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Key Points

  • Disease summary:

    • Loeys-Dietz syndrome (LDS) is a connective tissue disorder characterized by vascular features (aortic aneurysm or dissection and arterial tortuosity with risk of aneurysm throughout the arterial tree) in addition to a variety of skeletal (scoliosis, pectus deformity, joint laxity, clubfoot or varus deformities, cervical spine instability) and cutaneous features (skin translucency, hernias, abnormal scarring). A proportion of individuals who come to medical attention at young ages have severe craniofacial anomalies (craniosynostosis, cleft palate, hypertelorism) typically associated with more severe vascular disease. The spectrum of physical manifestations is broad.

    • LDS is caused by mutations in TGFBR1, TGFBR2, SMAD3, and TGFB2 genes.

  • Hereditary basis:

    • LDS is an autosomal dominant disorder.

  • Differential diagnosis:

    • It is important to differentiate between LDS and other aortic aneurysm syndromes as systemic manifestations, imaging management, and surgical intervention guidelines differ according to diagnosis.

Diagnostic Criteria and Clinical Characteristics

Diagnostic Criteria

Diagnostic criteria have not been established. Molecular genetic testing plays an important role in distinguishing LDS from other aortic aneurysm syndromes. For the differential diagnosis for LDS, see Table 29-1.

Table 29-1Genetic Differential Diagnosis

Clinical Characteristics


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