Loeys-Dietz Syndrome

Velchev JD, Van Laer L, Luyckx I, Dietz H, Loeys B. Loeys-Dietz Syndrome. Adv Exp Med Biol. 2021;1348:251-264. Full-text for Emory users.

From: Table 11.1. Clinical features at initial diagnosis of LDS. (Velchev JD, et al., p. 253.)

  • Vascular findings
    • Arterial tortuosity 92%
      • Most common in head and neck vessels
        • Carotids (55%)
        • Vertebral (56%)
        • Intracranial (37%)
        • Ascending aorta (5%), aortic arch (10%)
        • Descending thoracic (4%) or abdominal
        • (7%) Ao, also other vessels (e.g. iliacs)
  • Aneurysms
    • Aorta
      • Root 87%
      • Ascending 27%
      • Arch 10%
      • Desc thoracic 15%
      • Abdominal 12%
    • Vessel beyond Ao 30%
MFS Marfan syndrome, LDS Loeys-Dietz syndrome, SGS Shprintzen-Goldberg syndrome
(Velchev JD, et al., p. 256.)

Loeys BL, Dietz HC. Loeys-Dietz Syndrome. 2008 Feb 28 [Updated 2018 Mar 1]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet].

“Individuals with LDS have a more aggressive vascular course (with routine involvement of vascular segments distant from the aortic root) than that observed in Marfan syndrome. Mean age at death is 26 years [Loeys et al 2006]. Attias et al [2009] reported that the proportion of individuals with aortic dilatation, the age at dissection, and the need for surgery were similar in those with a heterozygous TGFBR2 pathogenic variant and those with a heterozygous FBN1 pathogenic variant causative of Marfan syndrome; however, the rate of death was greater in families with a heterozygous TGFBR2 pathogenic variant. Similarly, a study of 228 families with a heterozygous pathogenic variant in either TGFBR1 or TGFBR2 demonstrated similar aortic risk (dissection or aortic surgery) in both groups [Jondeau et al 2016].” (Loeys, et al., p. 10-11.)

MacCarrick G, Black JH 3rd, Bowdin S, El-Hamamsy I, Frischmeyer-Guerrerio PA, Guerrerio AL, Sponseller PD, Loeys B, Dietz HC 3rd. Loeys-Dietz syndrome: a primer for diagnosis and management. Genet Med. 2014 Aug;16(8):576-87. doi: 10.1038/gim.2014.11. Free full-text.

(MacCarrick, et al., p. 578)
(MacCarrick, et al., p. 579)

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