title: Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz syndrome type 1B.
abstract: Loeys-Dietz Syndrome (LDS) is an autosomal dominant aortic aneurysm syndrome with multisystem involvement, caused by heterozygous mutations of transforming growth factor beta receptor type 1 (TGFBR1) or type 2 (TGFBR2) genes. We report on a neonate with the disorder caused by a known TGFBR2 mutation, who developed neonatal-onset progressive dilation of the aortic valve and aneurysms of the aortic root and main pulmonary artery (PA) associated with a large left-to-right shunt via a ventricular septal defect (VSD) and an atrial septal defect. He also had skeletal features (flexion contractures of the fingers, talipes equinovarus, a cleft palate, and joint laxity), mild facial dysmorphisms, and developmental delay. The dilation and aneurysms progressed after PA banding at age 12 days; and the patient received an intracardiac repair of the defects and PA plasty at age 42 days, followed by no further progression of the dilation and the aneurysms. Neonates with generalized hypotonia, a cleft palate, inguinal herniae, musculoskeletal features such as camptodactyly and talipes equinovarus, and a cardiac murmur should be suspected to have LDS, and extensive cardiovascular evaluation and testing of TGFBR1 and TGFBR2 are recommended. LDS patients with cardiac defects that lead to a large left-to-right shunt and congestive heart failure such as VSD should be considered for intracardiac repair even in early infancy.
authors.affiliation: Department of Neonatology, Japanese Red Cross Nagoya Daiichi Hospital, Nagoya, Japan.
authors.forename: Yukako
authors.initials: Y
authors.lastname: Muramatsu
authors.forename: Tomoki
authors.initials: T
authors.lastname: Kosho
authors.forename: Miyuki
authors.initials: M
authors.lastname: Magota
authors.forename: Taro
authors.initials: T
authors.lastname: Yokotsuka
authors.forename: Masatoki
authors.initials: M
authors.lastname: Ito
authors.forename: Ayako
authors.initials: A
authors.lastname: Yasuda
authors.forename: Osamu
authors.initials: O
authors.lastname: Kito
authors.forename: Chizuko
authors.initials: C
authors.lastname: Suzuki
authors.forename: Yoshie
authors.initials: Y
authors.lastname: Nagata
authors.forename: Satoru
authors.initials: S
authors.lastname: Kawai
authors.forename: Masanobu
authors.initials: M
authors.lastname: Ikoma
authors.forename: Tameo
authors.initials: T
authors.lastname: Hatano
authors.forename: Masato
authors.initials: M
authors.lastname: Nakayama
authors.forename: Rie
authors.initials: R
authors.lastname: Kawamura
authors.forename: Keiko
authors.initials: K
authors.lastname: Wakui
authors.forename: Hiroko
authors.initials: H
authors.lastname: Morisaki
authors.forename: Takayuki
authors.initials: T
authors.lastname: Morisaki
authors.forename: Yoshimitsu
authors.initials: Y
authors.lastname: Fukushima
mesh_terms: D000328:Adult; D001014:Aortic Aneurysm / Q000175:diagnosis* / Q000235:genetics* / Q000601:surgery; D001021:Aortic Valve / Q000473:pathology; D004252:DNA Mutational Analysis; D005091:Exons; D006333:Heart Failure / Q000235:genetics / Q000601:surgery; D006801:Humans; D007223:Infant; D055947:Loeys-Dietz Syndrome / Q000175:diagnosis* / Q000235:genetics* / Q000601:surgery; D018810:Magnetic Resonance Angiography / Q000379:methods; D008297:Male; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D011651:Pulmonary Artery / Q000473:pathology* / Q000601:surgery; D000077294:Receptor, Transforming Growth Factor-beta Type II; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics; D013997:Time Factors; D016896:Treatment Outcome
chemical_list: D018125:Receptors, Transforming Growth Factor beta; D017346:Protein Serine-Threonine Kinases; D000077294:Receptor, Transforming Growth Factor-beta Type II