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1.
AJP Rep ; 9(4): e357-e360, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31754548

RESUMO

In fetuses, the Eustachian valve directs oxygenated blood returning from the inferior vena cava into the left atrium via the foramen ovale. If too large, the Eustachian valve can restrict right ventricular inflow, as well as induce postnatal cyanosis via an interatrial right-to-left shunt. We report a fetal case of postnatal amelioration of the tricuspid valve and right ventricle hypoplasia, despite significant right ventricular hypoplasia associated with a large Eustachian valve. Application of an appropriate respiratory management regimen to help reduce pulmonary vascular resistance is of particular importance for the reversal of the right-to-left shunt via the foramen ovale and associated increases in right ventricular inflow.

2.
J Med Case Rep ; 13(1): 340, 2019 Nov 22.
Artigo em Inglês | MEDLINE | ID: mdl-31753000

RESUMO

BACKGROUND: Kagami-Ogata syndrome is also known as paternal uniparental disomy 14 and related disorders and is caused by abnormal genomic imprinting in the long arm of the chromosome 14q32.2 region. Its clinical manifestations include polyhydramnios in the fetal stage, respiratory insufficiency because of a small thorax, abdominal wall abnormalities, and peculiar facial features after birth. CASE PRESENTATION: A 38-year-old Japanese primigravida woman was referred to our hospital in the 19th week of pregnancy for suspected omphalocele. She had a history of hypothyroidism but was prescribed orally administered levothyroxine (50 µg/day) prior to conception and was euthyroid. Her ultrasound scan prior to visiting our hospital revealed fetal omphalocele, heavy for date, and polyhydramnios. The mother was advised to be admitted for observation from 28 weeks of gestation for threatened premature delivery. She required amniodrainage at 29 and 32 weeks of gestation. At 35 weeks of gestation, the fetal membrane prematurely ruptured and she gave birth after an emergency Cesarean section. The infant was a male child with a birth weight of 3188 g, and was suspected to have Kagami-Ogata syndrome after birth based on thoracic hypoplasia, swallowing function abnormalities, and peculiar facial features. A definitive diagnosis was established by performing genetic testing of the infant after obtaining informed written consent from both the parents; the results of the genetic testing revealed hypermethylated intergenic-differentially methylated region and maternally expressed gene 3-differentially methylated region in the corresponding chromosome 14 region. Both the parents were genetically tested after adequate genetic counseling, which revealed a de novo microdeletion in a differentially methylated region. CONCLUSION: Kagami-Ogata syndrome should have been suspected because of the presence of polyhydramnios and omphalocele during pregnancy. Respiratory insufficiency soon after birth, because of a small thorax, is expected in this disease and a diagnosis during pregnancy may have enabled appropriate care after birth.


Assuntos
Anormalidades Múltiplas/diagnóstico por imagem , Transtornos Cromossômicos/embriologia , Hérnia Umbilical/diagnóstico por imagem , Poli-Hidrâmnios/diagnóstico por imagem , Síndrome , Anormalidades Múltiplas/embriologia , Adulto , Povo Asiático , Cesárea , Transtornos Cromossômicos/diagnóstico por imagem , Cromossomos Humanos Par 14 , Anormalidades Craniofaciais , Feminino , Aconselhamento Genético , Impressão Genômica , Hérnia Umbilical/embriologia , Hérnia Umbilical/patologia , Humanos , Lactente , Recém-Nascido , Deficiência Intelectual , Masculino , Poli-Hidrâmnios/genética , Gravidez , Nascimento Prematuro
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