scholarly journals Transarterial coil embolization of an aortic root pseudoaneurym in a patient with Loeys-Dietz syndrome: a case report

2020 ◽  
Vol 3 (1) ◽  
Author(s):  
Robert D’Ortenzio ◽  
Leandro Cardarelli-Leite ◽  
Ravjot Dhatt ◽  
Jacqueline Saw ◽  
Manraj Heran
Keyword(s):  
High Risk ◽  
Connective Tissue ◽  
Aortic Root ◽  
Coil Embolization ◽  
Surgical Intervention ◽  
Connective Tissue Disorder ◽  
Case Presentation ◽  
Standard Management ◽  
Anastomotic Pseudoaneurysm ◽  
Arterial Aneurysms

Abstract Background Loeys-Dietz syndrome (LDS) is a rare autosomal-dominant connective tissue disorder characterized by arterial aneurysms and vascular friability. Surgical intervention for LDS patients carries significant morbidity and mortality. Currently, the standard management of aortic root pseudoaneurysms is surgical intervention. Case presentation A 20 year old male with LDS presented with a progressively enlarging ascending aortic aneurysm. He underwent a Bentall-type aortic root replacement complicated by a 20 mm aortic root anastomotic pseudoaneurysm. Due to the patient’s high risk for repeat surgical intervention, he underwent successful transarterial coil embolization of his aortic root pseudoaneurysm without complication. Conclusions Coil embolization may provide an alternative treatment for patients presenting with aortic root pseudoaneurysm who are high risk for traditional surgical treatment, such as those with connective tissue disease.

Aortic root aneurysm repair in a neonate with Loeys–Dietz syndrome

2021 ◽  
pp. 1-3
Author(s):  
Willa Li ◽  
William Cohen ◽  
Pamela Combs ◽  
Joshua Wong ◽  
Rohit Loomba ◽  
...  
Keyword(s):  
Aortic Aneurysm ◽  
Connective Tissue ◽  
Aortic Root ◽  
Early Onset ◽  
Cardiovascular Events ◽  
Connective Tissue Disorder ◽  
Aortic Root Aneurysm ◽  
Paediatric Patients ◽  
Aortic Repair ◽  
Aneurysm Repair

Abstract Loeys–Dietz syndrome is a connective tissue disorder known to cause aggressive aortopathy in paediatric patients, but it is extremely rare for cardiovascular events to present during infancy. We report the first successful aortic repair in a neonate with LDS presenting in extremis with an early onset, massive aortic aneurysm.

Abstract 17228: Not Just Another Knick In The Wall: An Unusual Case Of Multiple Arterial Aneurysms

Circulation ◽  
2021 ◽  
Vol 144 (Suppl_2) ◽  
Author(s):  
Vibha Amblihalli ◽  
Ayita Ray ◽  
Hafiz Khalid ◽  
luigi pacifico
Keyword(s):  
Subclavian Artery ◽  
Aortic Root ◽  
Left Atrial ◽  
Unusual Case ◽  
Surgical Intervention ◽  
Patch Repair ◽  
Atrial Wall ◽  
Aortic Root Aneurysm ◽  
Left Atrial Wall ◽  
Arterial Aneurysms

Case Presentation: 47-year-old Liberian woman with a history of latent TB and no prior cardiac history presented with dyspnea, palpitations, and weight loss. She had fevers, tachycardia, and cervical lymphadenopathy. Cardiac exam showed widened pulse pressure, systolic and diastolic murmur, and features of heart failure. TTE showed dilated left ventricle with preserved ejection fraction, aortic root aneurysm compressing left atrium, severe aortic and mitral regurgitation, and moderate pericardial effusion with no tamponade. CT angiogram of neck, chest and abdomen showed right subclavian artery mycotic aneurysm, large left supraclavicular lymphadenopathy, multiple aortic arch, and descending thoracic aorta mycotic aneurysms. She underwent emergent surgical intervention. Intraoperative TEE revealed rupture of aortic root aneurysm into left ventricular outflow tract causing a fistula, perforated anterior mitral leaflet, and distortion of the left atrial wall. She underwent mitral and aortic tissue valve replacement, aortic root replacement, and a pericardial patch repair of the left atrial wall. Subsequently, she underwent right subclavian artery aneurysm resection, right carotid axillary bypass, and vertebral artery reimplantation. Aortic valve pathology was suggestive of endocarditis with negative cultures. Lymph node biopsy revealed non-necrotizing granulomatous inflammation with no evidence of acid-fast bacilli, fungi, and malignancy. Autoimmune workup was negative. A PET CT showed post-surgical inflammatory changes with no evidence of malignancy. Discussion: We describe an unusual case of multiple large arterial aneurysms causing severe valvular insufficiency requiring emergent surgical intervention. The patient underwent extensive workup which was unrevealing. She was treated for subacute bacterial endocarditis and suspected Bechet’s disease. Thus, the quest for a definitive diagnosis continues to elude us.

First antenatally confirmed case of arterial tortuosity syndrome

2020 ◽  
Vol 30 (11) ◽  
pp. 1738-1740
Author(s):  
Sakethram Saravu Vijayashankar ◽  
J. A. Gordon Culham ◽  
Shreya Moodley
Keyword(s):  
High Risk ◽  
Connective Tissue ◽  
Autosomal Recessive ◽  
Connective Tissue Disorder ◽  
Antenatal Screening ◽  
Arterial Tree ◽  
Arterial Tortuosity ◽  
First Case ◽  
Arterial Tortuosity Syndrome ◽  
Screening Ultrasound

AbstractArterial tortuosity syndrome (ATS) is a rare, autosomal recessive, connective tissue disorder. It predominantly involves the arterial tree with clinical features reflecting the systems involved. There have been few cases of ATS suspected during antenatal screening ultrasound in high-risk families, but none confirmed. We present the first case of ATS confirmed antenatally in the fetus with cascade testing, detecting the disease in the mother as well.

P6497Loeys-Dietz syndrome-5: phenotypic spectrum of TGFB3 mutations in an international cohort and first report of a homozygous patient

2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
L Marsili ◽  
E Overwater ◽  
N Hanna ◽  
G Baujat ◽  
M J H Baars ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Aortic Root ◽  
Aortic Surgery ◽  
Artery Aneurysm ◽  
Index Patient ◽  
Connective Tissue Disorder ◽  
Aortic Aneurysms ◽  
Aortic Dilatation ◽  
Iliac Artery Aneurysm ◽  
Aortic Root Dilatation

Abstract Background Mutations in TGFB3 cause Loeys-Dietz syndrome-5 (LDS5), an autosomal dominantly inherited connective tissue disorder. LDS5 is characterized by aortic aneurysms and dissections associated with systemic features mainly involving the ocular and skeletal systems. Precise delineation of LDS5 phenotype is difficult because of the small number of identified cases. Purpose The purpose of this study was to further define LDS5 with an emphasis on cardiologic features by describing the genotype and phenotype in an international cohort of patients. Methods We performed a retrospective cross-sectional multicentre study. Genetic testing was performed as a part of standard medical care. Clinical data were collected by means of an anonymized questionnaire, which was sent to the referent physicians. Results Ten (7 novel) TGFB3 mutations were identified in 31 patients (16 index patients). The mean age at last evaluation was 32 years (range 4–60 years). Aortic root dilatation, varices, and mitral valve insufficiency were the most common cardiovascular findings, reported in 28%, 22%, and 21% of patients, respectively. Higher incidences (40%, 29%, and 25%) of these findings were observed in the index patients. Four patients (8%) underwent aortic surgery, all after age 40. Abdominal aortic aneurysms were reported in 2/26 (8%) patients. Extra aortic artery disease included iliac artery aneurysm (one index patient) and tortuosity of the internal carotid and vertebral arteries (one index patient and one relative). The most frequently reported systemic features were high-arched palate, arachnodactyly, pes planus, pectus deformity, and joint hypermobility. Interestingly, we identified an homozygous TGFB3 mutation in a patient who presented with aortic dilatation at age 17, splenic torsion, severe myopia, cleft palate, and other skeletal features. Her heterozygous parents, brother, and sister displayed signs of the disease, but to a milder degree. To the best of our knowledge, this is the first identification of homozygous TGFB3 mutation. Conclusions Our data are in line with previous research, showing that aortic root dilatation is the main cardiovascular feature of LDS5. No deaths related to cardiovascular events were reported in any of the presented families. The cardiovascular phenotype of LDS5 appears to be milder compared to other vascular connective tissue disorder, such as Marfan syndrome, although our findings suggest that homozygosity is associated with a more severe and early-onset phenotype.

Likelihood of Aortic Valve Preservation During Repair of Acute Type A Aortic Dissection

2020 ◽  
pp. 000313482094737
Author(s):  
Rosanne Thornhill ◽  
Wendy Shih ◽  
Marvin I. Amen ◽  
Mohan M. John ◽  
Rosario Floridia ◽  
...  
Keyword(s):  
Aortic Valve ◽  
Connective Tissue ◽  
Aortic Dissection ◽  
Aortic Root ◽  
Type A ◽  
Connective Tissue Disorder ◽  
Acute Type ◽  
Type A Aortic Dissection ◽  
Valve Morphology ◽  
Bicuspid Valve

Background We sought risk factors for replacement of the aortic valve with or without the root (AVR/root) in the setting of acute type A aortic dissection (ATAD) repair. Methods All ATAD repairs at our institution from January 2005 to June 2018 were reviewed. Baseline characteristics were recorded. For patients with aortic valve preservation, we documented the degree of aortic insufficiency (AI) postoperatively and on subsequent echocardiograms when available. Logistic regression was used to determine the association between preoperative characteristics and the odds ratio of AVR/root. Results 206 patients underwent repair of ATAD. Thirty-four were excluded for no documented AI grading. Forty-six underwent AVR/root during repair of the ATAD (including 40 root replacements). Of 126 that did not undergo AVR/root, 42 (33.33%) had follow-up echocardiograms at a median of 68 months postoperatively, 2 required reintervention for valve insufficiency. An increase in the degree of AI, bicuspid valve morphology, size of the aortic root, and connective tissue disorder was significantly associated with increased risk of AVR/root. Of 130 patients without connective tissue disorder, bicuspid aortic valve, aortic root aneurysm or intimal root tear, the rate of valve preservation was 65/65 (100%), 25/29 (86.2%), and 22/40 (55%) for those presenting with mild, moderate, and severe AI, respectively. Conclusion The degree of preoperative AI, bicuspid valve morphology, size of the aortic root, and connective tissue disorder significantly correlate with the failure of aortic valve preservation in patients with ATAD. The vast majority of tricuspid valves in patients without connective tissue disorder or aortic root pathology can be salvaged.

Thumb carpometacarpal arthritis in patients with Ehlers-Danlos Syndrome: non-operative and operative experiences

2018 ◽  
Vol 44 (2) ◽  
pp. 161-166
Author(s):  
Mario Hevesi ◽  
Arif R. Chaudhry ◽  
Eric R. Wagner ◽  
Steven L. Moran
Keyword(s):  
Connective Tissue ◽  
Conservative Therapy ◽  
Surgical Intervention ◽  
Connective Tissue Disorder ◽  
Level Of Evidence ◽  
Ehlers Danlos Syndrome ◽  
Subjective Pain ◽  
Thumb Carpometacarpal ◽  
Danlos Syndrome ◽  
Over Time

Ehlers-Danlos Syndrome is a connective tissue disorder that results in joint and generalized tissue hyperlaxity, predisposing patients to early onset arthritis. An institutional database spanning 1999–2016 was reviewed for all patients with symptomatic carpometacarpal arthritis and coexisting Ehlers-Danlos Syndrome, resulting in 14 thumbs amongst nine patients followed clinically for a median of 5.9 years (range 1–15). Patients managed non-operatively demonstrated stable subjective pain and trended towards decreased range of motion over time, whereas patients managed operatively had significant improvements in pain and trended towards increased grip strength. Our findings suggest that patients with Ehlers-Danlos-associated carpometacarpal arthritis can be successfully managed both operatively and non-operatively and that patients with pain refractory to conservative therapy may benefit from relief and increased hand strength following surgical intervention. Level of evidence: IV

Likelihood of Aortic Valve Preservation During Repair of Acute Type A Aortic Dissection

2020 ◽  
Vol 86 (5) ◽  
pp. 415-421
Author(s):  
Rosanne Thornhill ◽  
Wendy Shih ◽  
Marvin I. Amen ◽  
Mohan M. John ◽  
Rosario Floridia ◽  
...  
Keyword(s):  
Aortic Valve ◽  
Connective Tissue ◽  
Aortic Dissection ◽  
Aortic Root ◽  
Type A ◽  
Connective Tissue Disorder ◽  
Acute Type ◽  
Type A Aortic Dissection ◽  
Valve Morphology ◽  
Bicuspid Valve

Background We sought risk factors for replacement of the aortic valve with or without the root (AVR/root) in the setting of acute type A aortic dissection (ATAD) repair. Methods All ATAD repairs at our institution from January 2005 to June 2018 were reviewed. Baseline characteristics were recorded. For patients with aortic valve preservation we documented the degree of aortic insufficiency (AI) postoperatively and on subsequent echocardiograms when available. Logistic regression was used to determine the association between preoperative characteristics and the odds ratio of AVR/root. Results A total of 206 patients underwent repair of ATAD. Thirty-four were excluded for no documented AI grading. Forty-six underwent AVR/root during repair of the ATAD (including 40 root replacements). Of 126 that did not undergo AVR/root, 42 (33.33%) had follow-up echocardiograms at a median of 68 months postoperatively and 2 required reintervention for valve insufficiency. Increase in degree of AI, bicuspid valve morphology, size of the aortic root, and connective tissue disorder were significantly associated with increased risk of AVR/root. Of 130 patients without connective tissue disorder, bicuspid aortic valve, aortic root aneurysm, or intimal root tear, the rate of valve preservation was 65/65 (100%), 25/29 (86.2%), and 22/40 (55%) for those presenting with mild, moderate, and severe AI, respectively. Discussion Degree of preoperative AI, bicuspid valve morphology, size of the aortic root, and connective tissue disorder significantly correlate with failure of aortic valve preservation in patients with ATAD. The vast majority of tricuspid valves in patients without connective tissue disorder or aortic root pathology can be salvaged.

scholarly journals David valve-sparing aortic root replacement: Equivalent mid-term outcome for different valve types with or without connective tissue disorder

2013 ◽  
Vol 145 (1) ◽  
pp. 117-127.e5 ◽  
Author(s):  
John-Peder Escobar Kvitting ◽  
Fabian A. Kari ◽  
Michael P. Fischbein ◽  
David H. Liang ◽  
Anne-Sophie Beraud ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Aortic Root ◽  
Connective Tissue Disorder ◽  
Aortic Root Replacement ◽  
Term Outcome ◽  
Valve Sparing

scholarly journals Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data

Genes ◽  
2019 ◽  
Vol 10 (10) ◽  
pp. 764 ◽  
Author(s):  
Camerota ◽  
Ritelli ◽  
Wischmeijer ◽  
Majore ◽  
Cinquina ◽  
...  
Keyword(s):  
Cervical Spine ◽  
Connective Tissue ◽  
Spontaneous Pneumothorax ◽  
Age Of Onset ◽  
Phenotypic Variability ◽  
Connective Tissue Disorder ◽  
Cervical Spine Instability ◽  
Cutaneous Manifestations ◽  
Life Threatening ◽  
Arterial Aneurysms

Loeys-Dietz syndrome (LDS) is a connective tissue disorder first described in 2005 featuring aortic/arterial aneurysms, dissections, and tortuosity associated with craniofacial, osteoarticular, musculoskeletal, and cutaneous manifestations. Heterozygous mutations in 6 genes (TGFBR1/2, TGFB2/3, SMAD2/3), encoding components of the TGF-β pathway, cause LDS. Such genetic heterogeneity mirrors broad phenotypic variability with significant differences, especially in terms of the age of onset, penetrance, and severity of life-threatening vascular manifestations and multiorgan involvement, indicating the need to obtain genotype-to-phenotype correlations for personalized management and counseling. Herein, we report on a cohort of 34 LDS patients from 24 families all receiving a molecular diagnosis. Fifteen variants were novel, affecting the TGFBR1 (6), TGFBR2 (6), SMAD3 (2), and TGFB2 (1) genes. Clinical features were scored for each distinct gene and matched with literature data to strengthen genotype-phenotype correlations such as more severe vascular manifestations in TGFBR1/2-related LDS. Additional features included spontaneous pneumothorax in SMAD3-related LDS and cervical spine instability in TGFB2-related LDS. Our study broadens the clinical and molecular spectrum of LDS and indicates that a phenotypic continuum emerges as more patients are described, although genotype-phenotype correlations may still contribute to clinical management.

Ocular findings in two Chinese children with Loeys-Dietz syndrome

2021 ◽  
pp. 112067212110206
Author(s):  
Wenting Wang ◽  
Hui Man ◽  
Jie Zhang ◽  
Penglin Yu ◽  
Shuchan Li ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Skeletal Development ◽  
Connective Tissue Disorder ◽  
Extraocular Muscles ◽  
Fundus Examination ◽  
Arteriovenous Anastomosis ◽  
Case Presentation ◽  
Ocular Findings ◽  
Development Delay ◽  
Systemic Symptoms

Background: Loeys-Dietz syndrome (LDS) is a type of connective tissue disease with systemic symptoms similar to Marfan syndrome. Ocular findings are rarely reported especially fundus and extraocular muscles. Case presentation: A 6-month old boy with systemic skeletal development delay was found peripheral non-perfusion and neovascularization in the both eyes, and gaven intravitreal injection of ranibizumab and laser. Fundus examination revealed a mild straightening of the temporal vessel in the both eyes. A 22-month old girl with confirmed connective tissue disorder presented to our hospital for strabismus and showed congenital hypoplasia of extraocular muscles. She also had arteriovenous anastomosis in the retinal. The diagnosis of LDS was supported by the genetic DNA examination. Conclusion: His is the first report of LDS with congenital hypoplasia of extraocular muscles, meanwhile, ocular examination especially fundus should be paid attention to.

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