Aortic dissection during the perinatal period in women with Marfan-related disorders: a retrospective cohort study using the Japanese Diagnosis Procedure Combination database.

Refinement of Connective Tissue Disorder Diagnosis From Marfan to Loeys-Dietz Syndrome Type 4-End of a 30-Year Diagnostic Odyssey.

Severe renovascular hypertension in an infant with a SMAD3 gene variant.

The Current State of Endovascular Aortic Repair in Heritable Thoracic Aortic Disease.

Arteriopathies: Too big to be true.

Pregnancy-Related Vascular Outcomes in Loeys-Dietz Syndrome: A Retrospective Cohort Study and Case Series.

Genetic testing in thoracic aortic disease: diagnostic performance of the 2024 ESC algorithm.

Contemporary Outcomes of Thoracic Endovascular Aortic Repair in Patients with Syndromic Genetic Aortopathy: A Multi-Centre National Study.

A personalized home-based exercise training program in children with Marfan and Loeys-Dietz syndromes improves aerobic exercise capacity and health-related quality of life.

Development of a zebrafish model of Loeys-Dietz syndrome through tgfbr2b knockdown.

Diastolic Function and Left Atrial Mechanics in Children With Marfan and Loeys-Dietz Syndrome.

Bronchiolo-arterial fistula management in a patient with Loeys-Dietz syndrome using a multidisciplinary approach.

Variability, asymmetry and sexual dimorphism in craniofacial anomalies in Loeys-Dietz syndrome 2: geometric morphometric analysis in mice.

Spinal Pathologies Associated With Loeys-Dietz Syndrome: A Systematic Review.

Pulmonary Vascular Abnormalities and Spontaneous Pneumothorax in Loeys-Dietz Syndrome.

Integrated imaging and cellular bioenergetic profiling of the aorta in a patient with Loeys-Dietz syndrome.

Adalimumab-responsive Monogenic Inflammatory Bowel Disease With Pseudopolyposis Characteristic of TGFBR2 Variant in Loeys-Dietz Syndrome.

Single-Incision Double Thoracotomy for Open Thoracoabdominal Aortic Aneurysm Repair: Case Report and New Technique.

Type B Aortic Dissection in Patients Aged 30 Years or Younger: A Retrospective Multicentre Study.

Underlying Aortopathies in Pregnancy: Early Detection, Management, and Advanced Planning.

Multidisciplinary Management of Heritable Aortopathy in Pregnancy Complicated by Postpartum Acute Type A Dissection.

Bicuspid Aortic Valve in Heritable Thoracic Aortic Disease: Insights from the Montalcino Aortic Consortium.

Non-oncology orphan drug development: Productivity and probability of success.

From Spine to Syndrome: Incidental Spine MRI Red Flags Leading to PMEPA1-Related Loeys-Dietz Syndrome.

Mitral Annular Disjunction in Pediatric Loeys-Dietz Syndrome: A Step Toward Deep Phenotyping.

Hybrid prosthesis in frozen elephant trunk procedures for hereditary thoracic aortic diseases: a 14-year single-aortic center experience.

Successful Application of TEVAR With a Vascular Plug for Treatment of Pseudoaneurysm in Ascending Aorta.

Smooth Muscle Cell-Specific TGFβ2 Protects Against Thoracic Aortic Aneurysm and Dissection in Mice.

Multimodality Imaging for Thoracic Aortic Aneurysms.

Valve Sparing Aortic Root Replacement in Loeys-Dietz Syndrome Type II: Is It Ever Too Early?

A Novel Mutation of TGFB2 Gene Responsible of Loeys-Dietz 4 Syndrome.

Loeys-Dietz Syndrome Presenting as Hemorrhage From Arteriobiliary Fistula: Endoscopic Management of Hemostasis.

The Burden of Cardiac Arrhythmias in Loeys-Dietz Syndrome: Prevalence, Etiology, and Therapeutic Interventions.

A genotype to phenotype relationship of exudative vitreoretinopathy in Loeys-Dietz syndrome due to a pathogenic variant in TGFBR2.

Open Repair of Isolated Internal Iliac Artery Aneurysm in a Young Patient With Loeys-Dietz Syndrome.

Pathologies of the cervical spine in skeletal syndromes and dysplasias.

Unmasking Loeys-Dietz Syndrome: The Clinical Significance of a Bifid Uvula.

Single cell analysis identifies a distinct population of fibroblasts that mediate increased cell-cell communication in murine aortopathy of Loeys-Dietz syndrome.

Late Loeys-Dietz Syndrome Diagnosis in an Adolescent With Severe Phenotype.

Loeys-Dietz syndrome subtypes exhibit distinct clinical behavior and aortic cellular transcriptomic profiles.

Mitral annular disjunction distance is associated with adverse outcomes in children and young adults with connective tissue disorders.

Exploring patient experiences of pain fatigue and physical activity in syndromic heritable thoracic aortic disease using mixed methods.

Postoperative Outcomes and Valvular Involvement in Loeys-Dietz Syndrome: A Multicenter Cohort Study of Surgical Risk and Complications.

Loeys-Dietz Syndrome and Asthma: Pathophysiological Insights and Clinical Dilemmas.

Outcomes of fenestrated-branched endovascular aortic repair of thoracoabdominal aortic aneurysms in patients with heritable thoracic aortic diseases.

Rapid Development of an Internal Mammary Artery Aneurysm in a Patient with Loeys-Dietz Syndrome.

Aortic Valve-Sparing Root Operation in Patients With Marfan and Loeys-Dietz Syndrome.

Neurovascular complications in Loeys-Dietz syndrome: a comprehensive systematic review and case report.

Personalized external aortic root support: The Dutch experience.

Pediatric David procedure for aneurysmally dilated ascending aorta in Loeys-Dietz syndrome.

Loss of function variants in ADAMTS6 : Connective tissue, Heart defect, thoracic Aortic aneurysm and Neuro developmental Syndrome (CHANS).

Loeys-Dietz syndrome 3 causing vertebral artery dissections with posterior circulation strokes.

Connective tissue disorder and high risk pregnancy: a case series with personalised external aortic root support (PEARS).

Decoding clinical diversity in monogenic TGFBR1 and TGFBR2 mutations: insights into the interplay of molecular mechanisms and hypomorphicity.

Management of the aortic arch in patients with syndromic heritable thoracic aortic disease.

Pregnancy outcomes in women with heritable thoracic aortic disease: data from the EORP ESC registry of pregnancy and cardiac disease (ROPAC) III.

[Clinical and genetic analysis of a patient with Loeys-Dietz syndrome caused by a SMAD3 gene variant].

Arterial Events in Vascular Ehlers-Danlos, Loeys-Dietz, and Marfan Syndromes: Moving Closer to Personalized Surveillance Imaging.

Differences in Arterial Events in Vascular Ehlers-Danlos, Loeys-Dietz, and Marfan Syndrome.

Arterial Aneurysms in Loeys-Dietz Syndrome: Building Knowledge for Better Care.

Characterization of Arterial Aneurysms in Loeys-Dietz Syndrome.

Cytogenetic anomalies are the predominant genetic alteration in children with nonfamilial tall stature: a comparative study with familial cases.

Defective Mitochondrial Respiration in Hereditary Thoracic Aneurysms.

Endovascular Treatment of Direct Carotid-Cavernous Fistula in a Patient with Loeys-Dietz Syndrome.

Sex-based differences in patients with Loeys-Dietz syndrome: An analysis of arteriopathies and surgical interventions.

Angiosarcoma Beneath a Bleeding Aneurysmal Veil.

Diagnosis of skeletal fragility due to Loeys-Dietz syndrome and treatment with romosozumab followed by denosumab.

Ocular Findings as the Most Striking Manifestation of a SMAD3 Variant.

A patient with Loeys-Dietz syndrome double-seropositive for antiglomerular basement membrane and antineutrophil cytoplasmic antibodies.

Endoscopic management of pancreatic and biliary duct stenoses due to a giant pseudoaneurysm in a patient clinically suggestive of Loeys-Dietz syndrome.

Prenatal Detection of TGFBR1 Variant Associated With Severe Ventriculomegaly and Loeys-Dietz Syndrome.

Sex differences in patterns of cardiovascular referral in patients with Marfan, Ehlers-Danlos, and Loeys-Dietz syndromes.

Takotsubo syndrome following mitral valve surgery in a paediatric patient: a case report.

Genotype-Phenotype Correlation Insights Through Molecular Modeling Analysis in a Patient with Loeys-Dietz Syndrome.

Mitochondrial Dysfunction: A New Hallmark in Hereditable Thoracic Aortic Aneurysm Development.

Management of non-healing sternotomy wounds in Loeys-Dietz syndrome.

Distinctive Amelogenesis Imperfecta in Loeys-Dietz Syndrome Type II.

Aortic root dilatation and mitral valve prolapse in three siblings with dental anomalies and short stature syndrome due to a homozygous novel LTBP3 variant.

NOTCH3 -Related Lateral Meningocele Syndrome Presenting as Radiological Copenhagen Syndrome.

[Marfan syndrome and related disorders].

Splenic Artery Aneurysm and a Giant Gallbladder in Loeys-Dietz Syndrome.

Transforming growth factor, beta-2 gene mutation causes autosomal dominant Camurati-Engelmann disease, type 2 (OMIM % 606631).

Rare genetic variants in PKD1 and SMAD2 are associated with intracranial aneurysms in the general population.

Thoracic Aortic Aneurysm Growth Rates and Predicting Factors: A Systematic Review and Meta-Analysis.

Hyper IgE Syndromes: Understanding, Management, and Future Perspectives: A Narrative Review.

Genetic factors and management strategies in aortic health: a literature review of inherited aortopathy.

Chemokine (C-C Motif) Ligand 2 Expressing Adventitial Fibroblast Expansion During Loeys-Dietz Syndrome Aortic Aneurysm Formation.

The natural history of protrusio acetabuli in Marfan syndrome and other hereditary connective tissue disorders: a 10-year follow-up CT study.

Intensive physical training in children with heritable connective tissue disorders is feasible and safe: a pilot study.

Regulation of Joint Tissues and Joint Function: Is There Potential for Lessons to Be Learned Regarding Regulatory Control from Joint Hypermobility Syndromes?

Identification of TGFBR1 Gene Variants in Two Chinese Pedigrees with Loeys-Dietz Syndrome.

Multiple Self-Healing Squamous Epithelioma and Loeys-Dietz syndrome: a single TGFBR1 variant, two phenotypes in one patient.

Three-Dimensional Curvature of the Cervical Carotid Artery Predicts Long-Term Neurovascular Risk in Loeys-Dietz Syndrome.

Transseptal approach for pseudoaneurysms at the aortic root in Loeys-Dietz syndrome.

A novel TGFBR2 mutation causes Loeys-Dietz syndrome in a Chinese infant: A case report.

Generation of two induced pluripotent stem cell lines from Loeys-Dietz syndrome patients carrying heterologous mutation of TGFBR1.

Editor's Choice - A European Delphi Consensus on the Management of Abdominal Aortic Aneurysms in Patients with Heritable Aortic Diseases.

Case Report: Efficacy and safety of recombinant growth hormone therapy in a girl with Loeys-Dietz syndrome.

Unveiling type B aortic dissection in Loeys-Dietz syndrome by transthoracic echocardiography: back to the root.

Quality of life in people with syndromic heritable thoracic aortic disease and their relatives: a qualitative interview based study.

Case studies in heritable vascular disease: Proceedings of the UTHealth Houston Multidisciplinary Aortic Conference.

Novel variant alters splicing of TGFB2 in family with features of Loeys-Dietz syndrome.

Loeys-Dietz Syndrome Presenting with an Abdominal Aortic Aneurysm: A Case Report.

Cardiovascular complications in vascular connective tissue disorders after COVID-19 infection and vaccination.

Comprehensive Genetic Testing for Coexisting Marfan and Loeys-Dietz Syndromes in Hereditary Thoracic Aortic Disease.

Ehlers-Danlos Syndromes and Related Disorders: Diagnostic Challenges and the Need for an Interdisciplinary Patient Care in Germany.

Aortic and arterial manifestations and clinical features in TGFB3-related heritable thoracic aortic disease: results from the Montalcino Aortic Consortium.

Shprintzen - Goldberg syndrome without intellectual disability: A clinical report and review of literature.

Co-occurrence of Loeys-Dietz syndrome with postural orthostatic tachycardia syndrome: A case series.

Rapid Aneurysmal Degeneration and Repair of Thoracic Aortic Aneurysm in a Patient with Concomitant Vascular Ehlers-Danlos and Loeys-Dietz Syndromes.

Intrinsic GATA4 expression sensitizes the aortic root to dilation in a Loeys-Dietz syndrome mouse model.

Diagnostic yield and therapeutic implications of 25 years of specialized pediatric Marfan clinic.

Variations in echocardiographic findings in patients with Loeys-Dietz syndrome type 4 with 2 types of variant mutations in TGFB.

Beyond the root: Geometric characterization for the diagnosis of syndromic heritable thoracic aortic diseases.

Utilization of percutaneous closure devices for large bore arterial access in patients with genetic aortopathy does not result in increased rates of access site complications.

Whole aorta imaging shows increased risk for thoracic aortic aneurysms and dilatations in relatives of abdominal aortic aneurysm patients.

Identification of Genetic Variants Associated with Hereditary Thoracic Aortic Diseases (HTADs) Using Next Generation Sequencing (NGS) Technology and Genotype-Phenotype Correlations.

Two-staged repair of a giant iliac aneurysm and open repair of a true deep femoral artery aneurysm in Loeys-Dietz syndrome type V: a case report and review of literature.

Fragile Arteries in Loeys-Dietz Syndrome.

Mitral Annular Disjunction in Heritable Thoracic Aortic Disease: Insights From the Montalcino Aortic Consortium.

Genetic variants in patients with multiple arterial aneurysms.

Rapid identification of primary atopic disorders (PAD) by a clinical landmark-guided, upfront use of genomic sequencing.

A familial case of aortic dilatation with p.Tyr470Cys in TGFBR2 in which the phenotype included only vascular lesions.

Exercise, Sports Participation, and Quality of Life in Young Patients with Heritable Thoracic Aortic Disease.

Successful Open Repair of a Thoracoabdominal Aortic Aneurysm After Multiple Failed Endovascular Treatments in a 22-Years-Old Individual With Loeys-Dietz Syndrome.

Thoracoabdominal aortic replacement in a 6-year-old boy with Loeys-Dietz syndrome.

Open Surgical Repair in a Patient With Loeys-Dietz Syndrome and Extensive Vascular Compromise: A Case Report and Literature Review.

Impact of early diagnosis on surgical outcomes in patients with Loeys-Dietz syndrome.

Impact of valve-sparing aortic root replacement on aortic fluid dynamics and biomechanics in patients with syndromic heritable thoracic aortic disease.

Like Father like Daughter: Surgical Redo Thoracoabdominal Aneurysm Repairs in a Family With Loeys-Dietz Syndrome.

Temporal Pattern Analysis of Ultrasound Surveillance Data in Vascular Connective Tissue Disorders.

Acute Transverse Myelitis in a Patient With Type 2 Loeys-Dietz Syndrome: A Report of a Rare Case From India.

Management of an elderly patient with nonsyndromic TGFBR1-related aortopathy: A case report.

Cardiovascular Management of Aortopathy in Children: A Scientific Statement From the American Heart Association.

Engineered vascular grafts lend unique insight to pathophysiology of aortic aneurysms.

Assessment of extra-coronary peripheral arteriopathy in spontaneous coronary dissection: state of the art in non-invasive imaging techniques and future perspectives.

Giant Morgagni hernia and aorto-pulmonary collaterals in a Loeys-Dietz patient undergoing surgery for aortic root aneurysm and mitral valve prolapse.

Marfan and Loeys-Dietz aortic phenotype: A potential tool for diagnosis and management.

Endovascular fenestration and stenting for renovisceral malperfusion in a pediatric patient with type II Loeys-Dietz syndrome.

Multidisciplinary hybrid approach to management of a thoracoabdominal aneurysm in a patient with both Loeys-Dietz and vascular Ehlers-Danlos syndrome.

Acute Primary Small Bowel Volvulus in a Male With Loeys-Dietz Syndrome.

Aortopathy - A surgical pathology experience.

Innovation in pathogenesis and management of aortic aneurysm.

Major Complication Caused by Inguinal Hernia Recurrence After Percutaneous Internal Ring Suturing Procedure in a Patient With Loeys-Dietz Syndrome: A Case Report.

Atypical type A aortic dissection caused by Loeys-Dietz syndrome with a novel mutation in TGFBR2: Report of a rare case.

Hereditary Aortic Aneurysms and Dissections: Clinical Diagnosis and Genetic Testing.

Validating a Curvature-Based Marker of Cervical Carotid Tortuosity for Risk Assessment in Heritable Aortopathies.

Delayed diagnosis of Loeys-Dietz syndrome revealed through atrial septal defect with pulmonary artery dilation.

Impact of Genotype-Phenotype Interactions on Cardiovascular Function in Paediatric Loeys-Dietz Syndrome.

Personalizing Aortic Surveillance in Paediatric Loeys-Dietz Syndrome.

National registry insights on genetic aortopathies and thoracic endovascular aortic interventions.

Bioengineered vascular grafts with a pathogenic TGFBR1 variant model aneurysm formation in vivo and reveal underlying collagen defects.

Unraveling the genetic collagen connection: clinical and therapeutic insights on genetic connective tissue disorders.

Functional analysis of cell lines derived from SMAD3-related Loeys-Dietz syndrome patients provides insights into genotype-phenotype relation.

New treatment paradigm for patients with Marfan or Loyes-Dietz syndrome.

Pelvic Floor Dysfunction Among Persons With Marfan and Loeys-Dietz Syndrome.

Cardiovascular pathology, inheritance and prognosis in a familial cohort of Loeys-Dietz type III.

The Impact of Pregnancy in Patients with Thoracic Aortic Disease: Epidemiology, Risk Assessment, and Management Considerations.

Loeys-Dietz syndrome with a novel in-frame SMAD3 deletion diagnosed as a result of postpartum aortic dissection: A case report.

Loeys-Dietz syndrome and Goldenhar syndrome unveiled together.

Physical fitness in children with Marfan and Loeys-Dietz syndrome: associations between cardiovascular parameters, systemic manifestations, fatigue, and pain.

Cardiovascular and obstetrical outcomes among delivering patients with Marfan or Loeys-Dietz syndrome: a retrospective analysis by hospital delivery setting.

Diameter and dissection of the abdominal aorta and the risk of distal aortic reoperation after surgery for type A aortic dissection.

Endovascular aortic repair in patients with Marfan and Loeys-Dietz syndrome is safe and durable when employed by a multi-disciplinary aortic team.

Outcomes of complex abdominal wall reconstruction in patients with connective tissue disorders: a single center experience.

Echogenomics: Echocardiography in Heritable Aortopathies.

Loeys-Dietz syndrome with concomitant aplastic anemia.

TGFβ prevents IgE-mediated allergic disease by restraining T follicular helper 2 differentiation.

Familial visceral branch artery aneurysms in Loeys-Dietz syndrome.

Diagnosis and treatment of cardiovascular disease in patients with heritable connective tissue disorders or heritable thoracic aortic diseases.

Salvaging From Limb Amputation in an Acute Complicated Type B Aortic Dissection Patient.

Coexistence of multiple self-healing squamous epithelioma and features of Loeys-Dietz syndrome caused by a pathogenic missense variant in the kinase domain of TGFBR1.

Total arch replacement using frozen elephant trunk and repair of bilateral subclavian artery aneurysms in a patient with type 2 Loeys-Dietz syndrome.

Hybrid repair of a thoracoabdominal aortic aneurysm in female patient with Loeys-Dietz syndrome.

A rare presentation of asymmetric limb hypertrophy and diffuse capillary malformations in a pediatric patient with Loeys-Dietz syndrome type 3.

Arterial tortuosity index, a promising imaging marker for early detection of Loeys-Dietz syndrome.

[Clinical and genetic analysis of a patient with Loeys-Dietz syndrome due to variant of TGFBR2 gene].

Unexplained Cardiovascular Collapse After Scoliosis Surgery in a Patient With Loeys-Dietz Syndrome.

Natural history and growth rate of intracranial aneurysms in Loeys-Dietz syndrome: implications for treatment.

[Depressive and anxiety symptoms in hereditary connective tissue disorders : case description and systematic literature review].

Iatrogenic aortic dissection during aortic root replacement in an older Loeys-Dietz syndrome type III patient with no family history of aortic disease: a case report.

Arterial tortuosity in pediatric Loeys-Dietz syndrome patients.

Recurrent Infective Endocarditis in an Adolescent due to Streptococcus agalactiae: A Rare Presentation of a Common Pathogen.

Valve-sparing root replacement in children with connective tissue disease: Long-term risk of aortic events.

Pediatric Bentall procedure for giant ascending aortic aneurysm in Loeys-Dietz syndrome.

Spondyloptosis in Loeys-Dietz syndrome.

A novel pathogenic variant located just upstream of the C-terminal Ser423-X-Ser425 phosphorylation motif in SMAD3 causing Loeys-Dietz syndrome.

Cardiovascular involvement and prognosis in Loeys-Dietz syndrome.

Patterns of genetic mutations explored by systematic screening of patients with aortopathy and their family members.

Vertebral Tortuosity Is Associated With Increased Rate of Cardiovascular Events in Vascular Ehlers-Danlos Syndrome.

Evaluating Variation in the Cardiac Management of Children with Hereditary Thoracic Aortic Disease in the United States.

Surgical Treatment of Cervical Kyphosis and Atlantoaxial Dislocation in a Child With Loeys-Dietz Syndrome: A Case Report and Literature Review.

Variable clinical expression of a Belgian TGFB3 founder variant suggests the presence of a genetic modifier.

Arterial Tortuosity Syndrome: Unraveling a Rare Vascular Disorder.

Anesthetic management of a child with Loeys-Dietz syndrome undergoing complete aortic arch replacement.

[Clinical and genetic characteristics of 12 cases of Loeys-Dietz syndrome].

David V procedure and hemiarch replacement in a patient with Loeys-Dietz-Syndrome and beta thalassemia minor: a case report.

Genetic Basis, New Diagnostic Approaches, and Updated Therapeutic Strategies of the Syndromic Aortic Diseases: Marfan, Loeys-Dietz, and Vascular Ehlers-Danlos Syndrome.