Prenatal findings of hypertrophic cardiomyopathy in a severe case of Costello syndrome

Abstract

Prenatal findings of hypertrophic cardiomyopathy in a severe case of Costello syndromeCostello syndrome (CS) is a genetic disorder (HRAS mutations) characterized by a distinctive facial appearance, loose skin, developmental delay, cardiac abnormalities and tumor predisposition [1][2][3] . Major factor, which may severely affect neonatal prognosis, is cardiac abnormalities including arrhythmia, congenital defects and hypertrophic cardiomyopathy (HCM). Here we report prenatal findings of HCM in a severe case of CS.A 26-year-old primiparous woman was referred at 12 weeks of gestation for ultrasonography, which showed increased nuchal translucency, small nasal bones, micrognathia, low-set ears, tricuspid valve regurgitation and reversed flow in the ductus venosus (DV). Chromosomal analysis by choriocentesis revealed a normal 46XX karyotype. At 22 weeks of gestation, fetal overgrowth (+2.5 standard deviations

Fetal Macrosomia, Polyhydramnios and Cardiac Anomalies may be Helpful to Predict Poor Outcome in Neonate – Case Report of a Possible Fetal Rasopathy with Sonographic and Neonatal Findings and Genetic Evaluation.

“…Based on the clinical findings, the most likely diagnosis in our case may be Costello Syndrome (Table 3) 7 , and in 2016 by Uemura 8 ( Table 2). …”

Hepatic Tumor as Antenatal Presentation of Costello Syndrome

“…Other findings include: nuchal thickening, ascites, hydrops, a small or absent stomach, short long bones, ulnar deviation of the wrists, macrosomia, macrocephaly, hepatomegaly, cardiomyopathy, and tachycardia. 1,[3][4][5][6][7][8][9] The p.Gly12Val (NM_005343.3(HRAS):c.35_36 delinsTT) pathogenic variant is a recurring CS variant that has been associated with an early, lethal form of this condition. 8 To date, 8 cases of CS caused by this particular variant have been reported, all presenting with lethal outcomes.…”

“…1,[3][4][5][6][7][8][9] The p.Gly12Val (NM_005343.3(HRAS):c.35_36 delinsTT) pathogenic variant is a recurring CS variant that has been associated with an early, lethal form of this condition. 8 To date, 8 cases of CS caused by this particular variant have been reported, all presenting with lethal outcomes. 4,5,9,10 This report is the ninth case, with initial fetal presentation of hepatic tumor, which has never previously been described as an antenatal manifestation of CS.…”

Early prenatal detection of hypertrophic cardiomyopathy in Noonan syndrome: A case to remember

“…Only isolated cases have been reported, for example, in fetuses of genetic disorders. 1 In this study, we describe HCM identified by mid-pregnancy ultrasound in a prenatal case with Noonan syndrome (NS), and this association has seldom been reported.The work was carried out according to the principles of the Declaration of Helsinki and approved by the ethics committee of Guangzhou Women and Children Medical Center. Written informed consent was obtained from the family regarding artificial pregnancy interruption.…”

“…Only isolated cases have been reported, for example, in fetuses of genetic disorders. 1 In this study, we describe HCM identified by mid-pregnancy ultrasound in a prenatal case with Noonan syndrome (NS), and this association has seldom been reported.…”