About this Research Topic
This Research Topic is the second volume of the “Comprehensive Risk Prediction in Cardiomyopathies: New genetic and imaging markers of risk”. Please see the first volume here.
Hypertrophic, dilated, and arrhythmogenic cardiomyopathies are a major cause of heart failure and sudden death. Current management guidelines recommend the use of risk stratification algorithms, to help with important decisions regarding medication initiation/uptitration and device use, including implantable cardioverter-defibrillators or cardiac resynchronization therapy. These algorithms and scores are mainly comprised of symptomatic status and a few imaging and/or ambulatory ECG markers.
A significant proportion of heart muscle disease is genetically caused and a pathogenic/likely pathogenic variant can be found in around 40-50% of index cases. Advances in genetics have allowed for an increasing diagnostic certainty and optimized family screening processes. An influence of genetics on prognosis and outcomes has also been reported in the last few years but it is yet to be integrated in decision-making recommendations.
Great advances in cardiac imaging have also been described in the context of heart muscle disease, including myocardial deformation techniques, scar imaging, perfusion imaging, and tissue characterization. These have provided new insights regarding previously unknown phenotypes, including early disease, and already help with differential diagnosis dilemmas in the daily clinical practice. However, differently from old markers such as ejection fraction and wall thickness, these new imaging parameters have not yet been fully integrated into risk prediction algorithms, despite a number of publications describing associations with events.
The aim of this Research Topic is to gather contributions from Researchers working in the fields of cardiomyopathy genetics and/or cardiomyopathy imaging, who have interest in establishing a role of new genetics and imaging markers for comprehensive risk prediction in cardiomyopathies.
This Special Issue is dedicated to the memory of Silvia Pica (Alessandria, October 23rd, 1981- Genoa, September 6th, 2022).
Silvia was a clinical and research cardiologist with expertise in multimodality imaging. She graduated in Medicine and Surgery at the University of Pavia in 2006. During her cardiology fellowship at San Matteo Hospital in Pavia, she developed a great interest in the clinical applications of echocardiography and cardiac magnetic resonance (CMR) to cardiomyopathies, valvular heart disease, heart failure, and pulmonary hypertension. Following her passion for CMR, she moved to London as a clinical and research Fellow at The Heart Hospital Imaging Center (2013). Back in Italy, in 2016, she obtained a fellowship at Cardiologico Monzino Hospital in Milan and achieved the EACVI Level 3 Cardiovascular Magnetic Resonance Accreditation. From 2015 to 2017, she worked as a full-time Cardiologist at Antonio e Biagio Hospital in Alessandria, her hometown. Since 2017 she worked as Research Consultant Cardiologist at the Multimodality Cardiac Imaging Unit of IRCCS Policlinico San Donato in Milan. She was a Nucleus member of the Working Group Board of CMR of the Italian Society of Cardiology, fervently supporting the precious role of CMR in the scientific and clinical scenario. She was a brilliant clinician and a passionate researcher updated on technical advances. She was the author of several scientific papers and book chapters, ranging from cardiomyopathies to anomalous origin of coronary arteries, from valvular diseases to ischemic heart disease.
Her smile, professionality, enthusiasm, and determination are alive in the memory of those who met her and in the heart of her beloved ones.
Antonia Camporeale, Lara Tondi, Giovanni Quarta
Hypertrophic, dilated, and arrhythmogenic cardiomyopathies are a major cause of heart failure and sudden death. Current management guidelines recommend the use of risk stratification algorithms, to help with important decisions regarding medication initiation/uptitration and device use, including implantable cardioverter-defibrillators or cardiac resynchronization therapy. These algorithms and scores are mainly comprised of symptomatic status and a few imaging and/or ambulatory ECG markers.
A significant proportion of heart muscle disease is genetically caused and a pathogenic/likely pathogenic variant can be found in around 40-50% of index cases. Advances in genetics have allowed for an increasing diagnostic certainty and optimized family screening processes. An influence of genetics on prognosis and outcomes has also been reported in the last few years but it is yet to be integrated in decision-making recommendations.
Great advances in cardiac imaging have also been described in the context of heart muscle disease, including myocardial deformation techniques, scar imaging, perfusion imaging, and tissue characterization. These have provided new insights regarding previously unknown phenotypes, including early disease, and already help with differential diagnosis dilemmas in the daily clinical practice. However, differently from old markers such as ejection fraction and wall thickness, these new imaging parameters have not yet been fully integrated into risk prediction algorithms, despite a number of publications describing associations with events.
The aim of this Research Topic is to gather contributions from Researchers working in the fields of cardiomyopathy genetics and/or cardiomyopathy imaging, who have interest in establishing a role of new genetics and imaging markers for comprehensive risk prediction in cardiomyopathies.
This Special Issue is dedicated to the memory of Silvia Pica (Alessandria, October 23rd, 1981- Genoa, September 6th, 2022).
Silvia was a clinical and research cardiologist with expertise in multimodality imaging. She graduated in Medicine and Surgery at the University of Pavia in 2006. During her cardiology fellowship at San Matteo Hospital in Pavia, she developed a great interest in the clinical applications of echocardiography and cardiac magnetic resonance (CMR) to cardiomyopathies, valvular heart disease, heart failure, and pulmonary hypertension. Following her passion for CMR, she moved to London as a clinical and research Fellow at The Heart Hospital Imaging Center (2013). Back in Italy, in 2016, she obtained a fellowship at Cardiologico Monzino Hospital in Milan and achieved the EACVI Level 3 Cardiovascular Magnetic Resonance Accreditation. From 2015 to 2017, she worked as a full-time Cardiologist at Antonio e Biagio Hospital in Alessandria, her hometown. Since 2017 she worked as Research Consultant Cardiologist at the Multimodality Cardiac Imaging Unit of IRCCS Policlinico San Donato in Milan. She was a Nucleus member of the Working Group Board of CMR of the Italian Society of Cardiology, fervently supporting the precious role of CMR in the scientific and clinical scenario. She was a brilliant clinician and a passionate researcher updated on technical advances. She was the author of several scientific papers and book chapters, ranging from cardiomyopathies to anomalous origin of coronary arteries, from valvular diseases to ischemic heart disease.
Her smile, professionality, enthusiasm, and determination are alive in the memory of those who met her and in the heart of her beloved ones.
Antonia Camporeale, Lara Tondi, Giovanni Quarta
Keywords: #CollectionSeries, genetics, prognosis, risk, sudden death, cardiac magnetic resonance, echocardiography, cardiac imaging, cardiomyopathy
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