Impaired Systolic Function in Loeys-Dietz Syndrome
نویسندگان
چکیده
منابع مشابه
Impaired systolic function in Loeys-Dietz syndrome: a novel cardiomyopathy?
Loeys-Dietz syndrome (LDS) is a recently described autosomal dominant genetic syndrome caused by mutations in the gene encoding transforming growth factorreceptor 1 or 21 with no known cardiac involvement. Common characteristics include aortic and arterial aneurysms or dissections, orbital hypertelorism, and cleft palate or bifid uvula. We report the first case of a cardiomyopathy associated wi...
متن کاملNeuroradiologic Manifestations of Loeys - Dietz Syndrome Type
V.J. Rodrigues S. Elsayed B.L. Loeys H.C. Dietz D.M. Yousem BACKGROUND AND PURPOSE: Loeys-Dietz syndrome (LDS) is a recently described entity that has the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Its neuroradiologic manifestations have not been well delineated. We sought to describe the neuroradiologic features of LDS and to assess the manifest...
متن کاملPrenatal diagnosis of Loeys-Dietz syndrome.
Introduction ▼ Loeys–Dietz is an 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) (B.L. Loeys ...
متن کاملLoeys-dietz Syndrome: Perioperative Anesthesia Considerations.
Loeys-Dietz syndrome (LDS) is a rare autosomal dominant disease related to genetic mutations in receptors for the cytokine transforming growth factor-receptor type 1 (TGFB-R1) or 2 gene (TGFB-R2) on the cell surface. LDS results in abnormal protein synthesis and dysfunctional connective tissue, which can result in unique cardiovascular anesthesia challenges related to perioperative management. ...
متن کاملImaging findings in a child with Loeys-Dietz syndrome.
A 3-year-old boy being followed up for bilateral club foot underwent a routine thorax radiography that revealed aortic arch enlargement. Echocardiography showed sinus of Valsalva dilatation. Because of clinical features such as hypertelorism, bifid uvula, and prominent forehead, a genetic investigation was conducted that confirmed Loeys-Dietz syndrome (LDS) by identifying a heterozygous mutatio...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Circulation: Heart Failure
سال: 2009
ISSN: 1941-3289,1941-3297
DOI: 10.1161/circheartfailure.109.888636