Knowra Loeys–Dietz syndrome Loeys–Dietz syndrome Loeys–Dietz syndrome is an inherited connective tissue disorder that can cause arterial aneurysms and tortuosity, skeletal abnormalities, and characteristic craniofacial features.
Transforming growth factor beta signaling : A cellular pathway that regulates growth, differentiation, immune responses, and production of extracellular matrix. Variants associated with the syndrome affect components of this pathway, though the disease mechanism is not fully settled.
Connective tissue : Tissue that supports, connects, or separates other tissues through cells and extracellular material. Its widespread role helps explain why the syndrome affects arteries, skeleton, skin, and joints.
Echocardiography : An imaging method that uses ultrasound to show the heart and nearby structures. It helps assess the aortic root and heart valves during syndrome surveillance.
Marfan syndrome : An inherited connective tissue disorder commonly associated with aortic disease, lens dislocation, and characteristic skeletal features. It shares aortic risk with Loeys–Dietz syndrome but often has distinctive eye and skeletal findings.
Loeys–Dietz syndrome type 1 : A Loeys–Dietz syndrome subtype classically associated with pathogenic variants in TGFBR1. It illustrates how a specific gene can define a recognized subtype.
TGFBR1 : A gene encoding a receptor for transforming growth factor beta. Pathogenic variants in this gene are among the established causes of Loeys–Dietz syndrome.
Extracellular matrix : The network of proteins and other molecules surrounding cells that provides structural and biochemical support. Abnormal signaling can alter matrix maintenance, relevant to the syndrome’s tissue fragility.
Computed tomography angiography : A CT imaging technique that depicts blood vessels after contrast material is administered. It can map arterial aneurysms and tortuosity beyond the regions accessible to echocardiography.
Vascular Ehlers–Danlos syndrome : A rare inherited disorder of type III collagen associated with fragile arteries, hollow organs, and skin. Both disorders can cause arterial events, but vascular Ehlers–Danlos syndrome has a different molecular basis and tissue profile.
Loeys–Dietz syndrome type 2 : A Loeys–Dietz syndrome subtype classically associated with pathogenic variants in TGFBR2. Its designation links a distinct gene-associated presentation to the broader syndrome.
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