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Loeys-Dietz, syndrome
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Very rare (1/106). Autosomal dominant transmission with variable expressivity.
There are 5 subtypes:
- type I (Furlong disease): mutation of the TGFBR1 gene (transforming growth factor beta receptor) (9q22.33)
- type II: mutation of the TGFBR2 gene (3p24.1)
- type III: mutation of the SMAD3 gene (15q22.33): osteochondritis and osteoarthritis
- type IV: mutation of the TGFB2 gene (1q41), formerly Marfan syndrome type 2 : inguinal hernias and club feet
- type V: mutation of the TGFB3 gene (14q24.3)
The main feature is the association of:
- widespread arterial tortuosity most often at the level of the cervical vessels
- dissecting aneurysms, including aortic ones in childhood
- hypertelorism
- and cleft palate (or bifid uvula).
Possible clinical presentation:
- craniosynostosis
- malar hypoplasia with micro-retrognathia
- brain abnormalities (Arnold-Chiari malformation)
- mental retardation,
- ligamentar hyperlaxity with arachnodactyly
- transparent, velvet looking skin
- scoliosis
- pectus excavatum or carinatum
- heart abnormalities: ductus arteriosus, ASD, bicuspid aortic
- eye anomalies: myopia, retinal detachment, dislocation of lens
- ectasies in the dura mater at the level of the spinal canal.
Patients with type I have craniofacial anomalies (craniosynostosis) while those with type II show only anomalies of the uvula; in addition, vascular manifestations occur earlier in type I.
Treatment: monitoring of the development of aneurysms: cardiac and aortic echography every 6 months. Losartan treatment as there is an increase in TGF beta at the level of the vessels.
Differential diagnosis: Marfan syndrome and Shprintzen-Goldberg syndrome.
Anesthetic implications:
fragile arteries (echoguided central venous puncture), risk of difficult intubation (20 %), verify the absence of Arnold-Chiari malformation. Recent (less than 6 months) echocardiography. Stop Losartan or any other angiotensin II receptor blocker at least 12 h before anesthesia as there is a major risk of cardiovascular collapse. Risk of major hemodynamic instability during surgery for scoliosis, notably during the phases of the derotation of the spine.
Reference:
- Kuisle AM, Gauguet S, Karlin LI, Dauber A, McCann ME.
Postoperative adrenal crisis in an adolescent with Loeys-Dietz syndrome and undiagnosed adrenoleukodystrophy.
Can J Anesth 2001; 58: 392-5.
- Bunting AC, Bould MD.
Hemodynamic instability during anesthesia in an adolescent with Loeys-Dietz syndrome: a case report.
Pediatr Anesth 2014; 24: 24:1302-1304
- De Potter J-M, Edouard T, Amadieu R, Plaisancié J, Julia S, Hadeed K, Hascoët S, Acar P, Dulac Y.
Syndrome de Loeys-Dietz (mutation TGFâR2) chez une enfant de 4 ans avec anévrysme de l’aorte thoracique.
Arch Pédiatr 2016 ; 23 : 50-7.
- Kapoor R, Mann DG, Mossad AB.
Perioperative anesthetic management for Cesarean delivery in a parturient with type IV Loeys-Dietz syndrome: a case report.
A&A Case Reports 2017; 9:182-5.
- Kamikado Y, Mihara T, Ka K.
Anesthetic management of a pediatric patient with Loeys-Dietz syndrome : a case report.
Pediatr Anesth 2019;29:875-77
- Fideler F, Magunia H, Grasshoff C.
Cardiovascular risks in patients with Loeys-Dietz syndrome.
Anesthesiology 2020, 132:1554
- Berger JA, Huh DD, Lee T, Wadia RS, Bembea MM, Goswani DK.
Perioperative management and considerations in pediatric patients with connective tissue disorders undergoing cardiac surgery.
Pediatr Anesth 2021 ; 31 : 820-6.
- Xia J, Cheng G, He Y, Wang J, Lu W, Ma X.
Imaging appearance of atypical aortic dissection in a 7-year-old boy with Loeys-Dietz syndrome.
J Clin Ultrasound 2022 ; 50:1401 -2.
Updated: April 2023