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.
Last. Harry C. Dietz(JHUSOM: Johns Hopkins University School of Medicine)H-Index: 108
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Loeys–Dietz syndrome is a connective tissue disorder predisposing individuals to aortic and arterial aneurysms. Presenting with a wide spectrum of multisystem involvement, medical management for some individuals is complex. This review of literature and expert opinion aims to provide medical guidelines for care of individuals with Loeys–Dietz syndrome. Genet Med 16 8, 576–587.
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 institu...
Last. Anji T. Yetman(University of Colorado Denver)H-Index: 2
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Objective This study was undertaken to assess the frequency and outcome of cardiovascular surgery in children with Marfan or Loeys-Dietz syndrome. Methods A retrospective review from 2 regional Marfan subspecialty clinics was performed. Between 1997 and 2007, 204 children with Marfan syndrome and 17 children with Loeys-Dietz syndrome were followed serially. Of these patients, 35 were identified who had undergone cardiovascular surgery at 18 years of age or less. Demographic, echocardiographic, a...
A 3-month-old boy presented with respiratory tract infection and was found to have a posterior mediastinal mass on chest radiography. CT of the chest (Fig. 1) showed an aortic dissection in the descending thoracic aorta causing a pseudoaneurysm measuring approximately 4×4 cm. The child had a family history of intracranial aneurysms. MR angiography of the head (Fig. 2) showed elongated, tortuous intracranial vessels. The child also had a bifid uvula. The thoracic pseudoaneurysm was repaired with ...
Background The Florida sleeve procedure is a simplified valve-sparing technique for repair of functional type I aortic insufficiency associated with root aneurysms. Midterm outcomes are reported, including standard echocardiographic measurements. Methods The study included all patients undergoing the Florida sleeve procedure who had at least 2 years of postoperative echocardiographic follow-up. Data were acquired preoperatively and postoperatively at 1 week and 1, 2, and 3 years. Measurements an...
#1Peter Matt(JHUSOM: Johns Hopkins University School of Medicine)H-Index: 18
#2Jennifer Habashi(JHUSOM: Johns Hopkins University School of Medicine)H-Index: 14
Last. Harry C. Dietz(JHUSOM: Johns Hopkins University School of Medicine)H-Index: 108
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Objective Marfan syndrome is a systemic connective tissue disorder caused by mutations in the fibrillin-1 gene. It was originally believed that Marfan syndrome results exclusively from the production of abnormal fibrillin-1 that leads to structurally weaker connective tissue when incorporated into the extracellular matrix. This effect seemed to explain many of the clinical features of Marfan syndrome, including aortic root dilatation and acute aortic dissection, which represent the main causes o...
We describe 5 patients who presented with musculoskeletal abnormalities in the neonatal period. All patients were initially suspected to have Larsen syndrome or Beals syndrome but were subsequently diagnosed with a TGFBR2 mutation diagnostic of Loeys-Dietz syndrome. Patients had progressive aortic enlargement, which necessitated surgical intervention for 3 patients and resulted in the death of 1 patient. Delay in diagnosis of Loeys-Dietz syndrome may be associated with adverse prognosis.
Background Loeys-Dietz syndrome (LDS) is a recently described genetic aortic aneurysm syndrome resulting from mutations in receptors for the cytokine transforming growth factor-β. Phenotypic features include a bifid uvula, hypertelorism, cleft palate, and generalized arterial tortuosity, but risk of thoracic aortic rupture and dissection is the principle focus of management and exceeds that of most known connective tissue disorders. Our surgical experience with LDS was reviewed to assess outcome...
Last. Harry C. Dietz(Johns Hopkins University)H-Index: 108
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Background The Loeys–Dietz syndrome is a recently described autosomal dominant aortic-aneurysm syndrome with widespread systemic involvement. The disease is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate and is caused by heterozygous mutations in the genes encoding transforming growth factor β receptors 1 and 2 (TGFBR1 and TGFBR2, respectively). Methods We undertook the clinical and molecular characterization of 52 affected familie...
Last. Harry C. Dietz(Johns Hopkins University)H-Index: 108
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We report heterozygous mutations in the genes encoding either type I or type II transforming growth factor β receptor in ten families with a newly described human phenotype that includes widespread perturbations in cardiovascular, craniofacial, neurocognitive and skeletal development. Despite evidence that receptors derived from selected mutated alleles cannot support TGFβ signal propagation, cells derived from individuals heterozygous with respect to these mutations did not show altered kinetic...
1. Talha Niaz, MBBS* 2. Jonathan N. Johnson, MD*,† 3. Frank Cetta, MD*,† 4. Timothy M. Olson, MD*,† 5. Donald J. Hagler, MD*,† 1. *Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine, and 2. †Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN * Abbreviations: AHA : : American Heart Association BAV : : bicuspid aortic valve TTE : : transthoracic echocardiography Bicuspid aortic valve is the most common congenital heart defect in children, adolescents, ...
Loeys-Dietz syndrome is an autosomal dominant genetic disorder which is associated with significant and often crucial vascular manifestations. This review is aimed to examine current evidence on pathophysiology and management of Loeys-Dietz syndrome in current era. A comprehensive electronic search was done to identify the articles that discussed all the aspects of Loeys-Dietz syndrome, combined key words and Medical Subject Headings (MeSH) terms were used. Relevant articles have been summarized...
#2William Cohen(U of C: University of Chicago)H-Index: 5
Last. Narutoshi Hibino(U of C: University of Chicago)H-Index: 32
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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.
Background and Purpose Loeys-Dietz syndrome (LDS) is a connective tissue disorder characterized by arterial aneurysms and dissections. This study sought to assess and describe the arterial changes of the cervical arterial vasculature of such patients, with an emphasis on the carotid bifurcation.
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 Marfan syndrome patients (MFS). Methods We reviewed hospital and follow-up records of 79 LDS patients and compared them with 256 Marfan syndrome patients who served as reference controls. Results In the LDS group, 16% of patients presented initially with acute aorti...
Loeys-Dietz Syndrome (LDS) is a rare autosomal dominant connective tissue disorder that can lead to aortic aneurysm and dissection. There are five different types caused by mutations in TGFBR1, TGFBR2, SMAD3, TGFB2, and TGFB3 respectively. The prevalence of LDS is estimated to be less than 1 in 100,000. There is considerable variability in the phenotype of LDS, from mild features to severe systemic abnormalities. There is overlap in the manifestations of Loeys-Dietz and Marfan syndromes, includi...
Abstract Bicuspid aortic valve (BAV) is one of the most common congenital heart defects in children, adolescents and adults. BAV can occur as an isolated lesion or in association with other congenital heart defects, such as coarctation of the aorta or genetic syndromes like Turner syndrome. Although the majority of long term complications associated with BAV manifest later in life, children and adolescents may present with early onset valvular dysfunction or dilation of the aorta. BAV is a heter...
#2Issei Komuro(UTokyo: University of Tokyo)H-Index: 115
Abstract Recent advances in DNA sequencing technology have identified several causative genes for hereditary thoracic aortic aneurysms and dissections (TAADs), including Marfan syndrome (MFS), Loeys–Dietz syndrome, vascular Ehlers–Danlos syndrome, and familial non-syndromic TAADs. Syndromic TAADs are typically caused by pathogenic variants in the transforming growth factor-β signal and extracellular matrix-related genes (e.g. FBN1, TGFBR1, TGFBR2, SMAD3, TGFB2, and COL3A1). On the other hand, ap...