Early Surgical Experience With Loeys-Dietz: A New Syndrome of Aggressive Thoracic Aortic Aneurysm Disease

Williams, Jason A.; Loeys, Bart; Nwakanma, Lois U.; Dietz, Harry C.; Spevak, Philip J.; Patel, Nishant; François, Katrien; Backer, Julie De; Gott, Vincent L.; Cameron, Duke E.

doi:10.1016/j.athoracsur.2006.10.091

Cited by 255 publications

(196 citation statements)

References 19 publications

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“…Similar to MFS, a great variability in aortic dilatation is observed amongst patients (11). When undetected and untreated, a dilatation could evolve into dissection or rupture, and has been observed as young as 3 months (32). Consequently, these complications are associated with high mortality rates.…”

Section: Cardiovascular Featuresmentioning

confidence: 87%

Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome

Meester

Verstraeten

Schepers

et al. 2017

Ann. Cardiothorac. Surg.

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228

184

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Many different heritable connective tissue disorders (HCTD) have been described over the past decades.These syndromes often affect the connective tissue of various organ systems, including heart, blood vessels, skin, joints, bone, eyes, and lungs. The discovery of these HCTD was followed by the identification of mutations in a wide range of genes encoding structural proteins, modifying enzymes, or components of the In contrast, no association is reported between LDS and the presence of ectopia lentis, a key distinguishing feature of MFS. Overlapping features between MFS and LDS include scoliosis, pes planus, anterior chest deformity, spontaneous pneumothorax, and dural ectasia. EDS refers to a group of clinically and genetically heterogeneous connective tissue disorders and all subtypes are characterized by variable abnormalities of skin, ligaments and joints, blood vessels, and internal organs. Typical presenting features include joint hypermobility, skin hyperextensibility, and tissue fragility. Up to one quarter of the EDS patients show aortic aneurysmal disease. The latest EDS nosology distinguishes 13 subtypes. Many phenotypic features show overlap between the different subtypes, which makes the clinical diagnosis rather difficult and highlights the importance of molecular diagnostic confirmation.

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Section: Cardiovascular Featuresmentioning

confidence: 87%

Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome

Meester

Verstraeten

Schepers

et al. 2017

Ann. Cardiothorac. Surg.

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228

184

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“…2,3 In patients with LDS, neurovascular aneurysms and dissections are particularly prevalent, and these may have complications in the central nervous system (CNS) that are not otherwise associated with this syndrome. [1][2][3] To our knowledge, the neuroradiologic manifestations of the LDS have not as yet been described in the neuroradiology literature. We sought to define the risks of aneurysms and dissections in the carotid and vertebrobasilar system as well as skeletal findings in the spine and skull and to assess the findings that warranted follow-up imaging for manifestations of this syndrome.…”

mentioning

confidence: 99%

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confidence: 99%

“…2 Some individuals have phenotypes that overlap Marfan syndrome. 2,3 In patients with LDS, neurovascular aneurysms and dissections are particularly prevalent, and these may have complications in the central nervous system (CNS) that are not otherwise associated with this syndrome. [1][2][3] To our knowledge, the neuroradiologic manifestations of the LDS have not as yet been described in the neuroradiology literature.…”

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confidence: 99%

“…The disease is characterized by the triad of the following: 1) arterial tortuosity, aneurysms, or dissections, 2) hypertelorism, and 3) bifid uvula or cleft palate. 1,2 It is caused by heterozygous mutations in the genes encoding transforming growth factor B (␤) receptors (TRGFBR) 1 or 2 with TG-FBR1 traced to chromosome 9q33-q34 and TGFBR2 to chromosome 3p24.…”

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confidence: 99%

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Neuroradiologic Manifestations of Loeys-Dietz Syndrome Type 1

Rodrigues¹,

Elsayed²,

Loeys³

et al. 2009

AJNR Am J Neuroradiol

102

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Multiple Facial Milia in Patients With Loeys-Dietz Syndrome

Lloyd

Braverman²,

Anadkat³

2011

Arch Dermatol

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Background: Loeys-Dietz syndrome (LDS) results from mutations in the TGFBR1 or TGFBR2 genes and is known to cause aggressive cardiovascular disease, including aortic aneurysms and dissections at an early age. Currently, craniofacial, skeletal, and cardiovascular findings play an important role in early recognition of the disease. While many patients do have recognizable cutaneous features of LDS, little information about associated skin findings has been reported. Observations: Four unrelated patients with LDS due to a mutation in the TGFBR2 gene were observed to have numerous facial milia. All 4 patients reported that the milia had been present since early childhood and had increased in number with time. In some cases, affected relatives were reported to have similar findings. Conclusions: To our knowledge, the association of LDS and facial milia has not been previously reported. Recognition of LDS is important because the aggressive aortic and arterial disease warrants early surgical therapy. Facial milia and other cutaneous findings may possibly differentiate LDS from Marfan syndrome and other related disorders, thereby facilitating early diagnosis. Interestingly, each of the 4 patients with LDS and facial milia had a mutation in TGFBR2 despite widespread variability in other features of the disease.

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Early Surgical Experience With Loeys-Dietz: A New Syndrome of Aggressive Thoracic Aortic Aneurysm Disease

Cited by 255 publications

References 19 publications

Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome

Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome

Neuroradiologic Manifestations of Loeys-Dietz Syndrome Type 1

Multiple Facial Milia in Patients With Loeys-Dietz Syndrome

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