Heart failure is a leading cause of morbidity and mortality. Around 4% of patients with heart failure carry a pathogenic genetic aberration that causes cardiomyopathy and subsequently leads to heart failure. There are five types of primary genetic cardiomyopathies that can give rise to heart failure: hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy, arrhythmogenic cardiomyopathy (ACM), restrictive cardiomyopathy (RCM), and left ventricular noncompaction (LVNC). If genetic cardiomyopathy is suspected, genomic/genetic testing is recommended because it provides the underlying cause for the diagnosis, prognostic parameters, and possibility to test family members at risk. Testing should be conducted as part of a multidisciplinary approach by a team of adult or paediatric cardiologists, geneticists, and genetic counsellors. Here we will discuss 1) different genomic testing approaches and the management of variants of uncertain significance, 2) management of patients with suspected genetic cardiomyopathy in a multidisciplinary team, and 3) the associations between genotypes and phenotypes of most commonly mutated genes such as MYH7, TNNT2, TPM1, MYBPC3, TTN, and others. In conclusion, genetic testing of patients with cardiomyopathies helps with proper diagnosis, prognosis, treatment, and identification of relatives at risk.
{"title":"GENETICS OF CARDIOMYOPATHY","authors":"A. Kurtovic-Kozaric","doi":"10.5644/pi2021.199.01","DOIUrl":"https://doi.org/10.5644/pi2021.199.01","url":null,"abstract":"Heart failure is a leading cause of morbidity and mortality. Around 4% of patients with heart failure carry a pathogenic genetic aberration that causes cardiomyopathy and subsequently leads to heart failure. There are five types of primary genetic cardiomyopathies that can give rise to heart failure: hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy, arrhythmogenic cardiomyopathy (ACM), restrictive cardiomyopathy (RCM), and left ventricular noncompaction (LVNC). If genetic cardiomyopathy is suspected, genomic/genetic testing is recommended because it provides the underlying cause for the diagnosis, prognostic parameters, and possibility to test family members at risk. Testing should be conducted as part of a multidisciplinary approach by a team of adult or paediatric cardiologists, geneticists, and genetic counsellors. Here we will discuss 1) different genomic testing approaches and the management of variants of uncertain significance, 2) management of patients with suspected genetic cardiomyopathy in a multidisciplinary team, and 3) the associations between genotypes and phenotypes of most commonly mutated genes such as MYH7, TNNT2, TPM1, MYBPC3, TTN, and others. In conclusion, genetic testing of patients with cardiomyopathies helps with proper diagnosis, prognosis, treatment, and identification of relatives at risk.","PeriodicalId":244112,"journal":{"name":"Diagnostics in Cardiology and Grown-Up Congenital Heart Disease (GUCH)","volume":"14 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123949361","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Cardiovascular medicine is an area of clinical practice with a continually rapid expansion of knowledge, guidelines, best practices and new technology in adult cardiovascular medicine as well as in paediatric cardiology medicine. Cardiovascular diseases (CVD) are the leading cause of mortality in the world and cause major costs for the health sector and economy. Cardiovascular imaging indices have a significant impact on the prevention, diagnosis, and treatment of cardiac diseases. Advanced imaging technologies have dramatically improved our ability to detect and treat cardiovascular disease at an early stage. Multimodality imaging techniques - echocardiogram, cardiac computerized tomography, magnetic resonance imaging, simulation 3D models, artificial intelligence - are being used more frequently as their utility is better appreciated. Coronavirus disease 2019 (COVID-19) exerts an unprecedented global impact on public health and health care delivery. Severe acute respiratory syndrome coronavirus 2 (SARSCoV-2) causing COVID-19 has reached pandemic levels since March 2020. Patients with cardiovascular (CV) risk factors and established CVD represent a vulnerable population when suffering from COVID-19, and have an increased risk of morbidity and mortality. Severe COVID-19 infection is associated with myocardial damage and cardiac arrhythmia. Diagnostic workup during SARS infection revealed electrocardiographic changes, sub-clinical left ventricular (LV) diastolic impairment and troponin elevation. All professionals in cardiovascular medicine, as a part of lifelong learning process, have the continuous imperative in reviewing novelties, with results data from numerous researches in order to treat all patients according to best practices and evidence-based medicine, especially on this journey through corona pandemic.
{"title":"UPDATE IN DIAGNOSTICS CARDIOLOGY","authors":"S. Mesihović-Dinarević","doi":"10.5644/pi2021.199.02","DOIUrl":"https://doi.org/10.5644/pi2021.199.02","url":null,"abstract":"Cardiovascular medicine is an area of clinical practice with a continually rapid expansion of knowledge, guidelines, best practices and new technology in adult cardiovascular medicine as well as in paediatric cardiology medicine. Cardiovascular diseases (CVD) are the leading cause of mortality in the world and cause major costs for the health sector and economy. Cardiovascular imaging indices have a significant impact on the prevention, diagnosis, and treatment of cardiac diseases. Advanced imaging technologies have dramatically improved our ability to detect and treat cardiovascular disease at an early stage. Multimodality imaging techniques - echocardiogram, cardiac computerized tomography, magnetic resonance imaging, simulation 3D models, artificial intelligence - are being used more frequently as their utility is better appreciated. Coronavirus disease 2019 (COVID-19) exerts an unprecedented global impact on public health and health care delivery. Severe acute respiratory syndrome coronavirus 2 (SARSCoV-2) causing COVID-19 has reached pandemic levels since March 2020. Patients with cardiovascular (CV) risk factors and established CVD represent a vulnerable population when suffering from COVID-19, and have an increased risk of morbidity and mortality. Severe COVID-19 infection is associated with myocardial damage and cardiac arrhythmia. Diagnostic workup during SARS infection revealed electrocardiographic changes, sub-clinical left ventricular (LV) diastolic impairment and troponin elevation. All professionals in cardiovascular medicine, as a part of lifelong learning process, have the continuous imperative in reviewing novelties, with results data from numerous researches in order to treat all patients according to best practices and evidence-based medicine, especially on this journey through corona pandemic.","PeriodicalId":244112,"journal":{"name":"Diagnostics in Cardiology and Grown-Up Congenital Heart Disease (GUCH)","volume":"92 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116832136","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Despite many efforts to diagnose and treat preventable cardiovascular diseases (CVD), more specifically to detect known risk factors, these diseases continue to be the leading cause of morbidity and mortality. Bosnia and Herzegovina belongs among the high-risk countries with standardized death rate (SDR) of 385 per 100 000 inhabitants in 2018. Two leading causes of death are acute myocardial infraction, with rate around 90 deaths per 100 000 inhabitants and stroke with the rate around 80 deaths per 100 000 inhabitants in one year. Both incidents are preventable. Digital interventions are necessary for strengthening of the healthcare system. Benefits of eHealth could be seen in transmission of customized health information for different audiences: transmission of health-event alerts to a specified population group; transmission of health information based on health status or demographics; alerts and reminders to clients; transmission of diagnostic results (or of the availability of results) or even notifications and reminders for appointments, medication adherence, or follow-up services. Successful implementation of digital health requires multidisciplinary approaches, from mass dissemination of recommendations through public health education programs directly in the field, to clinical treatments for patients. All this requires the involvement of numerous actors, from the strategic to the operational level of management within the healthcare system in the country.
{"title":"DIAGNOSTICS OF PREVENTABLE DISEASES IN CARDIOLOGY","authors":"A. Pilav, A. Jogunčić","doi":"10.5644/pi2021.199.03","DOIUrl":"https://doi.org/10.5644/pi2021.199.03","url":null,"abstract":"Despite many efforts to diagnose and treat preventable cardiovascular diseases (CVD), more specifically to detect known risk factors, these diseases continue to be the leading cause of morbidity and mortality. Bosnia and Herzegovina belongs among the high-risk countries with standardized death rate (SDR) of 385 per 100 000 inhabitants in 2018. Two leading causes of death are acute myocardial infraction, with rate around 90 deaths per 100 000 inhabitants and stroke with the rate around 80 deaths per 100 000 inhabitants in one year. Both incidents are preventable. Digital interventions are necessary for strengthening of the healthcare system. Benefits of eHealth could be seen in transmission of customized health information for different audiences: transmission of health-event alerts to a specified population group; transmission of health information based on health status or demographics; alerts and reminders to clients; transmission of diagnostic results (or of the availability of results) or even notifications and reminders for appointments, medication adherence, or follow-up services. Successful implementation of digital health requires multidisciplinary approaches, from mass dissemination of recommendations through public health education programs directly in the field, to clinical treatments for patients. All this requires the involvement of numerous actors, from the strategic to the operational level of management within the healthcare system in the country.","PeriodicalId":244112,"journal":{"name":"Diagnostics in Cardiology and Grown-Up Congenital Heart Disease (GUCH)","volume":"122 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127994336","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
To date, the prevalence of CHD worldwide is ∼9 per 1000 newborns, with substantial geographic variation. The latest knowledge in the world for the last 50 years about their origin, diagnosis and therapy has contributed to their care. Since adult patients with CHD now present increasing numbers at advanced ages, including the elderly, the term grown-up CHD no longer appears appropriate and was therefore replaced with adult CHD (ACHD) according to the ESC guidelines published in 2020 year. Due to medical, surgical, and technological evolutions over the past decades, >90% of individuals who are born with CHD now survive into adulthood. ACHD represent a challenge for clinicians. Despite optimal medical and surgical treatment, many will experience a progressive decline in cardiopulmonary function leading to advanced heart failure. Severe ventricular dysfunction and/or pulmonary hypertension may not be amenable to corrective repair. Their early recognition and follow-up in adolescence will contribute to better care for these patients. Importantly, the care for ACHD patients is a lifelong process and requires advance care planning strategies.
{"title":"ADULT CONGENITAL HEART DISEASE – NEW GUIDELINES AND CLINICAL CARE PERSPECTIVE","authors":"N. Naser, Z. Kusljugic","doi":"10.5644/pi2021.199.04","DOIUrl":"https://doi.org/10.5644/pi2021.199.04","url":null,"abstract":"To date, the prevalence of CHD worldwide is ∼9 per 1000 newborns, with substantial geographic variation. The latest knowledge in the world for the last 50 years about their origin, diagnosis and therapy has contributed to their care. Since adult patients with CHD now present increasing numbers at advanced ages, including the elderly, the term grown-up CHD no longer appears appropriate and was therefore replaced with adult CHD (ACHD) according to the ESC guidelines published in 2020 year. Due to medical, surgical, and technological evolutions over the past decades, >90% of individuals who are born with CHD now survive into adulthood. ACHD represent a challenge for clinicians. Despite optimal medical and surgical treatment, many will experience a progressive decline in cardiopulmonary function leading to advanced heart failure. Severe ventricular dysfunction and/or pulmonary hypertension may not be amenable to corrective repair. Their early recognition and follow-up in adolescence will contribute to better care for these patients. Importantly, the care for ACHD patients is a lifelong process and requires advance care planning strategies.","PeriodicalId":244112,"journal":{"name":"Diagnostics in Cardiology and Grown-Up Congenital Heart Disease (GUCH)","volume":"49 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116792408","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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