BACKGROUND Loeys-Dietz syndrome(LDS)is a rare autosomal dominant syndrome characterized by heterozygous mutations causing multisystemic alterations.It was recently described in 2005,and today at least six different su...BACKGROUND Loeys-Dietz syndrome(LDS)is a rare autosomal dominant syndrome characterized by heterozygous mutations causing multisystemic alterations.It was recently described in 2005,and today at least six different subtypes have been identified.Classically presenting with aortic root enlargement or aneurysms and craniofacial and skeletal abnormalities,with specific arterial tortuosity at any site.The differential diagnosis of LDS includes atypical Marfan syndrome,vascular Ehlers-Danlos syndrome,Shprintzen-Goldberg craniosynostosis,and familial aortic aneurysm and dissection syndrome.CASE SUMMARY We present a case study of a 35-year-old female who came to the emergency department due to lower gastrointestinal bleeding and severe abdominal pain.Computed tomography revealed vascular tortuosity in almost every abdominal vein.CONCLUSION This case report will help us analyze the infrequent presentation of LDS type 4 and the numerous complications that it implies,underlying the importance of publishing more cases in order to expand our knowledge and offer better treatment for these patients.Differential diagnosis,clinical presentation and treatment options for this syndrome are discussed in this article.展开更多
Loeys-Dietz syndrome （LDS, OMIM #609192） is a recently recognized connective tissue disorder with clinical characteristics similar to Marfan syndrome. Aggressive aortic pathologies in LDS makes timely diagnosis and ...Loeys-Dietz syndrome （LDS, OMIM #609192） is a recently recognized connective tissue disorder with clinical characteristics similar to Marfan syndrome. Aggressive aortic pathologies in LDS makes timely diagnosis and surgical intervention crucial compared to other genetic syndromes. We report a young man with LDS confirmed by genetic testing who twice underwent surgical operations to repair aortic aneurysm.展开更多
In clinical practice,a variety of syndromes are associated with cardiovascular disease and have characteristic findings.Most of them are an autosomal dominant genetic disorder and have different types of cardiovascula...In clinical practice,a variety of syndromes are associated with cardiovascular disease and have characteristic findings.Most of them are an autosomal dominant genetic disorder and have different types of cardiovascular abnormalities,including electrocardiographic conduction defects,arrhythmias,cardiomyopathy,vascular and valvular diseases,cardiac septal defects,and pulmonary problems.There is a growing need for physicians to pay more attention to these syndromes.展开更多
The Loeys-Dietz syndrome (LDS) is a connective tissue disorder that is associated with vascular abnormalities, including aggressive aortic aneurysms, as well as skeletal and craniofacial malformations. The molecular m...The Loeys-Dietz syndrome (LDS) is a connective tissue disorder that is associated with vascular abnormalities, including aggressive aortic aneurysms, as well as skeletal and craniofacial malformations. The molecular mechanism of this syndrome remains to be fully elucidated. In this case, we describe a 29-year-old woman, gravida 2 para 1, who was referred for consultation after urinary tract malformations were observed during her mid-gestation anatomic survey. Following referral to our unit, ultrasound examination of the 21-week fetus was repeated. The fetus was observed to have a dilated aortic root and a poorly ossified sternum with mild pectus deformity. After elective termination, single nucleotide polymorphism microarray testing identified a novel 204 kb microdeletion involving the short arm of chromosome 3. The deleted genetic material included 4 exons of the TGFBR2 gene. Although the phenotype of LDS may be caused by haploinsufficiency of the TGFBR1 or TGFBR2 gene, our experience suggests a more complex picture of LDS. The study of such cases might further elucidate its pathogenesis.展开更多
文摘BACKGROUND Loeys-Dietz syndrome(LDS)is a rare autosomal dominant syndrome characterized by heterozygous mutations causing multisystemic alterations.It was recently described in 2005,and today at least six different subtypes have been identified.Classically presenting with aortic root enlargement or aneurysms and craniofacial and skeletal abnormalities,with specific arterial tortuosity at any site.The differential diagnosis of LDS includes atypical Marfan syndrome,vascular Ehlers-Danlos syndrome,Shprintzen-Goldberg craniosynostosis,and familial aortic aneurysm and dissection syndrome.CASE SUMMARY We present a case study of a 35-year-old female who came to the emergency department due to lower gastrointestinal bleeding and severe abdominal pain.Computed tomography revealed vascular tortuosity in almost every abdominal vein.CONCLUSION This case report will help us analyze the infrequent presentation of LDS type 4 and the numerous complications that it implies,underlying the importance of publishing more cases in order to expand our knowledge and offer better treatment for these patients.Differential diagnosis,clinical presentation and treatment options for this syndrome are discussed in this article.
文摘Loeys-Dietz syndrome （LDS, OMIM #609192） is a recently recognized connective tissue disorder with clinical characteristics similar to Marfan syndrome. Aggressive aortic pathologies in LDS makes timely diagnosis and surgical intervention crucial compared to other genetic syndromes. We report a young man with LDS confirmed by genetic testing who twice underwent surgical operations to repair aortic aneurysm.
文摘In clinical practice,a variety of syndromes are associated with cardiovascular disease and have characteristic findings.Most of them are an autosomal dominant genetic disorder and have different types of cardiovascular abnormalities,including electrocardiographic conduction defects,arrhythmias,cardiomyopathy,vascular and valvular diseases,cardiac septal defects,and pulmonary problems.There is a growing need for physicians to pay more attention to these syndromes.
文摘The Loeys-Dietz syndrome (LDS) is a connective tissue disorder that is associated with vascular abnormalities, including aggressive aortic aneurysms, as well as skeletal and craniofacial malformations. The molecular mechanism of this syndrome remains to be fully elucidated. In this case, we describe a 29-year-old woman, gravida 2 para 1, who was referred for consultation after urinary tract malformations were observed during her mid-gestation anatomic survey. Following referral to our unit, ultrasound examination of the 21-week fetus was repeated. The fetus was observed to have a dilated aortic root and a poorly ossified sternum with mild pectus deformity. After elective termination, single nucleotide polymorphism microarray testing identified a novel 204 kb microdeletion involving the short arm of chromosome 3. The deleted genetic material included 4 exons of the TGFBR2 gene. Although the phenotype of LDS may be caused by haploinsufficiency of the TGFBR1 or TGFBR2 gene, our experience suggests a more complex picture of LDS. The study of such cases might further elucidate its pathogenesis.
