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Endovascular Repair of Internal Mammary Artery Aneurysms in 2 Sisters with SMAD3 Mutation

Published on May 1, 2017in Annals of Vascular Surgery1.179
路 DOI :10.1016/j.avsg.2016.10.048
Daiva Nevidomskyte2
Estimated H-index: 2
(UW: University of Washington),
Sherene Shalhub13
Estimated H-index: 13
(UW: University of Washington)
+ 4 AuthorsBenjamin W. Starnes26
Estimated H-index: 26
(UW: University of Washington)
Abstract
True aneurysms of the internal mammary artery are rare and have been described in association with vasculitis or connective tissue disorders. Herein, we describe 2 cases of familial internal mammary artery aneurysms (IMAs) in 2 sisters with SMAD3 mutation. The older sister presented at the age of 54 years with an incidental diagnosis of a multilobed right IMA and the younger sister presented several years earlier with a ruptured left IMA aneurysm at the age of 49 years. Both sisters had Debakey type I aortic dissections prior to the IMA aneurysm presentation. To our knowledge, this is the first time IMA aneurysms have been described in siblings with SMAD3 mutation. In our experience, endovascular repair is a feasible and safe treatment option. An assessment of the entire arterial tree is recommended in patients diagnosed with SMAD3 mutations.
  • References (22)
  • Citations (4)
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References22
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#1Christopher R. Burke (UW: University of Washington)H-Index: 3
#2Sherene Shalhub (UW: University of Washington)H-Index: 13
Last. Benjamin W. Starnes (UW: University of Washington)H-Index: 26
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Aneurysms of the internal mammary artery are rare. We describe a case of a 49-year-old woman with a SMAD3 mutation who presented with left internal mammary artery aneurysm that was thought to have ruptured, causing a large spontaneous left mediastinal hematoma. The aneurysm was treated successfully months after initial presentation with coil embolization. SMAD3 mutations are linked to familial thoracic aortic aneurysms and dissections, peripheral aneurysms, and early-onset osteoarthritis, with a...
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#1Jens Heyn (LMU: Ludwig Maximilian University of Munich)H-Index: 11
#2H. Zimmermann (LMU: Ludwig Maximilian University of Munich)H-Index: 4
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Aneurysms of the internal mammary artery are extremely rare, and their presentation and treatment are variable. Since these aneurysms often tend to rupture and cause haemothorax and life-threatening conditions, the knowledge of secure treatment options is indispensable. We here report the case of an idiopathic internal mammary aneurysm in a 46-year-old man. Open surgical resection of the aneurysm was performed in this case without any complications. The postoperative course was uneventful and th...
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#1Sherene Shalhub (UW: University of Washington)H-Index: 13
#2James Hamilton Black (Johns Hopkins University)H-Index: 27
Last. Nazli B. McDonnell (NIH: National Institutes of Health)H-Index: 16
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Objective The management of arterial pathology in individuals with vascular Ehlers-Danlos syndrome (vEDS) remains a challenge. Here we describe the correlation between COL3A1 gene mutation type and the clinical phenotype in individuals with vEDS. Methods Individuals with confirmed molecular diagnoses of vEDS were enrolled in a multi-institutional natural history study. Data collected included demographics, clinical and family histories, arterial pathology (aneurysm, dissection, and rupture), ope...
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#1Hazem Alhawasli (St. Joseph Hospital)H-Index: 2
#2Amir Darki (Loyola University Medical Center)H-Index: 3
Last. Bruce E. Lewis (Loyola University Medical Center)H-Index: 25
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Marfan syndrome (MFS) is an autosomal dominant condition that is caused by abnormal synthesis of connective tissue. The syndrome classically affects the ocular, musculoskeletal, and cardiovascular systems. The most common cardiovascular manifestations include mitral valve prolapse/regurgitation and aortic aneurysms at high risk of rupture and dissection. However, internal mammary artery (IMA) true aneurysms are rarely reported. In this case report, we describe a 43-year-old male patient with MFS...
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#1Thomas MartensH-Index: 11
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#1Denise van der Linde (EUR: Erasmus University Rotterdam)H-Index: 10
#2Henk Jan Verhagen (EUR: Erasmus University Rotterdam)H-Index: 42
Last. Jolien W. Roos-Hesselink (EUR: Erasmus University Rotterdam)H-Index: 50
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Objective Aneurysms-osteoarthritis syndrome (AOS), caused by SMAD3 mutations, is a recently described autosomal-dominant syndrome characterized by arterial aneurysms, tortuosity, and aortic dissections in combination with osteoarthritis. Our objective was to evaluate the AOS-related vascular consequences in the visceral and iliac arteries and raise awareness for this aggressive syndrome among vascular specialists. Methods All AOS patients were monitored regularly according to our clinical AOS pr...
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#1Denise van der Linde (EUR: Erasmus University Rotterdam)H-Index: 10
#2Ingrid M.B.H. van de Laar (EUR: Erasmus University Rotterdam)H-Index: 15
Last. Jolien W. Roos-Hesselink (EUR: Erasmus University Rotterdam)H-Index: 50
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Objectives The purpose of this study was describe the cardiovascular phenotype of the aneurysms-osteoarthritis syndrome (AOS) and to provide clinical recommendations. Background AOS, caused by pathogenic SMAD3 variants, is a recently described autosomal dominant syndrome characterized by aneurysms and arterial tortuosity in combination with osteoarthritis. Methods AOS patients in participating centers underwent extensive cardiovascular evaluation, including imaging, arterial stiffness measuremen...
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#1Ingrid M.B.H. van de Laar (EUR: Erasmus University Rotterdam)H-Index: 15
#2Denise van der Linde (EUR: Erasmus University Rotterdam)H-Index: 10
Last. Marja W. Wessels (EUR: Erasmus University Rotterdam)H-Index: 29
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Background Aneurysmseosteoarthritis syndrome (AOS) is a new autosomal dominant syndromic form of thoracic aortic aneurysms and dissections characterised by the presence of arterial aneurysms and tortuosity, mild craniofacial, skeletal and cutaneous anomalies, and early-onset osteoarthritis. AOS is caused by mutations in the SMAD3 gene. Methods A cohort of 393 patients with aneurysms without mutation in FBN1, TGFBR1 and TGFBR2 was screened for mutations in SMAD3. The patients originated from The ...
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#1Ellen S. Regalado (University of Texas Health Science Center at Houston)H-Index: 25
#2Dongchuan Guo (University of Texas Health Science Center at Houston)H-Index: 33
Last. Dianna M. Milewicz (University of Texas Health Science Center at Houston)H-Index: 58
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Rationale:Thoracic aortic aneurysms leading to acute aortic dissections (TAAD) can be inherited in families in an autosomal dominant manner. As part of the spectrum of clinical heterogeneity of familial TAAD, we recently described families with multiple members that had TAAD and intracranial aneurysms or TAAD and intracranial and abdominal aortic aneurysms inherited in an autosomal dominant manner. Objective:To identify the causative mutation in a large family with autosomal dominant inheritance...
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#1Ellen S. Regalado (University of Texas Health Science Center at Houston)H-Index: 25
#2Sarah Medrek (University of Texas Health Science Center at Houston)H-Index: 1
Last. Dianna M. Milewicz (University of Texas Health Science Center at Houston)H-Index: 58
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A genetic predisposition for thoracic aortic aneurysms and dissections (TAAD) can be inherited in an autosomal dominant manner with decreased penetrance and variable expression. Four genes identified to date for familial TAAD account for approximately 20% of the heritable predisposition. In a cohort of 514 families with two or more members with presumed autosomal dominant TAAD, 48 (9.3%) families have one or more members who were at 50% risk to inherit the presumptive gene causing TAAD had an in...
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Cited By4
Newest
#1Renato Mertens (UC: Pontifical Catholic University of Chile)H-Index: 6
#2Fernando A. Velasquez (UC: Pontifical Catholic University of Chile)
Last. J. Ignacio Torrealba (UC: Pontifical Catholic University of Chile)
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BACKGROUND: Pathogenic SMAD3 variants are responsible for a cardiovascular phenotype, mainly thoracic aortic aneurysms and dissections. Precocious identification of the vascular risk such as aortic dilatation in mutated patients has a major impact in terms of management, particularly to avoid dissection and sudden death. These vascular damages are classically associated with premature osteoarthritis and skeletal abnormalities. However, variable expressivity and incomplete penetrance are common w...
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#1Julia Fayanne Chen (Yale University)H-Index: 1
#2Dimitra Papanikolaou (Yale University)H-Index: 1
Last. Naiem Nassiri (Yale University)H-Index: 8
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Abstract Internal mammary artery aneurysms are rare but serious clinical entities. Rupture results in hemothorax and can be life threatening. Most reported cases are pseudoaneurysms secondary to iatrogenic or traumatic causes. Noniatrogenic, nontraumatic, true internal mammary artery aneurysms have most commonly been associated with vasculitides or connective tissue disorders; rare cases have been deemed idiopathic. We describe a rare case of bilateral internal mammary artery aneurysms鈥攕uccessfu...
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#1Ellen M. Hostetler (University of Texas Health Science Center at San Antonio)H-Index: 6
#2Ellen S. Regalado (University of Texas Health Science Center at San Antonio)H-Index: 25
Last. Dianna M. Milewicz (University of Texas Health Science Center at San Antonio)H-Index: 58
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Background Pathogenic variants in SMAD3 cause thoracic aortic aneurysms and dissections, along with aneurysms and rupture of other arteries. Here, we examined differences in clinical presentation of aortic events (dissection or surgical repair of an aneurysm) with respect to age and variant type in an international cohort of individuals with SMAD3 variants. Methods Aortic status and events, vital status and clinical features were abstracted through retrospective review of medical records of 212 ...
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The Loeys-Dietz syndrome (LDS) is a connective tissue disorder affecting the cardiovascular, skeletal and ocular system. Most typically, LDS patients present with aortic aneurysms and arterial tortuosity, hypertelorism and bifid/broad uvula or cleft palate. Initially, mutations in transforming growth factor-尾 (TGF-尾) receptors (TGFBR1 and TGFBR2) were described to cause LDS, hereby leading to impaired TGF-尾 signaling. More recently, TGF-尾 ligands, TGFB2 and TGFB3, as well as intracellular downst...
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