exceptional arterial and organ fragility and ...premature death. The only published clinical trial to date demonstrated the benefit of celiprolol on arterial morbimortality.
The authors herein describe the outcomes of a large cohort of vEDS patients followed ≤17 years in a single national referral center.
All patients with molecularly confirmed vEDS were included in a retrospective cohort study. After an initial work-up, patients were treated or recommended for treatment with celiprolol (≤400 mg/day) in addition to usual care and scheduled for yearly follow-up. vEDS-related events and deaths were collected and recorded for each patient.
Between 2000 and 2017, 144 patients (median age at diagnosis 34.5 years, 91 probands) were included in this study. After a median follow-up of 5.3 years, overall patient survival was high (71.6%; 95% confidence interval: 50% to 90%) and dependent on the type of COL3A1 variant, age at diagnosis, and medical treatment. At the end of the study period, almost all patients (90.3%) were treated with celiprolol alone or in combination. More than two-thirds of patients remained clinically silent, despite a large number (51%) with previous arterial events or arterial lesions at molecular diagnosis. Patients treated with celiprolol had a better survival than others (p = 0.0004). The observed reduction in mortality was dose-dependent: the best protection was observed at the dose of 400 mg/day versus <400 mg/day (p = 0.003). During the period surveyed, the authors observed a statistically significant difference in the ratio of hospitalizations for acute arterial events/hospitalizations for regular follow-up before and after 2011.
In this long-term survey, vEDS patients exhibited a low annual occurrence of arterial complications and a high survival rate, on which the overall medical care seems to have a positive influence.
Age-Related Changes in Aortic Arch Geometry Redheuil, Alban, MD, PhD; Yu, Wen-Chung, MD; Mousseaux, Elie, MD, PhD ...
Journal of the American College of Cardiology,
09/2011, Volume:
58, Issue:
12
Journal Article
Peer reviewed
Open access
Objectives We sought to define age-related geometric changes of the aortic arch and determine their relationship to central aortic stiffness and left ventricular (LV) remodeling. Background The ...proximal aorta has been shown to thicken, enlarge in diameter, and lengthen with aging in humans. However, no systematic study has described age-related longitudinal and transversal remodeling of the aortic arch and their relationship with LV mass and remodeling. Methods We studied 100 subjects (55 women, 45 men, average age 46 ± 16 years) free of overt cardiovascular disease using magnetic resonance imaging to determine aortic arch geometry (length, diameters, height, width, and curvature), aortic arch function (local aortic distensibility and arch pulse wave velocity PWV), and LV volumes and mass. Radial tonometry was used to calculate central blood pressure. Results Aortic diameters and arch length increased significantly with age. The ascending aorta length increased most, with age leading to aortic arch widening and decreased curvature. These geometric changes of the aortic arch were significantly related to decreased ascending aortic distensibility, increased aortic arch PWV (p < 0.001), and increased central blood pressures (p < 0.001). Increased ascending aortic diameter, lengthening, and decreased curvature of the aortic arch (unfolding) were all significantly associated with increased LV mass and concentric remodeling independently of age, sex, body size, and central blood pressure (p < 0.01). Conclusions Age-related unfolding of the aortic arch is related to increased proximal aortic stiffness in individuals without cardiovascular disease and associated with increased LV mass and mass-to-volume ratio independent of age, body size, central pressure, and cardiovascular risk factors.
Functional abnormalities of the ascending aorta (AA) have been mainly reported in young patients who underwent arterial switch operation (ASO) for transposition of the great arteries (TGA).
To ...compare systolic, diastolic brachial and central blood pressures (bSBP, bDBP, cSBP, cDBP), aortic biomechanical parameters, and left ventricular (LV) afterload criteria in adult ASO patients with healthy controls and to assess their relationships with LV remodeling and aortic size.
Forty-one prospectively enrolled patients (16.8 to 35.8 years) and 41 age- and sex-matched healthy volunteers underwent cardiac MRI to assess LV remodeling with simultaneous brachial BP estimation. After MRI, carotid-femoral tonometry was performed to measure pulse wave velocity (cfPWV), cSBP and cDBP for further calculation of pulse pressure (cPP), AA distensibility (AAD), and AA and LV elastance (AAE, LVE).
bSBP, bDBP, cSBP,cDBP and cPP were all significantly higher in ASO group than in controls: cSBP (116.5 ± 13.8 vs 106.1 ± 12.0, p < 0.001), cDBP (72.5 ± 6.9 vs 67.1 ± 9.4, p = 0.002), cPP (44.0 ± 12.1 vs 39.1 ± 8.9, p = 0.003) and not related to aortic size. AAD were decreased in ASO patients vs controls (4.70 ± 2.72 vs 6.69 ± 2.16, p < 0.001).
LV mass was correlated with bSBP, cSBP, cPP (ρ = 0.48; p < 0.001), while concentric LV remodeling was correlated with AAE (ρ = 0.60, p < 0.001) and LVE (ρ = 0.32, p = 0.04), but not with distensibility.
Even without reaching arterial hypertension, aortic sBP and PP are increased in the adult TGA population after ASO, altering the pulsatile components of afterload and contributing to LV concentric remodeling.
•Brachial and central blood pressures were higher in patients after switch operation for TGA than in controls•In ASO patients, brachial or central blood pressures are associated to concentric remodeling of the left ventricle.•Aortic elastance, representing the pulsatile forces opposing flow, was strongly associated to increase LV remodeling.•LV elastance and aortic/LV elastance ratio were similar in ASO and controls, reflecting adaptation to increased LV afterload.
Background
The main complication in adult patients with transposition of the great arteries (TGA) treated by an arterial switch operation (ASO) is neopulmonary outflow tract stenosis (NPOTS). ...However, pulmonary flow velocity measurements cannot always be performed with transthoracic echocardiography (TTE) due to complex anatomical features. 4D flow MRI allows detection, quantification, and location of the obstruction site along the NPOTS.
Purpose and Hypothesis
To investigate the accuracy of 4D flow for the diagnosis of NPOTS in adults with TGA corrected by ASO.
Study Type
Prospective.
Population
Thirty‐three adult patients with TGA treated by ASO (19 men, mean age 25.5 years old).
Field Strength/Sequence
Accelerated 4D flow research sequence at 3T.
Assessment
Maximum NPOTS velocities on TTE and 4D flow MRI done the same day.
Statistical Tests
Pearson correlation coefficient, paired t‐test, and Bland–Altman analysis were used to investigate the relationship between TTE and MRI data.
Results
In 16 patients (48.5%), evaluation of NPOTS anatomy was not obtained by TTE, while it was always possible by 4D flow. Peak flow velocity (PV) measurements in Doppler and 4D flow were highly correlated (r = 0.78; P < 0.001). PV >350 cm.s‐1 was detected in only one patient (3%) by TTE vs. five patients (15%) by 4D flow. Moreover, a high correlation was found between PV and the right ventricle (RV) mass index to body surface area when using 4D flow (r = 0.63; P < 0.001). The location of NPOTS was determined in all patients using 4D flow and concerned the main pulmonary artery in 42%.
Data Conclusion
Compared to TTE, 4D flow MRI provides better sensitivity to detect and locate NPOTS in patients with TGA treated by ASO. 4D flow PV measurements in NPOTS were well correlated with TTE PV and RV mass.
Level of Evidence: 1
Technical Efficacy: Stage 2
J. Magn. Reson. Imaging 2020;51:1699–1705.
To better understand relationship between histological medial degenerative changes (MDC), pathological status thoracic aorta aneurysm (TAA), thoracic aorta dissection (TAD), bicuspid aortic valve ...(BAV), and non-BAV and aortic size at imaging.
We collected 496 ascending aorta surgical specimens from patients with degenerative aortic diseases (mean age, 61 years) whose imaging data were available, including BAV in 191 (TAD 4%, TAA 96%) and with non-BAV in 305 (TAD 45%, TAA 55%). We analyzed them according to the pathology consensus statement and scored MDC elastic fiber fragmentation and/or loss (EFFL); smooth muscle nuclei loss (SMNL); mucoid extracellular matrix accumulation (MEMA), intralamellar (I) or translamellar (T) and measured medial wall thickness on correlation with imaging data and the status (TAA, TAD, BAV, or non-BAV). In TAA subset, EFFL, SMNL and MEMA-T scores were lower in BAV than in non-BAV. In relation to the aortic diameter, EFFL, SMNL and MEMA-T scores were more important in TAD subset than in TAA at the small aortic diameters. Independent predictors of aortic dissection included thicker medial wall (odds ratio OR, 6.3; 95% confidence interval CI, 2.4 to 17.6; p < 0.0001) and greater SMNL score (OR, 1.2; 95% CI, 1.1 to 1.3; p = 0.003).
This large cohort study confirms that non-BAV aortas present higher MDC scores than BAV aortas. Higher MDC scores are correlated with increased aortic diameter. TAD can occur not infrequently in smaller aortas associated with high MDC scores. This suggests that risk stratification of aortic dissection based on aorta dimensions is imperfect.
•Non-BAV aortopathies are associated with higher medial degeneration changes than BAV aortopathies.•Higher medial degeneration changes are correlated with increased aortic diameter in the ascending aorta diseases.•In small aortic diameters below threshold for surgery high medial degeneration changes are observed in aortic dissection.
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