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https://doi.org/10.21860/medflum2020_237307

Bifid cardiac apex in Pallister-Killian syndrome: case report

Anita Barišić ; Faculty of medicine, University of Rijeka, Department of Medical Biology and Genetics, B. Branchetta 20, 51000 Rijeka, Croatia
Aleks Finderle ; Clinical Hospital Center Rijeka, Department of Obstetrics and Gynecology, Krešimirova 42, 51000 Rijeka, Croatia
Oleg Petrović ; Clinical Hospital Center Rijeka, Department of Obstetrics and Gynecology, Krešimirova 42, 51000 Rijeka, Croatia
Jadranka Vraneković orcid.org/0000-0001-6365-5686 ; Faculty of medicine, University of Rijeka, Department of Medical Biology and Genetics, B. Branchetta 20, 51000 Rijeka, Croatia

Abstract

Aim: Pallister-Killian syndrome (PKS) is a rare chromosomal disorder, caused by tissue-limited mosaicism for an isochromosome 12p. Prenatal diagnosis of PKS is generally incidental. Although clinical presentation of PKS varies, cytogenetic findings are constant, and include a tetrasomy of chromosome 12p. We report a case of prenatally diagnosed PKS with unique dysmorphic feature: bifid cardiac apex, a type of morphology that has not been documented before. Case presentation: Our patient was the 38-year-old pregnant woman who underwent amniocentesis. Cytogenetic analysis of amniotic fluid detected a mosaic karyotype with a supernumerary chromosome (SMC) in 64 % of fetal amniocytes. To determine the chromosomal origin of SMC, fluorescence in situ hybridization was performed and tetrasomy 12p was confirmed: mos 47,XY,+mar[18]/46,XY[10].ishi(12p)(8M16/SP6++,CEP12+,VIJyRM2196-). Ultrasound examination showed a fetus with cleft lip, echogenic focus in the left ventricle of the heart and shortened fetal long bones. After receiving a genetic counseling for PKS, the woman requested a termination of pregnancy. A postmortem inspection of the fetus revealed a complex heart anomaly that includes bifid cardiac apex and ventricular septal defect. Conclusions: This report expands the clinical manifestations of PKS with a unique feature of bifid cardiac apex, and highlights the targeted prenatal diagnosis of PKS if specific ultrasound markers are present.

Keywords

bifid cardiac apex; Pallister Killian syndrome; prenatal diagnosis; ultrasound examination

Hrčak ID:

237307

URI

https://hrcak.srce.hr/237307

Publication date:

1.6.2020.

Article data in other languages: croatian

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