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Harry C Dietz - One of the best experts on this subject based on the ideXlab platform.
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massive ductal aneurysm in an asymptomatic child with Loeys Dietz Syndrome
Annals of Pediatric Cardiology, 2021Co-Authors: Saira Siddiqui, Harry C Dietz, Antonio R Polanco, Michael Dilorenzo, Amee Shah, Michael Snyder, Emile A Bacha, Kanwal M FarooqiAbstract:An asymptomatic 3-year-old with Loeys-Dietz Syndrome (LDS) followed for a small patent ductus arteriosus and dilated aorta was found to have a massive ductal aneurysm on routine surveillance cardiac magnetic resonance. The aneurysm was successfully resected. Serial advanced imaging tools are useful in surveillance, diagnosis, and management in patients with LDS.
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safety and outcome of gastrostomy tube placement in patients with Loeys Dietz Syndrome
BMC Gastroenterology, 2020Co-Authors: Pamela A Frischmeyerguerrerio, Gretchen Maccarrick, Harry C Dietz, Dylan F Stewart, Anthony L. GuerrerioAbstract:Loeys-Dietz Syndrome (LDS) is a systemic connective tissue disease (CTD) associated with a predisposition for intestinal inflammation, food allergy, and failure to thrive, often necessitating nutritional supplementation via gastrostomy tube. Poor wound healing has also been observed in in some patients with CTD, potentially increasing the risk of surgical interventions. We undertook to determine the safety and efficacy of gastrostomy tube placement in this population. We performed a retrospective cohort study of 10 LDS patients who had a total of 12 gastrostomy tubes placed. No procedural complications occurred, although one patient developed buried bumper Syndrome in the near post-procedural time period and one patient had a small abscess at a surgical stitch. Most patients exhibited improvements in growth, with a median immediate improvement in BMI Z-score of 0.2 per month following the institution of gastrostomy tube feedings. Those with uncontrolled inflammation due to inflammatory bowel disease or eosinophilic gastrointestinal disease showed the least benefit and in some cases failed to demonstrate significant weight gain despite nutritional supplementation. Gastrostomy tube placement (surgical or endoscopic) is a generally safe and a reasonable therapeutic option for patients with LDS despite their underlying CTD.
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fevr findings in patients with Loeys Dietz Syndrome type ii
Ophthalmic Genetics, 2018Co-Authors: Mark A Solinski, Harry C Dietz, Michael P Blair, David Mittelman, Michael J ShapiroAbstract:ABSTRACTBackground: Loeys-Dietz Syndrome (LDS) is a connective tissue disorder that has phenotypic overlap with Marfan Syndrome. In LDS, the aortic root dissections can be more aggressive and occur at a younger age than Marfan Syndrome.Materials and Methods: Review of two cases.Results: A 7-year old boy with history of LDS was found to have a vitreous hemorrhage in the right eye. Further examination showed findings of Familial Exudative Vitreoretinopathy (FEVR). Both eyes were found to have peripheral non-perfusion and neovascularization. A non-related 25-month-old boy with no molecularly confirmed connective tissue disorder was found to have bilateral peripheral non-perfusion and bilateral tractional retinal detachments. The boy was clinically diagnosed with Larsen Syndrome, Ehlers-Danlos Syndrome kyphoscoliotic form, and Marfan Syndrome before presentation. The FEVR lead to consideration of LDS that was molecularly confirmed. Consequently, he was monitored for aortic root dilation.Conclusion: FEVR findi...
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carotid artery tortuosity index is associated with the need for early aortic root replacement in patients with Loeys Dietz Syndrome
Journal of Computer Assisted Tomography, 2018Co-Authors: Linda Chi Hang Chu, Harry C Dietz, James H Black, Robert J Beaulieu, Reham R Haroun, Elliot K. FishmanAbstract:OBJECTIVE This study aimed to determine if carotid arterial tortuosity represents a marker of disease severity in Loeys-Dietz Syndrome (LDS). METHODS Fifty-four 54 LDS patients (mean age, 17.0 years) who underwent computed tomogram angiography from January 2004 to December 2013 were retrospectively identified. Carotid artery tortuosity index (CATI) was calculated from computed tomogram angiography. Clinical variables were obtained from the medical records. Relationship between CATI and need for aortic root replacement was evaluated with Cox proportional hazard model and Kaplan-Meier analysis. RESULTS Higher CATI was associated with the need for aortic root replacement (P < 0.001) in the univariate Cox proportional hazard model. Patients were stratified based on both CATI and aortic root size in Kaplan-Meier analysis, and patients with higher CATI were more likely to require aortic root replacement (P < 0.001) in both aortic root size strata. CONCLUSION Increased carotid artery tortuosity is associated with the need for early aortic root replacement in patients with LDS.
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spondylolisthesis is common early and severe in Loeys Dietz Syndrome
Journal of Pediatric Orthopaedics, 2018Co-Authors: David Kirby, Harry C Dietz, Paul D SponsellerAbstract:Background We studied the prevalence and treatment outcomes of spondylolisthesis in patients with Loeys-Dietz Syndrome (LDS). Methods Clinical data and lumbosacral imaging of 138 patients with LDS were reviewed. Spondylolisthesis (L4-L5 or L5-S1) and spondylolysis were characterized by multimodal imaging and correlated with clinical data. Treatments and outcomes were characterized for patients with spondylolisthesis. Associations were determined using the Fisher exact, Mann-Whitney, and Student t tests (α=0.05). Results Twenty-four patients (17%) had spondylolysis and 23 (17%) had spondylolisthesis. Median age at spondylolisthesis diagnosis was 11 (interquartile range, 9.5) years. In patients in whom measurement was possible (n=20), mean (±SD) slip was 48% (±35%). Nineteen patients had L5-S1 slip and 4 had L4-L5 slip. Of the patients with spondylolisthesis, 5 had no evidence of spondylolysis; of those with spondylolysis, all but 6 had spondylolisthesis. Eleven patients with spondylolisthesis underwent posterior spinal fusion (PSF) to treat slip progression, pain, and/or neurological deficit. Spondylolisthesis recurred in 1 patient who underwent PSF with bone graft arthrodesis alone (no instrumentation). The other 10 patients underwent PSF with instrumentation and fusion. Three patients additionally underwent Bohlman interbody fusion. Two patients developed implant failure. S2 fixation was performed at revision to achieve fusion in these patients. Mean Meyerding grade improved in patients who underwent arthrodesis, from 3.9 (±1.2) to 1.9 (±1.3) (P=0.002). Complications were 2 cerebrospinal fluid leaks, 2 transient postoperative paresthesias, and 1 case each of pseudarthrosis at S1-S2, wound dehiscence, and transient urinary incontinence. No significant associations between LDS type and lumbosacral abnormalities were found. Conclusions High-grade spondylolisthesis is common in LDS and usually associated with spondylolysis. Patients requiring surgery for spondylolisthesis present during childhood and do well after instrumented PSF. Interbody fusion and stabilization of S1 and S2 can prevent physeal deformation. LDS should be considered in patients with high-grade spondylolisthesis. Patients with LDS should be monitored for spondylolisthesis and spondylolysis starting when they are young. Level of evidence Level IV-retrospective study.
Luca A. Vricella - One of the best experts on this subject based on the ideXlab platform.
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aortic root aneurysm repair in a neonate with Loeys Dietz Syndrome
Cardiology in The Young, 2021Co-Authors: William Cohen, Luca A. Vricella, P Combs, Joshua Wong, Rohit Loomba, Brian Lee, Chawki Elzein, Michel N Ilbawi, Narutoshi HibinoAbstract: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.
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management of the aortic arch in patients with Loeys Dietz Syndrome
The Journal of Thoracic and Cardiovascular Surgery, 2020Co-Authors: Florian S. Schoenhoff, Nishant D Patel, Luca A. Vricella, Harry C Dietz, Diane E Alejo, James H Black, Todd C Crawford, Joshua C Grimm, J Magruder, Allen YoungAbstract:Abstract Objectives We sought to develop strategies for management of the aortic arch in patients with Loeys–Dietz Syndrome (LDS) through a review of our clinical experience with these patients and a comparison with our experience in patients with Marfan Syndrome (MFS). Methods We reviewed hospital and follow-up records of 79 patients with LDS and compared them with 256 patients with MFS who served as reference controls. Results In the LDS group, 16% of patients presented initially with acute aortic dissection (AAD) (67% type A, 33% type B) or developed AAD during follow-up, compared with 10% of patients with MFS (95% type A, 5% type B). There was no difference between patients with LDS or MFS in need for subsequent arch interventions after aortic root surgery (46% vs 50%, P = 1.0). Among the patients who never had AAD, the need for arch repair at initial root surgery was greater in patients with LDS (5% vs 0.4%, P = .04), as was the need for any subsequent aortic surgery (12% vs 1.3%, P = .0004). Late mortality in patients with LDS after arch repair was greater than in those patients who had no arch intervention (33% vs 6%, P = .007). Conclusions In the absence of dissection, patients with LDS have a greater rate of arch intervention after root surgery than patients with MFS. After a dissection, arch reintervention rates are similar in the 2 groups. Arch intervention portends greater late mortality in LDS.
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pseudoaneurysm formation after valve sparing root replacement in children with Loeys Dietz Syndrome
Journal of Cardiac Surgery, 2018Co-Authors: Rui H Liu, Luca A. Vricella, Duke E Cameron, Charles D Fraser, Xun Zhou, Narutoshi HibinoAbstract:BACKGROUND Loeys-Dietz Syndrome (LDS) is an autosomal dominant connective tissue disorder predisposing patients to aneurysm formation and arterial dissection. Aortic root replacement is often performed prophylactically and valve-sparing root replacement (VSRR) has become the procedure of choice. However, in these patients with connective tissue disorders, postoperative pseudoaneurysms may develop. METHODS All children with LDS undergoing VSRR at a single institution were retrospectively reviewed to identify patients who developed postoperative pseudoaneurysms. RESULTS Thirty-one children with LDS underwent VSRR; four of these developed pseudoaneurysms of their synthetic aortic root grafts requiring reoperation. These four children were reviewed to investigate the cause of pseudoaneurysm formation after VSRR. Each had severe subtypes of LDS. Each underwent reoperation for repair of their pseudoaneurysms and were found to have suffered pseudoaneurysms as a result of tearing of sutures from their reimplantation VSRR. CONCLUSIONS Pseudoaneurysms following aortic root replacement with VSRR can occur in children with severe subtypes of LDS. Long-term surveillance is required to detect these potentially life-threatening lesions.
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aortic root replacement for children with Loeys Dietz Syndrome
The Annals of Thoracic Surgery, 2017Co-Authors: Nishant D Patel, Diane E. Alejo, Narutoshi Hibino, Harry C Dietz, Todd C Crawford, Duke E Cameron, Luca A. VricellaAbstract:Background Loeys-Dietz Syndrome (LDS) is an aggressive aortopathy with a proclivity for aortic aneurysm rupture and dissection at smaller diameters than other connective tissue disorders. We reviewed our surgical experience of children with LDS to validate our guidelines for prophylactic aortic root replacement (ARR). Methods We reviewed all children (younger than 18 years) with a diagnosis of LDS who underwent ARR at our institution. The primary endpoint was mortality, and secondary endpoints included complications and the need for further interventions. Results Thirty-four children with LDS underwent ARR. Mean age at operation was 10 years, and 15 (44%) were female. Mean preoperative root diameter was 4 cm. Three children (9%) had composite ARR with a mechanical prosthesis, and 31 (91%) underwent valve-sparing ARR. Concomitant procedures included arch replacement in 2 (6%), aortic valve repair in 1 (3%), and patent foramen ovale closure in 16 (47%). There was no operative mortality. Two children (6%) required late replacement of the ascending aorta, 5 (15%) required arch replacement, 1 (3%) required mitral valve replacement, and 2 (6%) had coronary button aneurysms/pseudoaneurysms requiring repair. Three children required redo valve-sparing ARR after a Florida sleeve procedure, and 2 had progressive aortic insufficiency requiring aortic valve replacement after a valve-sparing procedure. There were 2 late deaths (6%). Conclusions These data confirm the aggressive aortopathy of LDS. Valve-sparing ARR should be performed when feasible to avoid the risks of prostheses. Serial imaging of the arterial tree is critical, given the rate of subsequent intervention.
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cardiovascular operations for Loeys Dietz Syndrome intermediate term results
The Journal of Thoracic and Cardiovascular Surgery, 2017Co-Authors: Nishant D Patel, Diane E. Alejo, Narutoshi Hibino, Luca A. Vricella, Harry C Dietz, James H Black, Todd C Crawford, Trent J Magruder, Duke E CameronAbstract:Abstract Objectives Early experience with Loeys-Dietz Syndrome (LDS) suggested an aggressive aortopathy with high risk of aneurysm dissection and rupture at young ages and at smaller aortic diameters than in other connective tissue disorders. We reviewed our experience with LDS to re-examine our indications and outcomes of surgical management. Methods We reviewed all patients with a diagnosis of LDS who underwent cardiovascular surgery at our institution. The primary endpoint was mortality, and secondary endpoints included postoperative complications and need for reintervention. Results Seventy-nine operated patients with LDS were identified. Mean age at first operation was 25 years, 39 (49%) were female, and 38 (48%) were children (age Conclusions Growing experience with LDS has confirmed early impressions of its aggressive nature and proclivity toward aortic catastrophe. Surgical outcomes are favorable, but reintervention rates are high. Meticulous follow-up with cardiovascular surveillance imaging remain important for management, particularly as clinical LDS subtypes are characterized and more tailored treatment is developed.
Nishant D Patel - One of the best experts on this subject based on the ideXlab platform.
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management of the aortic arch in patients with Loeys Dietz Syndrome
The Journal of Thoracic and Cardiovascular Surgery, 2020Co-Authors: Florian S. Schoenhoff, Nishant D Patel, Luca A. Vricella, Harry C Dietz, Diane E Alejo, James H Black, Todd C Crawford, Joshua C Grimm, J Magruder, Allen YoungAbstract:Abstract Objectives We sought to develop strategies for management of the aortic arch in patients with Loeys–Dietz Syndrome (LDS) through a review of our clinical experience with these patients and a comparison with our experience in patients with Marfan Syndrome (MFS). Methods We reviewed hospital and follow-up records of 79 patients with LDS and compared them with 256 patients with MFS who served as reference controls. Results In the LDS group, 16% of patients presented initially with acute aortic dissection (AAD) (67% type A, 33% type B) or developed AAD during follow-up, compared with 10% of patients with MFS (95% type A, 5% type B). There was no difference between patients with LDS or MFS in need for subsequent arch interventions after aortic root surgery (46% vs 50%, P = 1.0). Among the patients who never had AAD, the need for arch repair at initial root surgery was greater in patients with LDS (5% vs 0.4%, P = .04), as was the need for any subsequent aortic surgery (12% vs 1.3%, P = .0004). Late mortality in patients with LDS after arch repair was greater than in those patients who had no arch intervention (33% vs 6%, P = .007). Conclusions In the absence of dissection, patients with LDS have a greater rate of arch intervention after root surgery than patients with MFS. After a dissection, arch reintervention rates are similar in the 2 groups. Arch intervention portends greater late mortality in LDS.
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aortic root replacement for children with Loeys Dietz Syndrome
The Annals of Thoracic Surgery, 2017Co-Authors: Nishant D Patel, Diane E. Alejo, Narutoshi Hibino, Harry C Dietz, Todd C Crawford, Duke E Cameron, Luca A. VricellaAbstract:Background Loeys-Dietz Syndrome (LDS) is an aggressive aortopathy with a proclivity for aortic aneurysm rupture and dissection at smaller diameters than other connective tissue disorders. We reviewed our surgical experience of children with LDS to validate our guidelines for prophylactic aortic root replacement (ARR). Methods We reviewed all children (younger than 18 years) with a diagnosis of LDS who underwent ARR at our institution. The primary endpoint was mortality, and secondary endpoints included complications and the need for further interventions. Results Thirty-four children with LDS underwent ARR. Mean age at operation was 10 years, and 15 (44%) were female. Mean preoperative root diameter was 4 cm. Three children (9%) had composite ARR with a mechanical prosthesis, and 31 (91%) underwent valve-sparing ARR. Concomitant procedures included arch replacement in 2 (6%), aortic valve repair in 1 (3%), and patent foramen ovale closure in 16 (47%). There was no operative mortality. Two children (6%) required late replacement of the ascending aorta, 5 (15%) required arch replacement, 1 (3%) required mitral valve replacement, and 2 (6%) had coronary button aneurysms/pseudoaneurysms requiring repair. Three children required redo valve-sparing ARR after a Florida sleeve procedure, and 2 had progressive aortic insufficiency requiring aortic valve replacement after a valve-sparing procedure. There were 2 late deaths (6%). Conclusions These data confirm the aggressive aortopathy of LDS. Valve-sparing ARR should be performed when feasible to avoid the risks of prostheses. Serial imaging of the arterial tree is critical, given the rate of subsequent intervention.
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cardiovascular operations for Loeys Dietz Syndrome intermediate term results
The Journal of Thoracic and Cardiovascular Surgery, 2017Co-Authors: Nishant D Patel, Diane E. Alejo, Narutoshi Hibino, Luca A. Vricella, Harry C Dietz, James H Black, Todd C Crawford, Trent J Magruder, Duke E CameronAbstract:Abstract Objectives Early experience with Loeys-Dietz Syndrome (LDS) suggested an aggressive aortopathy with high risk of aneurysm dissection and rupture at young ages and at smaller aortic diameters than in other connective tissue disorders. We reviewed our experience with LDS to re-examine our indications and outcomes of surgical management. Methods We reviewed all patients with a diagnosis of LDS who underwent cardiovascular surgery at our institution. The primary endpoint was mortality, and secondary endpoints included postoperative complications and need for reintervention. Results Seventy-nine operated patients with LDS were identified. Mean age at first operation was 25 years, 39 (49%) were female, and 38 (48%) were children (age Conclusions Growing experience with LDS has confirmed early impressions of its aggressive nature and proclivity toward aortic catastrophe. Surgical outcomes are favorable, but reintervention rates are high. Meticulous follow-up with cardiovascular surveillance imaging remain important for management, particularly as clinical LDS subtypes are characterized and more tailored treatment is developed.
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Valve-sparing aortic root replacement in Loeys-Dietz Syndrome
The Annals of Thoracic Surgery, 2011Co-Authors: Nishant D Patel, Timothy J. George, Diane E. Alejo, George J Arnaoutakis, Jeremiah G Allen, E. Cameron, Harry C Dietz, Luca A. VricellaAbstract:Background Loeys-Dietz Syndrome (LDS) is a recently recognized aggressive aortic disorder characterized by root aneurysm, arterial tortuosity, hypertelorism, and bifid uvula or cleft palate. The results of prophylactic root replacement using valve-sparing procedures (valve-sparing root replacement [VSRR]) in patients with LDS is not known. Methods We reviewed all patients with clinical and genetic (transforming growth factor-β receptor mutations) evidence of LDS who underwent VSRR at our institution. Echocardiographic and clinical data were obtained from hospital and follow-up clinic records. Results From 2002 to 2009, 31 patients with a firm diagnosis of LDS underwent VSRR for aortic root aneurysm. Mean age was 15 years, and 24 (77%) were children. One (3%) patient had a bicuspid aortic valve. Preoperative sinus diameter was 3.9 ± 0.8 cm ( z score 7.0 ± 2.9) and 2 (6%) had greater than 2+ aortic insufficiency. Thirty patients (97%) underwent reimplantation procedures using a Valsalva graft. There were no operative deaths. Mean follow-up was 3.6 years (range, 0 to 7 years). One patient required late repair of a pseudoaneurysm at the distal aortic anastomosis, and 1 had a conversion to a David reimplantation procedure after a Florida sleeve operation. No patient suffered thromboembolism or endocarditis, and 1 (3%) patient experienced greater than 2+ late aortic insufficiency. No patient required late aortic valve repair or replacement. Conclusions Loeys-Dietz Syndrome is an aggressive aortic aneurysm Syndrome that can be addressed by prophylactic aortic root replacement with low operative risk. Valve-sparing procedures have encouraging early and midterm results, similar to those in Marfan Syndrome, and are an attractive option for young patients.
Alan C Braverman - One of the best experts on this subject based on the ideXlab platform.
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ectopia lentis in Loeys Dietz Syndrome type 4
American Journal of Medical Genetics Part A, 2020Co-Authors: Alan C Braverman, Kevin J Blinder, Sangeeta Khanna, Marcia C. WillingAbstract:Loeys-Dietz Syndrome is a heritable disorder of the connective tissue leading to multisystem involvement including craniofacial features, skeletal abnormalities, cutaneous findings and early-onset and aggressive disease of the aorta and its branches. There are multiple types of Loeys-Dietz Syndrome related to pathogenic variants in TGFBR1, TGFBR2, SMAD3, TGFB2, and TGFB3. Individuals with Loeys-Dietz Syndrome may be misdiagnosed as having Marfan Syndrome due to shared phenotypic features and aortic root dilation. However, ectopia lentis has been an important discriminating feature, being unique to Marfan Syndrome and not reported to be associated with Loeys-Dietz Syndrome. We report the case of a 46-year-old woman with Loeys-Dietz Syndrome type 4 due to a pathogenic variant in TGFB2 who was diagnosed with ectopia lentis at age 44. The patient underwent whole exome sequencing and no other pathogenic variants were found to explain the ectopia lentis. Our findings indicate that ectopia lentis may be an uncommon finding in Loeys-Dietz Syndrome type 4 and emphasize the importance of genetic testing in familial thoracic aortic aneurysm disease.
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pregnancy after aortic root replacement in Loeys Dietz Syndrome high risk of aortic dissection
American Journal of Medical Genetics Part A, 2016Co-Authors: Alan C Braverman, Marcia C. Willing, Christopher Bach, Patrick J Geraghty, Marc R Moon, Nicholas T. KouchoukosAbstract:Loeys-Dietz Syndrome due to mutations in TGFBR1 and 2 is associated with early and aggressive aortic aneurysm and branch vessel disease. There are reports of uncomplicated pregnancy in this condition, but there is an increased risk of aortic dissection and uterine rupture. Women with underlying aortic root aneurysm are cautioned about the risk of pregnancy-related aortic dissection. Prophylactic aortic root replacement is recommended in women with aortopathy and aortic root dilatation to lessen the risk of pregnancy. There is limited information in the literature about the outcomes of pregnancy after root replacement in Loeys-Dietz Syndrome. We present a case series of three women with Loeys-Dietz Syndrome who underwent elective aortic root replacement for aneurysm disease and subsequently became pregnant and underwent Cesarean section delivery. Each of these women were treated with beta blockers throughout pregnancy. Surveillance echocardiograms and noncontrast MRA studies during pregnancy remained stable demonstrating no evidence for aortic enlargement. Despite the normal aortic imaging and careful observation, two of the three women suffered acute aortic dissection in the postpartum period. These cases highlight the high risk of pregnancy following aortic root replacement in Loeys-Dietz Syndrome. Women with this disorder are recommended to be counseled accordingly. © 2016 Wiley Periodicals, Inc.
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multiple facial milia in patients with Loeys Dietz Syndrome
Archives of Dermatology, 2011Co-Authors: Brendan M Lloyd, Alan C Braverman, Milan J AnadkatAbstract:Background: Loeys-Dietz Syndrome (LDS) results from mutations in the TGFBR1 or TGFBR2 genes and is known to cause aggressive cardiovascular disease, including aortic aneurysms and dissections at an early age. Currently, craniofacial, skeletal, and cardiovascular findings play an important role in early recognition of the disease. While many patients do have recognizable cutaneous features of LDS, little information about associated skin findings has been reported. Observations: Four unrelated patients with LDS due to a mutation in the TGFBR2 gene were observed to have numerous facial milia. All 4 patients reported that the milia had been present since early childhood and had increased in number with time. In some cases, affected relatives were reported to have similar findings. Conclusions: To our knowledge, the association of LDS and facial milia has not been previously reported. Recognition of LDS is important because the aggressive aortic and arterial disease warrants early surgical therapy. Facial milia and other cutaneous findings may possibly differentiate LDS from Marfan Syndrome and other related disorders, thereby facilitating early diagnosis. Interestingly, each of the 4 patients with LDS and facial milia had a mutation in TGFBR2 despite widespread variability in other features of the disease.
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Total Aortic Replacement in Loeys-Dietz Syndrome
The Annals of Thoracic Surgery, 2009Co-Authors: J. Scott Rankin, Alan C Braverman, Nicholas T. KouchoukosAbstract:Loeys-Dietz Syndrome presents early in life with rapidly progressive aortic aneurysmal disease, hypertelorism, and bifid uvula/cleft palate. Genetic testing reveals transforming growth factor-β 1 and 2 mutations. Patients require monitoring for progressive aneurysmal disease, and may need total aortic replacement. Two patients are presented who typify these concepts.
Nicholas T. Kouchoukos - One of the best experts on this subject based on the ideXlab platform.
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pregnancy after aortic root replacement in Loeys Dietz Syndrome high risk of aortic dissection
American Journal of Medical Genetics Part A, 2016Co-Authors: Alan C Braverman, Marcia C. Willing, Christopher Bach, Patrick J Geraghty, Marc R Moon, Nicholas T. KouchoukosAbstract:Loeys-Dietz Syndrome due to mutations in TGFBR1 and 2 is associated with early and aggressive aortic aneurysm and branch vessel disease. There are reports of uncomplicated pregnancy in this condition, but there is an increased risk of aortic dissection and uterine rupture. Women with underlying aortic root aneurysm are cautioned about the risk of pregnancy-related aortic dissection. Prophylactic aortic root replacement is recommended in women with aortopathy and aortic root dilatation to lessen the risk of pregnancy. There is limited information in the literature about the outcomes of pregnancy after root replacement in Loeys-Dietz Syndrome. We present a case series of three women with Loeys-Dietz Syndrome who underwent elective aortic root replacement for aneurysm disease and subsequently became pregnant and underwent Cesarean section delivery. Each of these women were treated with beta blockers throughout pregnancy. Surveillance echocardiograms and noncontrast MRA studies during pregnancy remained stable demonstrating no evidence for aortic enlargement. Despite the normal aortic imaging and careful observation, two of the three women suffered acute aortic dissection in the postpartum period. These cases highlight the high risk of pregnancy following aortic root replacement in Loeys-Dietz Syndrome. Women with this disorder are recommended to be counseled accordingly. © 2016 Wiley Periodicals, Inc.
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Total Aortic Replacement in Loeys-Dietz Syndrome
The Annals of Thoracic Surgery, 2009Co-Authors: J. Scott Rankin, Alan C Braverman, Nicholas T. KouchoukosAbstract:Loeys-Dietz Syndrome presents early in life with rapidly progressive aortic aneurysmal disease, hypertelorism, and bifid uvula/cleft palate. Genetic testing reveals transforming growth factor-β 1 and 2 mutations. Patients require monitoring for progressive aneurysmal disease, and may need total aortic replacement. Two patients are presented who typify these concepts.
