Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz syndrome type 1B.
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.
Muramatsu
Yukako
Y
Department of Neonatology, Japanese Red Cross Nagoya Daiichi Hospital, Nagoya, Japan.
Kosho
Tomoki
T
Magota
Miyuki
M
Yokotsuka
Taro
T
Ito
Masatoki
M
Yasuda
Ayako
A
Kito
Osamu
O
Suzuki
Chizuko
C
Nagata
Yoshie
Y
Kawai
Satoru
S
Ikoma
Masanobu
M
Hatano
Tameo
T
Nakayama
Masato
M
Kawamura
Rie
R
Wakui
Keiko
K
Morisaki
Hiroko
H
Morisaki
Takayuki
T
Fukushima
Yoshimitsu
Y
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
D018125:Receptors, Transforming Growth Factor beta; D017346:Protein Serine-Threonine Kinases; D000077294:Receptor, Transforming Growth Factor-beta Type II