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Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys–Dietz syndrome type 1B
Author(s) -
Muramatsu Yukako,
Kosho Tomoki,
Magota Miyuki,
Yokotsuka Taro,
Ito Masatoki,
Yasuda Ayako,
Kito Osamu,
Suzuki Chizuko,
Nagata Yoshie,
Kawai Satoru,
Ikoma Masanobu,
Hatano Tameo,
Nakayama Masato,
Kawamura Rie,
Wakui Keiko,
Morisaki Hiroko,
Morisaki Takayuki,
Fukushima Yoshimitsu
Publication year - 2010
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33263
Subject(s) - medicine , intracardiac injection , cardiology , camptodactyly , ductus arteriosus , surgery , shunt (medical)
Loeys–Dietz Syndrome (LDS) is an autosomal dominant aortic aneurysm syndrome with multisystem involvement, caused by heterozygous mutations of transforming growth factor β 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. © 2010 Wiley‐Liss, Inc.