ABSTRACT
BACKGROUND: Cervical arterial tortuosity is associated with adverse outcomes in Loeys-Dietz syndrome and other heritable aortopathies. METHODS AND RESULTS: A method to assess tortuosity based on curvature of the vessel centerline in 3-dimensional space was developed. We measured cervical carotid tortuosity in 65 patients with Loeys-Dietz syndrome from baseline computed tomography angiogram/magnetic resonance angiogram and all serial images during follow-up. Relations between baseline carotid tortuosity, age, aortic root diameter, and its change over time were compared. Patients with unoperated aortic roots were assessed for clinical end point (type A aortic dissection or aortic root surgery during 4 years of follow-up). Logistic regression was performed to assess the likelihood of clinical end point according to baseline carotid tortuosity. Total absolute curvature at baseline was 11.13±5.76 and was relatively unchanged at 8 to 10 years (fold change: 0.026±0.298, P=1.00), whereas tortuosity index at baseline was 0.262±0.131, with greater variability at 8 to 10 years (fold change: 0.302±0.656, P=0.818). Baseline total absolute curvature correlated with aortic root diameter (r=0.456, P=0.004) and was independently associated with aortic events during the 4-year follow-up (adjusted odds ratio [OR], 2.64 [95% CI, 1.02-6.85]). Baseline tortuosity index correlated with age (r=0.532, P<0.001) and was not associated with events (adjusted OR, 1.88 [95% CI, 0.79-4.51]). Finally, baseline total absolute curvature had good discrimination of 4-year outcomes (area under the curve=0.724, P=0.014), which may be prognostic or predictive. CONCLUSIONS: Here we introduce cervical carotid tortuosity as a promising quantitative biomarker with validated, standardized characteristics. Specifically, we recommend the adoption of a curvature-based measure, total absolute curvature, for early detection or monitoring of disease progression in Loeys-Dietz syndrome.
Subject(s)
Carotid Arteries , Computed Tomography Angiography , Loeys-Dietz Syndrome , Magnetic Resonance Angiography , Humans , Female , Male , Risk Assessment , Adult , Loeys-Dietz Syndrome/genetics , Loeys-Dietz Syndrome/complications , Loeys-Dietz Syndrome/diagnosis , Loeys-Dietz Syndrome/diagnostic imaging , Middle Aged , Carotid Arteries/diagnostic imaging , Carotid Arteries/pathology , Risk Factors , Young Adult , Predictive Value of Tests , Aortic Dissection/diagnostic imaging , Aortic Dissection/diagnosis , Aortic Dissection/surgery , Vascular Malformations/diagnostic imaging , Vascular Malformations/diagnosis , Imaging, Three-Dimensional , Reproducibility of Results , Skin Diseases, Genetic/genetics , Skin Diseases, Genetic/diagnostic imaging , Skin Diseases, Genetic/diagnosisABSTRACT
BACKGROUND: The purpose of this study was to evaluate mitral annular disjunction (MAD) on cardiac magnetic resonance imaging (MRI) in Loeys-Dietz Syndrome (LDS) and to explore its association with adverse outcomes. METHODS: In this retrospective cohort study, adult patients with LDS who underwent cardiac MRI were evaluated for MAD, aortic dimensions, and ventricular volumetry. Aortic events were defined as aortic surgery and/or dissection and severe arrhythmic events as cardiac arrest or sustained ventricular tachycardia (VT). RESULTS: Among 46 LDS patients (52% female, 37.2 ± 14.3 years), 17 had MAD (37%). MAD and no MAD groups were similar in age, sex, aortic dimensions and left ventricular parameters. After a clinical follow-up of 4.3 years (IQR 1.5-8.4), 3 in MAD and 4 in no MAD groups required aortic valve sparing root replacement (VSRR) and 1 in MAD developed type A dissection. Over a similar imaging follow-up period [4.1 years (IQR 2.7-9.1) vs. 3.2 years (IQR 1.0-9.0), p = 0.65], compared to baseline, increase in native aortic root size was significant only in MAD (39.4 ± 4.6 mm vs. 38.1 ± 5.3 mm, p = 0.02, 19.3 ± 2.4 mm/m2 vs. 18.7 ± 2.4 mm/m2, p = 0.01) compared to those without MAD. Patients with MAD were younger at first aortic event compared to those without (26.7 ± 11.5 years vs. 45.0 ± 14.9 years, p = 0.03). MAD distance correlated with need for VSRR, r = 0.57, p = 0.02. Two patients in the MAD group developed sustained VT. No cardiac arrest or death was observed. CONCLUSION: MAD is highly prevalent in LDS, associated with progressive aortic dilatation, and aortic events at younger age. MAD may be a marker of disease severity necessitating close surveillance.
Subject(s)
Heart Arrest , Loeys-Dietz Syndrome , Adult , Humans , Female , Male , Loeys-Dietz Syndrome/diagnostic imaging , Loeys-Dietz Syndrome/epidemiology , Loeys-Dietz Syndrome/surgery , Prevalence , Retrospective Studies , Patient Acuity , Magnetic Resonance ImagingABSTRACT
OBJECTIVES: Patients with Loeys-Dietz syndrome demonstrate a heightened risk of distal thoracic aortic events after valve-sparing aortic root replacement. This study assesses the clinical risks and hemodynamic consequences of a prophylactic aortic arch replacement strategy in Loeys-Dietz syndrome and characterizes smooth muscle cell phenotype in Loeys-Dietz syndrome aneurysmal and normal-sized downstream aorta. METHODS: Patients with genetically confirmed Loeys-Dietz syndrome (n = 8) underwent prophylactic aortic arch replacement during valve-sparing aortic root replacement. Four-dimensional flow magnetic resonance imaging studies were performed in 4 patients with Loeys-Dietz syndrome (valve-sparing aortic root replacement + arch) and compared with patients with contemporary Marfan syndrome (valve-sparing aortic root replacement only, n = 5) and control patients (without aortopathy, n = 5). Aortic tissues from 4 patients with Loeys-Dietz syndrome and 2 organ donors were processed for anatomically segmented single-cell RNA sequencing and histologic assessment. RESULTS: Patients with Loeys-Dietz syndrome valve-sparing aortic root replacement + arch had no deaths, major morbidity, or aortic events in a median of 2 years follow-up. Four-dimensional magnetic resonance imaging demonstrated altered flow parameters in patients with postoperative aortopathy relative to controls, but no clear deleterious changes due to arch replacement. Integrated analysis of aortic single-cell RNA sequencing data (>49,000 cells) identified a continuum of abnormal smooth muscle cell phenotypic modulation in Loeys-Dietz syndrome defined by reduced contractility and enriched extracellular matrix synthesis, adhesion receptors, and transforming growth factor-beta signaling. These modulated smooth muscle cells populated the Loeys-Dietz syndrome tunica media with gradually reduced density from the overtly aneurysmal root to the nondilated arch. CONCLUSIONS: Patients with Loeys-Dietz syndrome demonstrated excellent surgical outcomes without overt downstream flow or shear stress disturbances after concomitant valve-sparing aortic root replacement + arch operations. Abnormal smooth muscle cell-mediated aortic remodeling occurs within the normal diameter, clinically at-risk Loeys-Dietz syndrome arch segment. These initial clinical and pathophysiologic findings support concomitant arch replacement in Loeys-Dietz syndrome.
Subject(s)
Loeys-Dietz Syndrome , Marfan Syndrome , Humans , Loeys-Dietz Syndrome/complications , Loeys-Dietz Syndrome/diagnostic imaging , Loeys-Dietz Syndrome/surgery , Aorta, Thoracic/diagnostic imaging , Aorta, Thoracic/surgery , Aorta/surgery , Marfan Syndrome/pathology , Vascular Surgical Procedures/methodsABSTRACT
This article described a rare case of atypical aortic dissection in a 7-year-old boy with Loeys-Dietz syndrome, and emergency procedure was performed successfully. The imaging appearance of echocardiography and CT in atypical dissection was described.
Subject(s)
Aortic Dissection , Loeys-Dietz Syndrome , Male , Humans , Child , Loeys-Dietz Syndrome/complications , Loeys-Dietz Syndrome/diagnostic imaging , Aortic Dissection/complications , Aortic Dissection/diagnostic imaging , Aortic Dissection/surgery , EchocardiographyABSTRACT
Background: LDS is an autosomal dominant connective tissue disease. It is a rare multi-systemic disorder with serious vascular impact. Case report: We report a case of a 38-year-old male with Loeys-Dietz syndrome (LDS) suffering from major aortic complications. The disease initially manifested itself as a type A aortic dissection, successfully treated by open ascending aorta replacement. Ten days later, the patient developed an uncomplicated type B dissection. During follow up, the patient became symptomatic in both legs (rest pain) due to major true lumen compression. A thoracic endovascular aortic repair was performed with immediate improvement of the symptoms. During follow up, a computer tomography angiogram, showed a persistence false lumen perfusion and an aortic diameter increase. Multiple additional endovascular procedures and a final open thoracoabdominal aortic replacement were needed to exclude completely the false lumen. Conclusion: Open surgical repair is still the gold standard therapy for patients with connective tissue disease. However, with the nowadays progress, hybrid procedures could be a better option.
Subject(s)
Aortic Aneurysm, Thoracic , Aortic Dissection , Loeys-Dietz Syndrome , Adult , Aortic Dissection/diagnostic imaging , Aortic Dissection/etiology , Aortic Dissection/surgery , Aorta/surgery , Aorta, Thoracic/surgery , Aortic Aneurysm, Thoracic/diagnostic imaging , Aortic Aneurysm, Thoracic/etiology , Aortic Aneurysm, Thoracic/surgery , Humans , Loeys-Dietz Syndrome/complications , Loeys-Dietz Syndrome/diagnostic imaging , Loeys-Dietz Syndrome/surgery , Male , Treatment OutcomeABSTRACT
OBJECTIVE: We present a rare untypical Loeys-Dietz syndrome 1 case in prenatal setting and report a novel mutation in the TGFBR1 gene. CASE REPORT: A pregnant woman came for medical attention due to the fetal ultrasound anomaly. The fetus was found to have short long bones. Trio-based WES was applied to the family. A novel de novo nonsense mutation c.1237C > T was detected in the TGFBR1 gene. A diagnosis of Loeys-Dietz syndrome 1 (LDS1) was plausible, but the fetus did not demonstrate the characteristic phenotype of the syndrome. CONCLUSION: In prenatal setting, fetal phenotypes are difficult to be fully observed, putting stress on the utility of molecular techniques. LDS1 in fetuses could present untypical features such as skeletal dysplasia.
Subject(s)
Codon, Nonsense , Loeys-Dietz Syndrome/genetics , Mutation , Receptor, Transforming Growth Factor-beta Type I/genetics , Adult , Female , Fetus/diagnostic imaging , Humans , Loeys-Dietz Syndrome/diagnostic imaging , Prenatal DiagnosisABSTRACT
The aim of our study was to evaluate the association between intracranial arterial tortuosity and cardiovascular outcome in patients with Loeys-Dietz syndrome (LDS). We performed a retrospective analysis of all patients with genetically confirmed LDS who underwent at least one brain MRA at our institution (n = 32); demographic and clinical features were evaluated in relation to the tortuosity of intracranial arteries as measured by tortuosity index (TI), which was calculated using the formula: [(centerline length) / (straight-line length)-1] × 100. Receiver operating characteristic curve analysis for intracranial TI and the binary end point of aortic surgery showed vertebrobasilar TI (VBTI) to be the best classifier among the examined arterial segments (AUC = 0.822). Patients with higher VBTI showed a greater incidence of aortic surgery (p < 0.001) and underwent more surgical and endovascular procedures (p = 0.006), with a higher rate of operations (p = 0.002). Kaplan-Meier analysis showed a significantly longer surgery-free survival in patients with lower arterial tortuosity (p < 0.001). At multivariate analysis, higher VBTI was associated with an increased risk of surgery (p < 0.001), which was independent of gene mutation and patient age. Increased VBTI is a marker of adverse cardiovascular outcome in patients with LDS, which can be easily measured on brain MRA, and may be useful in the management of this heterogeneous patient population.
Subject(s)
Loeys-Dietz Syndrome , Skin Diseases, Genetic , Arteries/abnormalities , Arteries/diagnostic imaging , Arteries/surgery , Humans , Joint Instability , Loeys-Dietz Syndrome/complications , Loeys-Dietz Syndrome/diagnostic imaging , Loeys-Dietz Syndrome/surgery , Retrospective Studies , Vascular MalformationsABSTRACT
OBJECTIVES: The aim of this study is to report the safety and effectiveness of thoracic endovascular aortic repair (TEVAR) in a native proximal landing zone (PLZ) 2 for chronic type B aortic dissection (TBAD) patients with genetic aortic syndrome (GAS). METHODS: A retrospective review of a single center database to identify patients with GAS treated with TEVAR in native PLZ 2 for chronic TBAD and thoracic false lumen aneurysm between February 2012 and February 2018 was undertaken. RESULTS: In total, 31 patients with GAS (24 Marfan syndrome [MFS], 5 Loeys-Dietz syndrome [LDS], and 2 vascular Ehlers-Danlos syndrome [vEDS]) were treated by endovascular repair. Nineteen patients were treated by TEVAR as index procedures with 8 patients (5 females, mean age = 55, range = 36-79 years old) receiving TEVAR in native PLZ 2. Left subclavian artery (LSA) perfusion was preserved in all 8 patients: by left common carotid artery-LSA bypass in 6 patients, chimney stenting of the LSA in 1 patient, and partial coverage of LSA ostium in 1 patient. Technical success was achieved in all patients (100%). There was no 30 day mortality (0%). The 30 day morbidity (0%) was free from major complications. The median follow-up was 40 months (range = 7-79). One patient died due to non-aortic-related cause. Native PLZ 2 was free from complications in MFS patients (5/8). Two patients with LDS developed type Ia endoleak with aneurysmal progression. One patient was treated by proximal extension with a double inner branched arch stent-graft landing in the replaced ascending aorta. The other one was treated with frozen elephant trunk. CONCLUSION: Thoracic endovascular aortic repair in native PLZ 2 was safe and effective with no early or midterm PLZ complications in patients with MFS with chronic TBAD in this limited series. Native PLZ 2 is not safe in patients with LDS and should only be used in emergencies as a bridging to open repair.
Subject(s)
Aortic Aneurysm, Thoracic , Aortic Dissection , Blood Vessel Prosthesis Implantation , Endovascular Procedures , Loeys-Dietz Syndrome , Adult , Aged , Aortic Dissection/diagnostic imaging , Aortic Dissection/etiology , Aortic Dissection/surgery , Aorta, Thoracic/surgery , Aortic Aneurysm, Thoracic/diagnostic imaging , Aortic Aneurysm, Thoracic/etiology , Aortic Aneurysm, Thoracic/surgery , Blood Vessel Prosthesis , Female , Humans , Loeys-Dietz Syndrome/complications , Loeys-Dietz Syndrome/diagnostic imaging , Loeys-Dietz Syndrome/genetics , Middle Aged , Retrospective Studies , Time Factors , Treatment OutcomeABSTRACT
We report the case of a 2-year-old girl with Loeys-Dietz syndrome complicated by aortic root dilatation and aortic regurgitation. We performed valve-sparing aortic root replacement with reimplantation technique and aortic valve repair using central plication and free-margin reinforcement simultaneously. The postoperative course was uneventful and the latest echocardiography, 5 years after procedure, revealed trivial aortic insufficiency.
Subject(s)
Aortic Valve Insufficiency , Loeys-Dietz Syndrome , Aorta/diagnostic imaging , Aorta/surgery , Aortic Valve/diagnostic imaging , Aortic Valve/surgery , Aortic Valve Insufficiency/diagnostic imaging , Aortic Valve Insufficiency/etiology , Aortic Valve Insufficiency/surgery , Child, Preschool , Female , Humans , Loeys-Dietz Syndrome/complications , Loeys-Dietz Syndrome/diagnostic imaging , Loeys-Dietz Syndrome/surgery , ReplantationSubject(s)
Loeys-Dietz Syndrome , Aorta, Thoracic/diagnostic imaging , Aorta, Thoracic/surgery , Brachiocephalic Trunk/diagnostic imaging , Brachiocephalic Trunk/surgery , Humans , Loeys-Dietz Syndrome/complications , Loeys-Dietz Syndrome/diagnostic imaging , Loeys-Dietz Syndrome/surgery , Postoperative Period , ReplantationABSTRACT
AIMS: To assess aortic flow and stiffness in patients with Loeys-Dietz syndrome (LDS) by 4D flow and cine cardiovascular magnetic resonance (CMR) and compare the results with those of healthy volunteers (HV) and Marfan syndrome (MFS) patients. METHODS AND RESULTS: Twenty-one LDS and 44 MFS patients with no previous aortic dissection or surgery and 35 HV underwent non-contrast-enhanced 4D flow CMR. In-plane rotational flow (IRF), systolic flow reversal ratio (SFRR), and aortic diameters were obtained at 20 planes from the ascending (AAo) to the proximal descending aorta (DAo). IRF and SFRR were also quantified for aortic regions (proximal and distal AAo, arch and proximal DAo). Peak-systolic wall shear stress (WSS) maps were also estimated. Aortic stiffness was quantified using pulse wave velocity (PWV) and proximal AAo longitudinal strain. Compared to HV, LDS patients had lower rotational flow at the distal AAo (P = 0.002), arch (P = 0.002), and proximal DAo (P < 0.001) even after adjustment for age, stroke volume, and local diameter. LDS patients had higher SFRR in the proximal DAo compared to both HV (P = 0.024) and MFS patients (P = 0.015), even after adjustment for age and local diameter. Axial and circumferential WSS in LDS patients were lower than in HV. AAo circumferential WSS was lower in LDS compared to MFS patients. AAo and DAo PWV and proximal AAo longitudinal strain revealed stiffer aortas in LDS patients compared to HV (P = 0.007, 0.005, and 0.029, respectively) but no differences vs. MFS patients. CONCLUSION: Greater aortic stiffness as well as impaired IRF and WSS were present in LDS patients compared to HV. Conversely, similar aortic stiffness and overlapping aortic flow features were found in Loeys-Dietz and Marfan patients.
Subject(s)
Loeys-Dietz Syndrome , Marfan Syndrome , Vascular Stiffness , Aorta/diagnostic imaging , Aorta/pathology , Healthy Volunteers , Humans , Loeys-Dietz Syndrome/diagnostic imaging , Loeys-Dietz Syndrome/pathology , Marfan Syndrome/diagnostic imaging , Pulse Wave AnalysisABSTRACT
Heritable connective tissue disorders are a group of diseases, each rare, characterized by various combinations of skin, joint, musculoskeletal, organ, and vascular involvement. Although kidney abnormalities have been reported in some connective tissue disorders, they are rarely a presenting feature. Here we present three patients with prominent kidney phenotypes who were found by whole exome sequencing to have variants in established connective tissue genes associated with Loeys-Dietz syndrome and congenital contractural arachnodactyly. These cases highlight the importance of considering connective tissue disease in children presenting with structural kidney disease and also serves to expand the phenotype of Loeys-Dietz syndrome and possibly congenital contractural arachnodactyly to include cystic kidney disease and cystic kidney dysplasia, respectively.
Subject(s)
Arachnodactyly/genetics , Contracture/genetics , Fibrillin-2/genetics , Loeys-Dietz Syndrome/genetics , Receptor, Transforming Growth Factor-beta Type I/genetics , Smad2 Protein/genetics , Adolescent , Arachnodactyly/complications , Arachnodactyly/diagnostic imaging , Arachnodactyly/pathology , Child , Connective Tissue/pathology , Connective Tissue Diseases/complications , Connective Tissue Diseases/diagnostic imaging , Connective Tissue Diseases/genetics , Connective Tissue Diseases/pathology , Contracture/complications , Contracture/diagnostic imaging , Contracture/pathology , Genetic Predisposition to Disease , Humans , Kidney/diagnostic imaging , Kidney/pathology , Kidney Diseases, Cystic/complications , Kidney Diseases, Cystic/genetics , Kidney Diseases, Cystic/pathology , Loeys-Dietz Syndrome/complications , Loeys-Dietz Syndrome/diagnostic imaging , Loeys-Dietz Syndrome/pathology , Male , Mutation/genetics , Phenotype , Skin Abnormalities/complications , Skin Abnormalities/genetics , Skin Abnormalities/pathology , Exome SequencingABSTRACT
A 16-year-old female presented with left iliac fossa pain. In January 2021, she was admitted to her local hospital with severe lower abdominal pain and the pelvic ultrasound demonstrated a 13-cm left internal iliac artery dissecting aneurysm with its partial thrombosis. On examination, she had a high-arched palate, multiple skin stretch marks, flat feet and a soft systolic ejection murmur at the left 5th mid-clavicular line. She had a mildly tender abdomen in the left iliac fossa. Computed tomography angiography demonstrated a 12.2 cm × 10.4 cm × 12.5 cm left internal iliac artery aneurysm. During surgery, the aneurysm was incised and the proximal and distal orifices of the internal iliac artery were ligated. Genetic testing yielded 2 mutations in the SMAD3 gene characteristic for Loeys-Dietz syndrome.
Subject(s)
Aortic Dissection , Iliac Aneurysm , Loeys-Dietz Syndrome , Adolescent , Angiography , Aorta, Abdominal , Female , Humans , Iliac Aneurysm/diagnostic imaging , Iliac Aneurysm/surgery , Iliac Artery , Loeys-Dietz Syndrome/complications , Loeys-Dietz Syndrome/diagnostic imaging , Loeys-Dietz Syndrome/geneticsABSTRACT
PURPOSE: To identify differences in surgical outcomes between patients with transforming growth factor-beta receptor (TGFBR) 1 and TGFBR2 mutations in Loeys-Dietz syndrome (LDS). METHODS: In all, 22 LDS patients between 1998 and 2015 were divided into the two groups: TGFBR1 (n = 11) and TGFBR2 mutation (n = 11). RESULTS: The freedom from aortic reoperation was similar between the two groups (p = 0.19, log-rank). In the subanalysis, the freedom from aortic reoperation was lower in female patients with TGFBR2 mutations (n = 6) than in other patients (p = 0.08). The freedom from aortic dissection (AD) after the initial surgery was also lower in female patients with TGFBR2 mutation than in other patients (p = 0.025). All patients with TGFBR2 mutations revealed grade III cystic medial necrosis (CMN), whereas 67% of patients with TGFBR1 mutations showed CMN (p = 0.033) and only one patient had grade III (p <0.001). CONCLUSION: LDS patients with TGFBR2 mutations had higher grade of CMN than those of TGFBR1 mutations. In particular, in female patients with TGFBR2 mutations, AD after the initial surgery and reoperation were more frequent than those of other LDS patients.
Subject(s)
Aortic Aneurysm, Thoracic/genetics , Blood Vessel Prosthesis Implantation , Cysts/genetics , Loeys-Dietz Syndrome/genetics , Mutation , Receptor, Transforming Growth Factor-beta Type II/genetics , Receptor, Transforming Growth Factor-beta Type I/genetics , Adolescent , Adult , Aortic Aneurysm, Thoracic/diagnostic imaging , Aortic Aneurysm, Thoracic/pathology , Aortic Aneurysm, Thoracic/surgery , Blood Vessel Prosthesis Implantation/adverse effects , Child , Cysts/diagnostic imaging , Cysts/pathology , Cysts/surgery , Female , Genetic Predisposition to Disease , Humans , Loeys-Dietz Syndrome/diagnostic imaging , Loeys-Dietz Syndrome/pathology , Loeys-Dietz Syndrome/surgery , Male , Middle Aged , Phenotype , Reoperation , Retrospective Studies , Treatment Outcome , Young AdultSubject(s)
Aorta/pathology , Aortic Valve Disease/diagnostic imaging , Loeys-Dietz Syndrome/diagnostic imaging , Ultrasonography, Prenatal , Aorta/diagnostic imaging , Aorta/embryology , Aortic Valve Disease/congenital , Aortic Valve Disease/embryology , Dilatation, Pathologic/diagnostic imaging , Dilatation, Pathologic/embryology , Dilatation, Pathologic/genetics , Female , Humans , Live Birth , Loeys-Dietz Syndrome/embryology , Loeys-Dietz Syndrome/genetics , Medical Illustration , Pregnancy , Young AdultABSTRACT
OBJECTIVES: Loeys-Dietz syndrome (LDS) and vascular Ehlers-Danlos Syndrome (vEDS) are genetically heterogeneous heritable disorders of connective tissue. Both are multi-system disorders with dominant vascular pathology and associated gastrointestinal manifestations. AIM: To summarize the abdominal manifestations found in these two disorders in a cohort of patients seen at Mayo Clinic during a period of 25 years. METHODS: Data were collected via the advanced cohort explorer (ACE) of Mayo Clinic records from 1994 to 2018 in patients with vEDS or LDS confirmed by genetic testing and/or medical genetics consultation. We extracted information concerning gastrointestinal symptoms, abdominal hernias, and vascular manifestations or complications. RESULTS: We identified and reviewed records of 68 vEDS and 13 LDS patients. Patients were similar in age at diagnosis and gender distribution. Gastrointestinal symptoms were frequently reported in both disorders and largely similar, although altered bowel function was more prevalent in LDS patients. Hernias were present in similar proportions of patients with vEDS and LDS; however, ventral hernias were more frequent and more likely to be postoperative in vEDS than LDS. LDS patients had more arterial aneurysms overall (76.9% LDS vs. 58% vEDS, p = 0.02) and a higher proportion required arterial repair (69.2% LDS vs. 32.7% vEDS S, p = 0.03). Co-morbidities of autonomic dysfunction, psychopathology (most commonly anxiety, depression, adjustment disorder), and allergy were more prevalent in LDS than vEDS. CONCLUSION: Patients with vEDS and LDS had a propensity for gastrointestinal symptoms, abdominal hernias, and aneurysm formation, but repair for arterial rupture was more prevalent in LDS than EDS.
Subject(s)
Clinical Audit/methods , Ehlers-Danlos Syndrome/diagnostic imaging , Gastrointestinal Diseases/diagnostic imaging , Loeys-Dietz Syndrome/diagnostic imaging , Adolescent , Adult , Cohort Studies , Collagen Type III/genetics , Ehlers-Danlos Syndrome/epidemiology , Ehlers-Danlos Syndrome/genetics , Female , Gastrointestinal Diseases/epidemiology , Gastrointestinal Diseases/genetics , Genetic Variation/genetics , Humans , Loeys-Dietz Syndrome/epidemiology , Loeys-Dietz Syndrome/genetics , Male , Middle Aged , Retrospective Studies , Young AdultABSTRACT
AIMS: We aimed to assess the prevalence of mitral annulus disjunction (MAD) and to explore the association with aortic disease and mitral valve surgery in patients with Marfan syndrome (MFS) and Loeys-Dietz syndrome (LDS). METHODS AND RESULTS: We included consecutive MFS patients fulfilling Revised Ghent Criteria and LDS patients fulfilling Loeys-Dietz Revised Nosology. MAD was identified by echocardiography and was quantified as the longitudinal distance from the ventricular myocardium to the hinge point of the posterior mitral leaflet. Aortic events were defined as aortic dissection or prophylactic aortic surgery. We recorded the need of mitral valve surgery including mitral valve repair or replacement. We included 168 patients (103 with MFS and 65 with LDS). The prevalence of MAD was 41%. MAD was present in all age groups. Aortic events occurred in 112 (67%) patients (27 with dissections and 85 with prophylactic surgical interventions). Patients with MAD were younger at aortic event than those without MAD (log rank = 0.02) Patients with aortic events had greater MAD distance in posterolateral wall [8 (7-10) mm vs. 7 (6-8) mm, P = 0.04]. Mitral events occurred more frequently in patients with MAD (P < 0.001). CONCLUSION: MAD was highly prevalent in patients with MFS and LDS. MAD was a marker of severe disease including aortic events at younger age and need of mitral valve surgery. Screening patients with MFS an LDS for MAD may provide prognostic information and may be relevant in planning surgical intervention. Detection of MAD in patients with MFS and LDS may infer closer clinical follow-up from younger age.