Presentation number: MG 1
GENETIC DIAGNOSTICS LED TO PREVENTIVE ICD IMPLANTATION IN A PATIENT WITH THE BRUGADA SYNDROME FAMILY HISTORY
Kristijan Vrdoljak1, Petar Brlek1, Andrea Skelin1,2, Šime Manola3, Nikola Pavlović3, Jozica Šikić1, Gordana Matijević1, Dorijan Jagačić1, Josep Brugada4, Dragan Primorac1,5,6,7,8,9,10,11,12,13
1St. Catherine Specialty Hospital, Zagreb, Croatia, 2Genos Gycoscience Research Laboratory, Zagreb, Croatia, 3Department for Cardiovascular Diseases, University Hospital Dubrava, Zagreb, Croatia, 4Cardiovascular Institute, Hospital Clinic, University of Barcelona, Barcelona, Spain, 5Faculty of Dental Medicine and Health, Josip Juraj Strossmayer University of Osijek, Osijek, Croatia, 6Medical School, University of Rijeka, Rijeka, Croatia, 7Medical School, University of Mostar, Mostar, Bosnia and Herzegovina, 8Medical School, University of Split, Split, Croatia , 9Department of Biochemistry & Molecular Biology, The Pennsylvania State University, State College, PA, USA, 10University of New Haven, Henry C. Lee College of Criminal Justice and Forensic Sciences, West Haven, CT, USA, 11Medical School REGIOMED, Coburg, Germany, 12School of Medicine, Josip Juraj Strossmayer University of Osijek, Osijek, Croatia, 13National Forensic Sciences University, Gujarat, India
The Brugada syndrome (BrS) is a rare but potentially life-threatening heart rhythm disorder with a high incidence of sudden death in patients with structurally normal hearts. The incidence of BrS varies between 1 and 30 per 10000 people. Approximately a quarter of those with BrS have a family member who also has the condition. The affected patients may have episodes of passing out. However, abnormal heart rhythms (such as ventricular fibrillation or polymorphic ventricular tachycardia) may even result in a fatal outcome. It is an autosomal dominant inherited condition most commonly caused by the SCN5A gene. It encodes the cardiac sodium channel. At 17 years of age, our patient had been assigned with the cardiologic diagnosis of right bundle branch block and left anterior hemiblock. The patient’s father had suddenly passed away at 36 years of age (undefined etiology, but the family suspects it was heart disease). His father’s nephew had suffered from heart arrest at 38 years of age and was implanted with an implantable cardioverter-defibrillator (ICD) after he tested positive for BrS (pathogenic variant SCN5A c.4222G>A (p.Gly1408Arg)). The nephew’s children have also tested positive for BrS on genetic testing. Without notice, another close relative (grandson from his grandmother’s sister) had passed away at 22 years of age while playing basketball. The patient underwent diagnostic genetic testing that included a panel of 294 pathogenic gene variants that are associated with a risk of pathologic cardiac conditions. The results of the genetic testing confirmed one pathogenic variant of clinical significance in the SCN5A gene (c.4222G>A (p.Gly1408Arg)) that is associated with autosomal dominant BrS, long QT syndrome type 3, dilated cardiomyopathy, and atrial fibrillation. Since the patient’s clinical presentation has been asymptomatic for the BrS, the significance of the confirmed SCN5A pathogenic variant is preventive. We recommended measures to the patient to reduce the risk of sudden death due to serious abnormal heart rhythms such as ventricular fibrillation or polymorphic ventricular tachycardia. After a detailed medical examination, the patient was fitted with an implantable cardioverter-defibrillator (ICD) due to the expert’s recommendation.
Key words: Brugada syndrome, sudden cardiac death, SCN5A, implantable cardioverter-defibrillator, atrial fibrillation
Presentation number: MG 2
IMPLEMENTATION OF TAILORED PREVENTION INITIATIVES BY IMPROVING KNOWLEDGE ABOUT BREAST CANCER RISK FACTORS
Kristina Bojanić1,2,3, Sonja Vukadin1,2, Kristina Kralik2, Gordana Ivanac4, Renata Sikora1,2, Paula Percač1, Žana Opačak1, Mateja Novački1, Justinija Steiner2,3, Aleksandar Včev1,2, Robert Smolić1,2, Martina Smolić1,2
1Faculty of Dental Medicine and Health Osijek, J.J. Strossmayer University of Osijek, Osijek, 2Faculty of Medicine Osijek, J.J. Strossmayer University of Osijek, Osijek, Croatia, 3Health Center Osječko-baranjska County, Osijek, Croatia, 4University Hospital Dubrava, Zagreb, Croatia
Accurate calculation and perception of personal breast cancer (BC) risk are critical components of primary and secondary BC prevention. The aim of this study was to examine knowledge of BC risk factors and attitudes toward primary chemoprevention among women at varying BC risk. A cross-sectional, single-site study enrolled 249 Croatian women at average (AR) and high risk (HR) of BC according to the Gail model who underwent mammographic examination. All data were collected by personal interview using a validated questionnaire developed for this study (Cronbach’s alfa 0.707). The actual BC risk of each participant was compared with her self-perceived risk. Women who incorrectly estimated their BC risk were additionally divided into two groups: overestimated and underestimated groups; in cases of AR women and HR women incorrectly estimating their BC risk. A total of 249 women; median age 57 years (IQR 47-62 years) were classified into one of 2 risk groups: AR (74%) and HR (26%). 36% of women had a radiologically determined higher breast density. HR women were significantly older (Mann Whitney U test, P<0.001), had more family members with BC (chi-square test, P < 0.001), and first-degree relatives with any cancer (chi-square test, P < 0.001). Among HR women, 72.3% underestimated their BC risk. At AR, 13% of women overestimated risk, whereas 86% correctly estimated their risk. Knowledge of BC risk factors was assessed by 16 questions. Interestingly, the knowledge of higher BD as a BC risk factor was extremely low in both groups, even lower in HR women (34% vs. 38%). There were no significant differences in attitudes toward primary chemoprevention in relation to BC risk. Risk stratification and objective knowledge of true BC risk are key to a personalized approach to BC screening. Women’s awareness of BD’s impact on BC risk is poor, especially in comparison with literature data after mandatory BD information disclosure in U.S. Our results show that only 28% of HR women correctly assess their own risk. Although most of the Croatian women correctly assessed their BC risk (71% overall), the focus should be on a HR group that mostly underestimated their risk (72%) and seemed to be unrealistically optimistic. The reasons and explanations for this optimistic bias need to be thoroughly explored to improve prevention behavior change.
Key words: breast density, breast cancer, risk-based screening, personalized breast cancer risk assessment
Published: June 21st, 2022;
Copyright: © 2022 ISABS & IAR Publishing. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
