Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz Syndrome type 1B

Yukako Muramatsu, Tomoki Kosho, Miyuki Magota, Taro Yokotsuka, Masatoki Ito, Ayako Yasuda, Osamu Kito, Chizuko Suzuki, Yoshie Nagata, Satoru Kawai, Masanobu Ikoma, Tameo Hatano, Masato Nakayama, Rie Kawamura, Keiko Wakui, Hiroko Morisaki, Takayuki Morisaki, Yoshimitsu Fukushima

Research output: Contribution to journalArticle

19 Citations (Scopus)

Abstract

Loeys-Dietz Syndrome (LDS) is an autosomal dominant aortic aneurysm syndrome with multisystem involvement, caused by heterozygous mutations of transforming growth factor b 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 (ASD). 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.

Original languageEnglish
Pages (from-to)417-421
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume152
Issue number2
DOIs
Publication statusPublished - 01-02-2010

Fingerprint

Loeys-Dietz Syndrome
Pulmonary Artery
Aneurysm
Clubfoot
Dilatation
Growth Factor Receptors
Aortic Aneurysm
Ventricular Heart Septal Defects
Cleft Palate
Transforming Growth Factors
Newborn Infant
Joint Instability
Heart Murmurs
Mutation
Muscle Hypotonia
Atrial Heart Septal Defects
Inguinal Hernia
Contracture
Aortic Valve
Fingers

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Muramatsu, Y., Kosho, T., Magota, M., Yokotsuka, T., Ito, M., Yasuda, A., ... Fukushima, Y. (2010). Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz Syndrome type 1B. American Journal of Medical Genetics, Part A, 152(2), 417-421. https://doi.org/10.1002/ajmg.a.33263
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. / Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz Syndrome type 1B. In: American Journal of Medical Genetics, Part A. 2010 ; Vol. 152, No. 2. pp. 417-421.
@article{845a0f39e6b747a99e29d4ff4620a046,
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 b 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 (ASD). 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.",
author = "Yukako Muramatsu and Tomoki Kosho and Miyuki Magota and Taro Yokotsuka and Masatoki Ito and Ayako Yasuda and Osamu Kito and Chizuko Suzuki and Yoshie Nagata and Satoru Kawai and Masanobu Ikoma and Tameo Hatano and Masato Nakayama and Rie Kawamura and Keiko Wakui and Hiroko Morisaki and Takayuki Morisaki and Yoshimitsu Fukushima",
year = "2010",
month = "2",
day = "1",
doi = "10.1002/ajmg.a.33263",
language = "English",
volume = "152",
pages = "417--421",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "2",

}

Muramatsu, Y, Kosho, T, Magota, M, Yokotsuka, T, Ito, M, Yasuda, A, Kito, O, Suzuki, C, Nagata, Y, Kawai, S, Ikoma, M, Hatano, T, Nakayama, M, Kawamura, R, Wakui, K, Morisaki, H, Morisaki, T & Fukushima, Y 2010, 'Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz Syndrome type 1B', American Journal of Medical Genetics, Part A, vol. 152, no. 2, pp. 417-421. https://doi.org/10.1002/ajmg.a.33263

Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz Syndrome type 1B. / 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.

In: American Journal of Medical Genetics, Part A, Vol. 152, No. 2, 01.02.2010, p. 417-421.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz Syndrome type 1B

AU - Muramatsu, Yukako

AU - Kosho, Tomoki

AU - Magota, Miyuki

AU - Yokotsuka, Taro

AU - Ito, Masatoki

AU - Yasuda, Ayako

AU - Kito, Osamu

AU - Suzuki, Chizuko

AU - Nagata, Yoshie

AU - Kawai, Satoru

AU - Ikoma, Masanobu

AU - Hatano, Tameo

AU - Nakayama, Masato

AU - Kawamura, Rie

AU - Wakui, Keiko

AU - Morisaki, Hiroko

AU - Morisaki, Takayuki

AU - Fukushima, Yoshimitsu

PY - 2010/2/1

Y1 - 2010/2/1

N2 - Loeys-Dietz Syndrome (LDS) is an autosomal dominant aortic aneurysm syndrome with multisystem involvement, caused by heterozygous mutations of transforming growth factor b 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 (ASD). 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.

AB - Loeys-Dietz Syndrome (LDS) is an autosomal dominant aortic aneurysm syndrome with multisystem involvement, caused by heterozygous mutations of transforming growth factor b 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 (ASD). 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.

UR - http://www.scopus.com/inward/record.url?scp=75449094019&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=75449094019&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.33263

DO - 10.1002/ajmg.a.33263

M3 - Article

C2 - 20101701

AN - SCOPUS:75449094019

VL - 152

SP - 417

EP - 421

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 2

ER -