Review
Cardiac & Cardiovascular Systems
Conner C. Earl, Jonathan H. Soslow, Larry W. Markham, Craig J. Goergen
Summary: Cardiomyopathy is the leading cause of death in individuals with Duchenne muscular dystrophy. There is a need for biomarkers to detect early onset and rapid progression of cardiomyopathy. Cardiac strain imaging is a promising technique, but more work is needed in relation to DMD. Emerging imaging techniques can help better characterize the progression of cardiomyopathy in DMD.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2022)
Article
Cardiac & Cardiovascular Systems
Abhinandan Batra, Alison M. Barnard, Donovan J. Lott, Rebecca J. Willcocks, Sean C. Forbes, Saptarshi Chakraborty, Michael J. Daniels, Jannik Arbogast, William Triplett, Erik K. Henricson, Jonathan G. Dayan, Carsten Schmalfuss, Lee Sweeney, Barry J. Byrne, Craig M. McDonald, Krista Vandenborne, Glenn A. Walter
Summary: This study aimed to determine the rate of progressive decline in left ventricular function in DMD patients and identify early biomarkers of cardiac dysfunction. The findings revealed that DMD patients had worse left ventricular strain and it progressively declined over time. The use of cardioprotective drugs showed a positive impact on cardiac measures.
BMC CARDIOVASCULAR DISORDERS
(2022)
Article
Cardiac & Cardiovascular Systems
Hamsika Chandrasekar, Beth D. Kaufman, Meaghan J. Beattie, Daniel B. Ennis, Ali B. Syed, Evan J. Zucker, Shiraz A. Maskatia
Summary: The study compared DMD patients undergoing echocardiography and aCMR with global quality assessment score, clinical utility score, and patient satisfaction score. Results showed that aCMR performed significantly better than echo in visualizing the right ventricle and assessing atrial size.
INTERNATIONAL JOURNAL OF CARDIOVASCULAR IMAGING
(2023)
Article
Cardiac & Cardiovascular Systems
Conner C. Earl, Victoria I. Pyle, Sydney Q. Clark, Karthik Annamalai, Paula A. Torres, Alejandro Quintero, Frederick W. Damen, Kan N. Hor, Larry W. Markham, Jonathan H. Soslow, Craig J. Goergen
Summary: This study used a novel 4D strain analysis method to characterize DMD cardiomyopathy. The results showed that DMD patients had significantly decreased myocardial strain, which correlated with cardiac function and extracellular volume.
JOURNAL OF CARDIOVASCULAR MAGNETIC RESONANCE
(2023)
Article
Genetics & Heredity
Roman Panovsky, Martin Pesl, Jan Machal, Tomas Holecek, Vera Feitova, Lenka Jurikova, Lucia Masarova, Eva Peslova, Lukas Opatril, Mary Luz Mojica-Pisciotti, Vladimir Kincl
Summary: The study utilized CMR strain analysis and MAPSE to detect early LV dysfunction in DMD patients. It was found that DMD patients exhibited decreased LV systolic function even with normal LVEF and the absence of LGE, highlighting the importance of FT and MAPSE measurement in assessing cardiac involvement in DMD patients.
ORPHANET JOURNAL OF RARE DISEASES
(2021)
Article
Medicine, Research & Experimental
Cedric Happi Mbakam, Joel Rousseau, Yaoyao Lu, Anne Bigot, Kamel Mamchaoui, Vincent Mouly, Jacques P. Tremblay
Summary: In this study, researchers used CRISPR-Cas9 prime editing technology to correct a mutation in the DMD gene, resulting in improved editing efficiency and restoration of dystrophin protein expression. Optimization of the reverse transcription template sequence led to a significant increase in the editing percentage of the target nucleotide.
MOLECULAR THERAPY-NUCLEIC ACIDS
(2022)
Article
Pediatrics
George Markousis-Mavrogenis, Antonios Belegrinos, Aikaterini Giannakopoulou, Evangelos Karanasios, Vasiliki Vartela, Elephtheria Patsilinakou, Paul Samantis, Roser-Marie Pons, Antigoni Papavasiliou, Sophie I. Mavrogeni
Summary: In this case series, CMR was used to diagnose post-COVID-19 myocarditis in asymptomatic DMD patients with mild COVID-19. CMR identified severe myocardial inflammation and concurrent impairment of left ventricular function. Appropriate treatment was initiated, and two patients received defibrillator implantation due to ventricular tachycardia. This case series highlights the diagnostic strength of CMR in post-COVID-19 myocarditis and raises awareness among physicians.
Article
Cardiac & Cardiovascular Systems
Ke Xu, Hua-yan Xu, Rong Xu, Lin-jun Xie, Zhi-gang Yang, Li Yu, Bin Zhou, Hang Fu, Hui Liu, Xiao-tang Cai, Ying-kun Guo
Summary: Progressive cardiomyopathy is the leading cause of mortality in Duchenne muscular dystrophy (DMD) patients. This study aimed to comprehensively characterize myocardial involvement using native T1 mapping in a large cohort of DMD patients. Results showed that LGE-positive DMD patients had significantly longer global native T1 values compared to healthy controls, particularly in the epicardial layer, suggesting its potential as a robust marker for early cardiac involvement in DMD patients.
JOURNAL OF CARDIOVASCULAR MAGNETIC RESONANCE
(2021)
Article
Clinical Neurology
Lisa C. Power, Silmara Gusso, Tim S. Hornung, Craig Jefferies, Jose G. B. Derraik, Paul L. Hofman, Gina L. O'Grady
Summary: Boys with Duchenne muscular dystrophy showed abnormalities in left ventricular systolic function, exacerbated by exercise stress. Exercise cardiac magnetic resonance imaging has the potential to uncover early signs of cardiomyopathy in a select population of children with Duchenne muscular dystrophy.
PEDIATRIC NEUROLOGY
(2021)
Article
Clinical Neurology
Fei Peng, Huayan Xu, Yu Song, Ke Xu, Shuhao Li, Xiaotang Cai, Yingkun Guo, Lianggeng Gong
Summary: This study aims to investigate the disease progression of Duchenne muscular dystrophy (DMD) in pelvic and thigh muscles over a one-year period. Multiple-parameter quantitative magnetic resonance imaging (qMRI) was used to measure various biomarkers, and the most responsive muscle was identified. The results indicate that qMRI biomarkers are sensitive to disease progression and can detect subclinical disease progression in functionally stable DMD patients.
JOURNAL OF NEUROLOGY
(2023)
Article
Acoustics
Jun Hu, Li Jiang, Siqi Hong, Li Cheng, Qiao Wang, Xuehua Peng, Jiaqiang Qin, Lin Zou
Summary: This study evaluates the suitability of quantitative muscle ultrasound (QMUS) or magnetic resonance imaging (MRI) for the assessment of Duchenne muscular dystrophy (DMD) in China. The results show that QMUS and MRI scores for muscle thickness and echo intensity are significantly correlated with clinical characteristics and T1-weighted MRI grading. Both QMUS and MRI can be used as biomarkers for tracking DMD to some extent, with specific needs and goals determining the preference for one over the other.
JOURNAL OF CLINICAL ULTRASOUND
(2023)
Article
Neurosciences
Abbe H. Crawford, Natasha L. Hornby, Alerie G. de la Fuente, Richard J. Piercy
Summary: Duchenne muscular dystrophy is a genetic disease that affects muscle strength, cognition, and neurobehavioral functions due to a deficiency in brain dystrophin. In a study using a canine model, it was found that the dogs with dystrophin deficiency had reduced gray matter volume and altered white matter ultrastructure in the brain. These structural changes may contribute to the neurocognitive phenotype observed in Duchenne muscular dystrophy.
Article
Clinical Neurology
Giulio Gadaleta, Guido Urbano, Chiara Brusa, Rossella D'Alessandro, Enrica Rolle, Ilaria Cavallina, Alessio Mattei, Fulvia Ribolla, Claudia Raineri, Stefano Pidello, Liliana Vercelli, Federica S. Ricci, Tiziana E. Mongini
Summary: The clinical characteristics of adults with DMD include mechanical ventilation, swallowing and nutritional issues, and bone density alterations. Other issues include respiratory infections, gastrointestinal symptoms, metabolic acidosis, psychiatric symptoms, and chronic pain. Patients have a negative perception of their physical health but a more positive assessment of their mental health.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Pediatrics
Simon Lee, Marc Lee, Kan N. Hor
Summary: Duchene muscular dystrophy (DMD) is a rare and devastating disease that results in progressive loss of ambulation, respiratory failure, DMD-associated cardiomyopathy (DMD-CM), and premature death. Recent focus on cardiac phenotype rather than just skeletal myopathy has improved outcomes and prognosis.
PEDIATRIC PULMONOLOGY
(2021)
Article
Pharmacology & Pharmacy
Zeren Sun, Dengqiu Xu, Lei Zhao, Xihua Li, Sijia Li, Xiaofei Huang, Chunjie Li, Lixin Sun, Bing Liu, Zhenzhou Jiang, Luyong Zhang
Summary: The study found that fenofibrate can promote the differentiation of myofibers by down-regulating the expression of myostatin protein in myoblasts, significantly improving muscle function and reducing muscle damage in mdx mice, along with anti-inflammatory effects.
BRITISH JOURNAL OF PHARMACOLOGY
(2022)
Article
Cardiac & Cardiovascular Systems
Sujatha Buddhe, Mark Ferguson, Bhawna Arya, Brian D. Soriano
PEDIATRIC CARDIOLOGY
(2016)
Article
Cardiac & Cardiovascular Systems
Timothy C. Slesnick, Jenna Schreier, Brian D. Soriano, Shelby Kutty, Arni C. Nutting, Dennis W. Kim, Andrew J. Powell, Anne Marie Valente
PEDIATRIC CARDIOLOGY
(2016)
Editorial Material
Cardiac & Cardiovascular Systems
Brian D. Soriano, Craig E. Fleishman, Andrea M. Van Hoever, Bonnie Wright, Beth Printz, Theresa A. Tacy, Vivekanand Allada, Wyman W. Lai, Sujatha Buddhe, Shubhika Srivastava
JOURNAL OF THE AMERICAN SOCIETY OF ECHOCARDIOGRAPHY
(2018)
Article
Pediatrics
Bethany L. Wisotzkey, Brian D. Soriano, Erin L. Albers, Mark Ferguson, Sujatha Buddhe
PEDIATRIC RADIOLOGY
(2018)
Article
Cardiac & Cardiovascular Systems
Daisuke Kobayashi, Morris M. Salem, Thomas J. Forbes, Brent M. Gordon, Brian D. Soriano, Vivian Dimas, Bryan H. Goldstein, Carl Owada, Alexander Javois, John Bass, Thomas K. Jones, Darren P. Berman, Matthew J. Gillespie, John W. Moore, Daniel S. Levi
CATHETERIZATION AND CARDIOVASCULAR INTERVENTIONS
(2019)
Article
Pediatrics
Michael A. Portman, Nagib S. Dahdah, April Slee, Aaron K. Olson, Nadine F. Choueiter, Brian D. Soriano, Sujatha Buddhe, Carolyn A. Altman, Kamill Del Toro, Soultana Kourtidou, Bethany Wisotzkey, Margaret Bruce, Jennifer Cox, Richard Williams, Jamie Reeder, Edward Kirkpatrick, Marsha Malloy, Mary Krolikowslki, Julie Briere, Fabiola Breault, Sujatha Rajan, Deborah Mensch, Nancy Stellato, Lorry Rubin, Sunil Sood, Jill Leibowitz, Rita Shah, Vijaya Soma, Rubin Cooper, Christine DeMers, Sara K. Sexson-Tejtel, Debra Griffin, Teniola Shittu, Iona Munjal, Kelly Ann Balem, Lisa Imundo, Josephine Isgro, Anne Ferris, April Slee
Article
Cardiac & Cardiovascular Systems
James A. Nelson, Brian D. Soriano, Sujatha Buddhe
CARDIOLOGY IN THE YOUNG
(2019)
Article
Cardiac & Cardiovascular Systems
Peter C. Frommelt, L. LuAnn Minich, Felicia L. Trachtenberg, Karen Altmann, Joseph Camarda, Meryl S. Cohen, Steven D. Colan, Andreea Dragulescu, Michele A. Frommelt, Tiffanie R. Johnson, John P. Kovalchin, Lina Lin, Joseph Mahgerefteh, Arni Nutting, David A. Parra, Gail D. Pearson, Ricardo Pignatelli, Ritu Sachdeva, Brian D. Soriano, Christopher Spurney, Shubhika Srivastava, Christopher J. Statile, Jessica Stelter, Mario Stylianou, Poonam P. Thankavel, E. Seda Tierney, Mary E. van der Velde, Leo Lopez, Kristin Burns, Jonathan Kaltman, Jonathan Kaltman, Gail Pearson, Victoria Pemberton, Mario Stylianou, Lynn Mahony, Shan Chen, Steven Colan, Dianne Gallagher, Eric Gerstenberger, Russell Gongwer, Suzanne Granger, Julia Keosaian, Susanne Langley, Lina Lin, Tammi Mansolf, Stephanie Moine, Andrew Morrison, Katelyn Nelson, Brenda Ni, Janet Ortiz, David Pober, Michelle Pucillo, Paul Stark, Christiana Toomey, Felicia Trachtenberg, Barbara Winrich, Steven Schwartz, Fraser Golding, Brian McCrindle, Andreea Dragulescu, Elizabeth Radojewski, Seema Mital, Patricia Walter, Cameron Slorach, Jane Newburger, John Triedman, Ashwin Prakash, Jami Levine, Stephen Paridon, Meryl Cohen, David Goldberg, Tonia Morrison, Andrew M. Atz, Eric Graham, Carolyn Taylor, Shahryar Chowdhury, Patricia Infinger, L. Luann Minich, Richard V. Williams, Dongngan T. Truong, Linda M. Lambert, Marian E. Shearrow, Belva Stanton, Caren Goldberg, Richard Ohye, Suzanne Welch, James F. Cnota, Michelle Hamstra, Kathleen Ash, Joshua Sticka, Mark Payne, Timothy Cordes, Liz Swan, William Mahle, Heather S. Friedman, Laurie J. Clark, Ritu Sachdeva, Daniel Penny, Ricardo Pignatelli, David Garuba, Carolynn Altman, Marc Richmond, Wyman Lai, Rosalind Korsin, Brett Anderson, Poonam Punjwani Thankavel, Hollie Carron, Salil Ginde, Michelle Otto, Michele Frommelt, Larry Markham, David A. Parra, Jonathan H. Soslow, Luciana Young, Joseph Camarda, Elise Duffy, Kathleen Van't Hof, Mark Lewin, Joel Lester, Aarti H. Bhat, Amy Payne, Shubhika Srivastava, Irene Lytrivi, Helen Ko, Joseph Mahgerefteh, Leo Lopez, Kelly Ann Balem, Craig Sable, Christopher Spurney, Peter Frommelt, Jessica Stelter, Hannah Hartsig, Michael Artman, Anu Rao, Ben Eidem, G. Paul Matherne, Timothy Feltes, Julie Johnson, Jeffrey P. Krischer, Patrick McBride, John Kugler, Frank Evans, David Driscoll, Mark Galantowicz, Sally Hunsberger, Thomas Knight, Holly Taylor
JOURNAL OF THE AMERICAN SOCIETY OF ECHOCARDIOGRAPHY
(2019)
Article
Cardiac & Cardiovascular Systems
Vidhya Annavajjhala, Anne Marie Valente, Leo Lopez, Ritu Sachdeva, Julie S. Glickstein, Shobha S. Natarajan, Sujatha Buddhe, Karen Altmann, Brian D. Soriano, John L. Colquitt, Carolyn A. Altman, Nao Sasaki, Charlotte Sakarovitch, Theresa A. Tacy, Tal Geva, Elif Seda Selamet Tierney
INTERNATIONAL JOURNAL OF CARDIOLOGY
(2020)
Article
Cardiac & Cardiovascular Systems
Dongngan Truong, Leo Lopez, Peter C. Frommelt, Jessica Stelter, Brenda Ni, Meryl S. Cohen, Ashwin Prakash, Steven D. Colan, Christopher Spurney, Jonathan Soslow, Gail D. Pearson, Joseph Mahgerefteh, Ritu Sachdeva, Ricardo Pignatelli, Felicia Trachtenberg, Mario Stylianou, Karen Altmann, Kathleen A. Rathge, Joseph Camarda, Shahryar Chowdhury, Andreea Dragulescu, Michele Frommelt, Olukayode Garuba, Brian Soriano, Shubhika Srivastava, Poonam Thankavel, Mary E. van der Velde, L. LuAnn Minich
CARDIOLOGY IN THE YOUNG
(2020)
Article
Cardiac & Cardiovascular Systems
Emily L. Yang, Shelby Kutty, Brian D. Soriano, Sathish Mallenahalli, Mark R. Ferguson, Mark B. Lewin, Sujatha Buddhe
Summary: The ventricular-vascular coupling ratio assessed by cardiovascular MRI provides a better estimate of ventriculo-ventricular interaction in children with congenital heart disease. MRI-derived ratio correlates better with patient outcomes compared to echocardiography, and the associations are stronger in both right and left heart conditions.
CARDIOLOGY IN THE YOUNG
(2021)
Article
Cardiac & Cardiovascular Systems
Bethany L. Wisotzkey, Bereketeab Haileselassie, Neal Jorgensen, Erin L. Albers, Mariksa S. Kemna, Brian D. Soriano, Aarti H. Bhat, Richard A. Kronmal, Robert J. Bouccek, Yuk M. Law
Summary: In pediatric heart transplant recipients without rejection, B-type natriuretic peptide and echocardiographic indices of diastolic function were independently related to post-transplant mean right atrial and pulmonary capillary wedge pressures.
CARDIOLOGY IN THE YOUNG
(2022)
Article
Pediatrics
Erik L. Frandsen, Soultana Kourtidou, Joel S. Tieder, Erin Alberda, Brian D. Soriano
PEDIATRIC QUALITY & SAFETY
(2020)
Article
Cardiac & Cardiovascular Systems
Bethany L. Wisotzkey, Brian D. Soriano, Sujatha Buddhe
CARDIOLOGY IN THE YOUNG
(2017)
Article
Cardiac & Cardiovascular Systems
Leo Lopez, Steven Colan, Mario Stylianou, Suzanne Granger, Felicia Trachtenberg, Peter Frommelt, Gail Pearson, Joseph Camarda, James Cnota, Meryl Cohen, Andreea Dragulescu, Michele Frommelt, Olukayode Garuba, Tiffanie Johnson, Wyman Lai, Joseph Mahgerefteh, Ricardo Pignatelli, Ashwin Prakash, Ritu Sachdeva, Brian Soriano, Jonathan Soslow, Christopher Spurney, Shubhika Srivastava, Carolyn Taylor, Poonam Thankavel, Mary van der Velde, LuAnn Minich
CIRCULATION-CARDIOVASCULAR IMAGING
(2017)