Article
Multidisciplinary Sciences
Giuliana G. Repetti, Yuri Kim, Alexandre C. Pereira, Jodie Ingles, Mark W. Russell, Neal K. Lakdawala, Carolyn Y. Ho, Sharlene Day, Christopher Semsarian, Barbara McDonough, Steven R. DePalma, Daniel Quiat, Eric M. Green, Christine E. Seidman, J. G. Seidman
Summary: The clinical expression of hypertrophic cardiomyopathy (HCM) is influenced by background genetic variation and environmental factors. A study of 11 pairs of monozygotic HCM twins showed discordant cardiac morphology even among twins with the same pathogenic variant, indicating a significant role for epigenetics and environment in HCM disease progression. Whole genome sequencing analysis did not reveal notable somatic genetic variants to explain the clinical differences in the twins.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Cardiac & Cardiovascular Systems
Nicholas A. Marston, Larry Han, Iacopo Olivotto, Sharlene M. Day, Euan A. Ashley, Michelle Michels, Alexandre C. Pereira, Jodie Ingles, Christopher Semsarian, Daniel Jacoby, Steven D. Colan, Joseph W. Rossano, Samuel G. Wittekind, James S. Ware, Sara Saberi, Adam S. Helms, Carolyn Y. Ho
Summary: Patients with childhood-onset hypertrophic cardiomyopathy are more likely to have sarcomeric disease, have a higher risk of life-threatening ventricular arrhythmias, and have a greater need for advanced heart failure therapies.
EUROPEAN HEART JOURNAL
(2021)
Article
Cardiac & Cardiovascular Systems
Yishay Wasserstrum, Jose M. Larranaga-Moreira, Cristina Martinez-Veira, Edward Itelman, Dor Lotan, Avi Sabbag, Rafael Kuperstein, Yael Peled, Dov Freimark, Roberto Barriales-Villa, Michael Arad
Summary: Hypertrophic cardiomyopathy with reduced ejection fraction (HCMr) is associated with heart failure and poor outcome. Factors associated with the development of HCMr include younger age of diagnosis, poor functional class, and ventricular arrhythmia. Predictors of future HCMr development include atrial fibrillation, pacemaker implantation, and decreased left ventricular ejection fraction. Genetic factors play a significant role in the development of HCMr.
Review
Medicine, General & Internal
Claire M. Lawley, Juan Pablo Kaski
Summary: Hypertrophic cardiomyopathy (HCM) is a significant cause of illness and death in children. Most cases are caused by gene variants in the cardiac sarcomere components, inherited as an autosomal dominant trait. Recent studies have shown that phenotypic expression of HCM can occur in young children, highlighting the need for clinical screening and genetic testing in pediatric relatives. The multidisciplinary care of HCM-affected children and families relies on genomics.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Cardiac & Cardiovascular Systems
Luis R. Lopes, Soledad Garcia-Hernandez, Massimiliano Lorenzini, Marta Futema, Olga Chumakova, Dmitry Zateyshchikov, Maria Isidoro-Garcia, Eduardo Villacorta, Luis Escobar-Lopez, Pablo Garcia-Pavia, Raquel Bilbao, David Dobarro, Maria Sandin-Fuentes, Claudio Catalli, Blanca Gener Querol, Ainhoa Mezcua, Jose Garcia Pinilla, Torsten Bloch Rasmussen, Ana Ferreira-Aguar, Pablo Revilla-Marti, Maria Teresa Basurte Elorz, Alicia Bautista Paves, Juan Ramon Gimeno, Ana Virginia Figueroa, Raul Franco-Gutierrez, Maria Eugenia Fuentes-Canamero, Marina Martinez Moreno, Martin Ortiz-Genga, Jesus Piqueras-Flores, Karina Analia Ramos, Ainars Rudzitis, Luis Ruiz-Guerrero, Ricardo Stein, Mayte Triguero-Bocharan, Luis de la Higuera, Juan Pablo Ochoa, Dad Abu-Bonsrah, Cecilia Y. T. Kwok, Jacob B. Smith, Enzo R. Porrello, Mohammed M. Akhtar, Joanna Jager, Michael Ashworth, Petros Syrris, David A. Elliott, Lorenzo Monserrat, Perry M. Elliott
Summary: The study identified a low but pathogenic frequency of heterozygous ALPK3tv in patients with HCM, which was confirmed through family co segregation studies. ALPK3tv carriers exhibited a characteristic HCM phenotype, showing different clinical and imaging features compared to patients with sarcomere gene variants.
EUROPEAN HEART JOURNAL
(2021)
Article
Cardiac & Cardiovascular Systems
Luis R. Lopes, Soledad Garcia-Hernandez, Massimiliano Lorenzini, Marta Futema, Olga Chumakova, Dmitry Zateyshchikov, Maria Isidoro-Garcia, Eduardo Villacorta, Luis Escobar-Lopez, Pablo Garcia-Pavia, Raquel Bilbao, David Dobarro, Maria Sandin-Fuentes, Claudio Catalli, Blanca Gener Querol, Ainhoa Mezcua, Jose Garcia Pinilla, Torsten Bloch Rasmussen, Ana Ferreira-Aguar, Pablo Revilla-Marti, Maria Teresa Basurte Elorz, Alicia Bautista Paves, Juan Ramon Gimeno, Ana Virginia Figueroa, Raul Franco-Gutierrez, Maria Eugenia Fuentes-Canamero, Marina Martinez Moreno, Martin Ortiz-Genga, Jesus Piqueras-Flores, Karina Analia Ramos, Ainars Rudzitis, Luis Ruiz-Guerrero, Ricardo Stein, Mayte Triguero-Bocharan, Luis de la Higuera, Juan Pablo Ochoa, Dad Abu-Bonsrah, Cecilia Y. T. Kwok, Jacob B. Smith, Enzo R. Porrello, Mohammed M. Akhtar, Joanna Jager, Michael Ashworth, Petros Syrris, David A. Elliott, Lorenzo Monserrat, Perry M. Elliott
Summary: The study aimed to determine the frequency of heterozygous truncating ALPK3 variants in patients with hypertrophic cardiomyopathy (HCM) and confirm their pathogenicity through burden testing. The results showed that ALPK3tv carriers had a higher prevalence of apical/concentric patterns of hypertrophy and a short PR interval, indicating a characteristic HCM phenotype. Patients with ALPK3tv also had higher rates of heart failure or cardiac transplantation, with imaging and histopathology revealing extensive myocardial fibrosis and myocyte vacuolation.
EUROPEAN HEART JOURNAL
(2021)
Article
Genetics & Heredity
Adam Waring, Andrew Harper, Silvia Salatino, Christopher Kramer, Stefan Neubauer, Kate Thomson, Hugh Watkins, Martin Farrall
Summary: This study introduces methods for gene association and variant interpretation that detect clustering of rare missense variants in Mendelian disease genes, which can enhance disease-gene discovery. The statistical methods presented in this study are more powerful and computationally faster than alternative methods, and can effectively integrate ACMG criteria to provide strong evidence of pathogenicity for variants of uncertain significance.
JOURNAL OF MEDICAL GENETICS
(2021)
Review
Medicine, General & Internal
Milla Arabadjian, Barnaby Nicolas, Sophie Montgomery, Mitchell Pleasure, Maxine Collins, Maria Reuter, Daniele Massera, Daichi Shimbo, Mark Sherrid
Summary: Hypertension affects a significant percentage of adults with hypertrophic cardiomyopathy (HCM), leading to delayed diagnosis. The clinical course and outcomes in adults with co-occurring HCM and hypertension are not well understood, and existing studies have provided conflicting results. This paper describes the protocol for a scoping review that aims to systematically synthesize existing knowledge, identify knowledge gaps, and suggest future research directions to optimize outcomes in this population.
Article
Cardiac & Cardiovascular Systems
Ramin Garmany, J. Martijn Bos, Steve R. R. Ommen, Michael J. J. Ackerman, Jeffrey B. B. Geske
Summary: This study aims to describe the clinical course of hypertrophic cardiomyopathy (HCM) patients following their evaluation at a tertiary referral center. The results show that some patients' conditions worsened and required hospitalization and related procedures after leaving specialty care. Therefore, high-risk HCM patients should remain in contact with specialty care.
Review
Cardiac & Cardiovascular Systems
Seitaro Nomura, Minoru Ono
Summary: Cardiomyopathy develops through a combination of genetic and environmental factors. Genetic testing can identify causative genes in about half of the cases and predict clinical prognosis. Genome-wide genetic research is crucial for accurate disease risk assessment, as cardiomyopathy is caused by both single rare variants and combinations of multiple common variants. Single-cell analysis research is advancing rapidly, and the combination of genomic analysis and single-cell molecular profiling is expected to contribute to more detailed stratification of cardiomyopathy.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2023)
Review
Cardiac & Cardiovascular Systems
William E. Moody, Perry M. Elliott
Summary: The recognition and improved diagnostic techniques for hypertrophic cardiomyopathy (HCM) have led to earlier and more effective management, resulting in improved life expectancy and quality of life for patients. Advances in molecular genetics and novel therapies offer exciting prospects for the future treatment of HCM.
Article
Cardiac & Cardiovascular Systems
Pietro Francia, Matteo Ziacchi, Carmen Adduci, Ernesto Ammendola, Paolo Pieragnoli, Paolo De Filippo, Antonio Rapacciuolo, Valeria Rella, Federico Migliore, Stefano Viani, Maria Beatrice Musumeci, Elena Biagini, Mariolina Lovecchio, Rossella Baldini, Giulio Falasconi, Camillo Autore, Mauro Biffi, Franco Cecchi
Summary: This study aimed to compare the differences in appropriate and inappropriate ICD interventions, complications, disease-related adverse events, and mortality between hypertrophic cardiomyopathy patients implanted with a subcutaneous ICD (S-ICD) and those implanted with a transvenous ICD (TV-ICD). The results showed that patients with S-ICD had a lower risk of appropriate and inappropriate ICD interventions and major lead-related complications compared to those with TV-ICD.
Article
Cardiac & Cardiovascular Systems
Mareomi Hamada, Yuji Shigematsu, Shigeru Nakata, Taishi Kuwahara, Shuntaro Ikeda, Kiyotaka Ohshima, Akiyoshi Ogimoto
Summary: This study evaluated changes in left ventricular remodelling in patients with HCM using thallium-201 myocardial scintigraphy. The apex was the most common lesion site, and patients with LVHF had higher ES and MCC values.
Review
Cardiac & Cardiovascular Systems
Minh B. Nguyen, Seema Mital, Luc Mertens, Aamir Jeewa, Mark K. Friedberg, Julien Aguet, Arnon Adler, Christopher Z. Lam, Andreea Dragulescu, Harry Rakowski, Olivier Villemain
Summary: This review examines the association between genetic variations and outcomes in pediatric hypertrophic cardiomyopathy (HCM), discussing current approaches to phenotyping cardiovascular characteristics and exploring potential avenues for improving risk assessment of sudden cardiac death in children with HCM.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2022)
Article
Cardiac & Cardiovascular Systems
Neal K. Lakdawala, Iacopo Olivotto, Sharlene M. Day, Larry Han, Euan A. Ashley, Michelle Michels, Jodie Ingles, Christopher Semsarian, Daniel Jacoby, John L. Jefferies, Steven D. Colan, Alexandre C. Pereira, Joseph W. Rossano, Sam Wittekind, James S. Ware, Sara Saberi, Adam S. Helms, Allison L. Cirino, Leslie A. Leinwand, Christine E. Seidman, Carolyn Y. Ho
Summary: In hypertrophic cardiomyopathy, women are diagnosed at an older age and more likely to have pathogenic genetic variants, partly influenced by genetic substrate. Women have a higher risk of developing severe heart failure symptoms and mortality.
CIRCULATION-GENOMIC AND PRECISION MEDICINE
(2021)
Editorial Material
Cardiac & Cardiovascular Systems
Martina Setti, Stefano Nistri, Andrea Rossi, Francesca Mantovani, Flavio L. Ribichini, Giovanni Benfari
Summary: Using the right parasternal view during dobutamine stress echocardiography can provide the most accurate assessment of aortic valve stenosis severity in patients with reduced left ventricular ejection fraction.
ECHOCARDIOGRAPHY-A JOURNAL OF CARDIOVASCULAR ULTRASOUND AND ALLIED TECHNIQUES
(2022)
Editorial Material
Cardiac & Cardiovascular Systems
Filippo Cademartiri, Alberto Clemente, Stefano Nistri, Erica Maffei
EUROPEAN HEART JOURNAL-CARDIOVASCULAR IMAGING
(2022)
Article
Cardiac & Cardiovascular Systems
Juan R. Gimeno, Iacopo Olivotto, Ana Isabel Rodriguez, Carolyn Y. Ho, Adrian Fernandez, Alejandro Quiroga, Mari Angeles Espinosa, Cristina Gomez-Gonzalez, Maria Robledo, Lucas Tojal-Sierra, Sharlene M. Day, Anjali Owens, Roberto Barriales-Villa, Jose Maria Larranaga, Jose Rodriguez-Palomares, Maribel Gonzalez-del-Hoyo, Jesus Piqueras-Flores, Nosheen Reza, Olga Chumakova, Euan A. Ashley, Victoria Parikh, Matthew Wheeler, Daniel Jacoby, Alexandre C. Pereira, Sara Saberi, Adam S. Helms, Eduardo Villacorta, Maria Gallego-Delgado, Daniel Castro, Fernando Dominguez, Tomas Ripoll-Vera, Esther Zorio-Grima, Jose Carlos Sanchez-Martinez, Ana Garcia-Alvarez, Elena Arbelo, Maria Victoria Mogollon, Maria Eugenia Fuentes-Canamero, Elias Grande, Carlos Pena, Lorenzo Monserrat, Neal K. Lakdawala
Summary: This study describes the natural history of SARS-CoV-2 infection in patients with hypertrophic cardiomyopathy (HCM) and identifies predictors of adverse events. The study findings suggest that age and cardiac features related to HCM are associated with an increased risk of mortality.
Review
Cardiac & Cardiovascular Systems
Iacopo Olivotto, James E. Udelson, Maurizio Pieroni, Claudio Rapezzi
Summary: Heart failure with preserved ejection fraction (HFpEF) is a major cause of cardiac morbidity and mortality, driven by aging populations and comorbidities. HFpEF is a complex condition involving cardiac remodeling, peripheral circulation, and various comorbidities. However, a subset of HFpEF is caused by specific genetic myocardial diseases, which can be targeted by innovative treatments. The prompt recognition of these genetic causes can significantly improve clinical practice and outcomes for HFpEF patients.
EUROPEAN HEART JOURNAL
(2023)
Article
Cardiac & Cardiovascular Systems
Domenico Filomena, Bert Vandenberk, Tom Dresselaers, Rik Willems, Johan Van Cleemput, Iacopo Olivotto, Tomas Robyns, Jan Bogaert
Summary: This study aimed to evaluate the presence and frequency of papillary muscle (PM) displacement in different phenotypes of hypertrophic cardiomyopathy (HCM). The study found that PM displacement was most common in the apical HCM group, followed by the mixed HCM and septal HCM groups. There appears to be a potential pathogenetic and mechanical link between apical PM displacement and apical HCM.
EUROPEAN HEART JOURNAL-CARDIOVASCULAR IMAGING
(2023)
Article
Cardiac & Cardiovascular Systems
Giacomo Tini, Maddalena Graziosi, Beatrice Musumeci, Mattia Targetti, Domitilla Russo, Vanda Parisi, Alessia Argiro, Raffaello Ditaranto, Ornella Leone, Camillo Autore, Iacopo Olivotto, Elena Biagini
Summary: Diagnosis of arrhythmogenic cardiomyopathy (ACM) is often delayed, especially in cases involving left ventricular (LV) involvement, and this delay is associated with increased mortality at follow-up. The most common initial misdiagnoses are dilated cardiomyopathy, myocarditis, and idiopathic ventricular arrhythmia.
EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY
(2023)
Article
Medicine, General & Internal
Niccolo Maurizi, Chiara Chiriatti, Carlo Fumagalli, Mattia Targetti, Silvia Passantino, Panagiotis Antiochos, Ioannis Skalidis, Chiara Chiti, Giulia Biagioni, Alessia Tomberli, Sara Giovani, Raffaele Coppini, Franco Cecchi, Iacopo Olivotto
Summary: Disopyramide has been found to be effective in reducing left ventricular outflow obstruction (LVOTO) and improving symptoms in patients with obstructive hypertrophic cardiomyopathy (oHCM). However, its real-world use and patient characteristics associated with a positive treatment response remain unclear. This study aimed to address these issues and found that disopyramide had a good treatment effect and a high level of safety in mildly symptomatic patients.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Medicine, General & Internal
Francesca Girolami, Alessia Gozzini, Eszter Dalma Palinkas, Adelaide Ballerini, Alessia Tomberli, Katia Baldini, Alberto Marchi, Mattia Zampieri, Silvia Passantino, Giulio Porcedda, Giovanni Battista Calabri, Elena Bennati, Gaia Spaziani, Lia Crotti, Franco Cecchi, Silvia Favilli, Iacopo Olivotto
Summary: Genetic counselling and testing are crucial in diagnosing and managing hypertrophic cardiomyopathy (HCM), enabling personalized treatment strategies and family cascade testing. The complexity of interpreting genetic data, especially with Next Generation Sequencing technologies, necessitates collaboration between cardiologists and geneticists to accurately evaluate the pathogenicity of identified genetic alterations. Effective communication between the team and families is essential for delivering the full potential of genetic testing in HCM patients.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Medicine, General & Internal
Gaia Spaziani, Francesca Bonanni, Francesca Girolami, Elena Bennati, Giovanni Battista Calabri, Chiara Di Filippo, Giulio Porcedda, Silvia Passantino, Stefano Nistri, Iacopo Olivotto, Silvia Favilli
Summary: This study compared the diagnostic performance of the newly introduced Q-score with the traditional Z-score in pediatric patients with bicuspid aortic valve (BAV). The results showed that ascending aorta dilation was more common in isolated BAV patients, but less common in BAV patients associated with aortic coarctation (CoA). Dilation was related to the presence and degree of aortic stenosis, but not to aortic regurgitation. The traditional nomograms may overestimate the prevalence of aortic dilation in children.
Article
Cardiac & Cardiovascular Systems
Matteo Beltrami, Elisa Fedele, Carlo Fumagalli, Francesco Mazzarotto, Francesca Girolami, Cecilia Ferrantini, Raffaele Coppini, Lorenzo Tofani, Bruno Bertaccini, Corrado Poggesi, Iacopo Olivotto
Summary: This study found that hypertrophic cardiomyopathy patients with MYBPC3 and MYH7 mutations showed differences in cardiac systolic function. MYBPC3 patients had a significant decline in systolic function during follow-up and a higher prevalence of severe systolic dysfunction. However, there were no significant differences between the two groups in other outcomes such as atrial fibrillation and heart failure.
CIRCULATION-GENOMIC AND PRECISION MEDICINE
(2023)
Article
Geriatrics & Gerontology
Carlo Fumagalli, Martina Smorti, Lucia Ponti, Francesca Pozza, Alessia Argiro, Giacomo Credi, Carlo Di Mario, Raffaele Marfella, Niccolo Marchionni, Iacopo Olivotto, Federico Perfetto, Andrea Ungar, Francesco Cappelli
Summary: The aim of this study was to investigate frailty and the quality of the caregiver relationship in older patients with transthyretin cardiac amyloidosis (ATTR-CA). The study found that 10% of patients were frail and 46% had depressive symptoms. Regression analyses showed that frailty and depression were associated with poorer perception of social support, and frailty and disease severity were associated with higher levels of conflict in the caregiver relationship. Overall, frailty was associated with worse perceived social support and caregiver relationship quality. Tertiary care heart failure clinics should actively support the patient-caregiver relationship to improve quality of life.
AGING CLINICAL AND EXPERIMENTAL RESEARCH
(2023)
Article
Cardiac & Cardiovascular Systems
Francesca Girolami, Silvia Passantino, Adelaide Ballerini, Alessia Gozzini, Giulio Porcedda, Iacopo Olivotto, Silvia Favilli
Summary: Genetic testing is a powerful tool for clarifying the diagnosis, guiding intervention strategies, and enabling cascade testing in patients with pediatric-onset RCM.
Article
Cardiac & Cardiovascular Systems
Gabrielle Norrish, Gali Kolt, Elena Cervi, Ella Field, Kathleen Dady, Lidia Ziolkowska, Iacopo Olivotto, Silvia Favilli, Silvia Passantino, Giuseppe Limongelli, Martina Caiazza, Marta Rubino, Anwar Baban, Fabrizio Drago, Karen Mcleod, Maria Ilina, Ruth McGowan, Graham Stuart, Vinay Bhole, Orhan Uzun, Amos Wong, Laz Lazarou, Elspeth Brown, Piers E. F. Daubeney, Amrit Lota, Grazia Delle Donne, Katie Linter, Sujeev Mathur, Tara Bharucha, Satish Adwani, Jon Searle, Anca Popoiu, Caroline B. Jones, Zdenka Reinhardt, Juan Pablo Kaski
Summary: This study focused on infantile hypertrophic cardiomyopathy patients from multiple European centers, revealing a complex and diverse cohort with regards to etiology, phenotype, and clinical course. While overall outcomes were poor, it was primarily related to the underlying etiology, stressing the importance of comprehensive etiological investigations.