The Role of RARG rs2229774, SLC28A3 rs7853758, and UGT1A6∗4 rs17863783 Single-nucleotide Polymorphisms in the Doxorubicin-induced Cardiotoxicity in Solid Childhood Tumors

Background: The objective of our study was to determine the role of retinoic acid receptor gamma (RARG) rs2229774, SLC28A3 rs7853758, and UGT1A6∗4 rs17863783 single-nucleotide polymorphisms in identifying the risk of doxorubicin-induced cardiotoxicity in pediatric solid tumors. Methods: A total of 60 pediatric patients who had completed their treatment at least 2 years ago and 50 healthy children matched for age and sex were included in the study. All patients were evaluated for cardiotoxicity by echocardiography. The blood samples were analyzed for RARG rs2229774, SLC28A3 rs7853758, and UGT1A6∗4 rs17863783 polymorphisms. Demographic characteristics, echocardiographic parameters, and genetic results of both groups were evaluated. Results: In our study, the RARG rs2229774 AA genotype was associated with cardiotoxicity (P=0.017). The SLC28A3 rs7853758 AA+GA genotype was detected more frequently in patients who did not develop cardiotoxicity (P<0.023). Furthermore, the frequency of the SLC28A3 rs7853758 A allele was significantly lower in the cardiotoxicity group (P<0.025). Conclusions: This is the first study in the Turkish population to investigate the correlation between the cardiotoxicity risk and 3 marker genes, which are recommended in the pharmacogenetic guideline for risk assessment in pediatric doxorubicin patients. The gene polymorphism that we investigated in this study was useful for the early prediction of cardiotoxicity risk

Familial hypertrophic cardiomyopathy: A case with a new mutation in the MYBPC3 gene

- Ailesel hipertrofik kardiyomiyopati (HKM) değişken klinik özellikler gösterebilen, otozomal dominant olarak ge- çen eksik penetranslı ve genetik olarak heterojen bir has- talıktır. Kalıtsal kardiyomiyopatilerin genetiği ile ilgili gün- cel gelişmeler, b#NAME

A Rare Cause of Abdominal Pain in Childhood: Cardiac Angiosarcoma

Abstract Cardiac angiosarcomas are extremely rare in childhood, they are rapidly progressive tumours that often present themselves as diagnostic dilemmas, resulting in delayed diagnosis. Also, extracardiac manifestations, including abdominal pain, are extremely rare in patients with intracardiac tumors. We herein present the case of a 15-year-old girl who presented with abdominal pain. Echocardiography and thoracic computed tomography showed right atrial mass. The patient underwent surgery, chemotherapy, and radiotherapy. Eight months after treatment, abdominal recurrence was detected. The abdominal mass was resected, and radiotherapy and new chemotherapy protocol were given. The present case illustrates a rare case of primary cardiac angiosarcoma posing a diagnostic dilemma in an adolescent girl