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
INTRODUCTION Cardiovascular system involvement is an important determinant of long-term prognosis in patients with systemic lupus erythematosus(SLE).Aneurysmal dilatation of the aortic root combined with Stanford type...INTRODUCTION Cardiovascular system involvement is an important determinant of long-term prognosis in patients with systemic lupus erythematosus(SLE).Aneurysmal dilatation of the aortic root combined with Stanford type A aortic dissection(TAAD)is a highly catastrophic complication in these patients.展开更多
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.
文摘INTRODUCTION Cardiovascular system involvement is an important determinant of long-term prognosis in patients with systemic lupus erythematosus(SLE).Aneurysmal dilatation of the aortic root combined with Stanford type A aortic dissection(TAAD)is a highly catastrophic complication in these patients.
