Cooperative international neuromuscular research group duchenne natural history study demonstrates insufficient diagnosis and treatment of cardiomyopathy in duchenne muscular dystrophy

Christopher Spurney; Reiko Shimizu; Lauren P. Morgenroth; Hanna Kolski; Heather Gordish-Dressman; Paula R. Clemens; Michelle Cregan; Erica Goude; Merete Glick; Linda Johnson; Jay Han; Nanette Joyce; David Kilmer; Alina Nicorici; C. Chidambaranathan; Suresh Kumar; Laila Eliasoph; Elizabeth Hosaki; Angela Gonzales; Vivienne Harris; Angela Chiu; Jennifer Thannhauser; Lori Walker; Caitlin Wright; Mehrnaz Yousefi; Anne Christine Alhander; Lisa Wahlgren; Anne Berit Ekstrom; Anna Karin Kroksmark; Ulrika Sterky; Marissa Birkmeier; Tina Duong; Sarah Kaminski; Kate Carroll; Katy DeValle; Rachel Kennedy; Andrew Kornberg; Victoria Rodriguez; Dani Villano; Adina Bar Leve; Elana Wisband; Debbie Yaffe; Luz Andreone; Jose Corderi; Lilia Mesa; Lorena Levi; Krista Coleman-Wood; Ann Hoffman; Wendy Korn-Petersen; Nancy Kuntz; Duygu Selcen; Hoda Abdel-Hamid; Christopher Bise; Ann Craig; Casey Nguyen; Jason Weimer; M. Al-Lozi; Julaine Florence; Paul Golumbak; Glenn Lopate; Justin Malane; Betsy Malkus; Renee Renna; Jeanine Schierbacker; Catherine Seiner; Charlie Wulf; Susan Blair; Barbara Grillo; Karen Jones; Eugenio Monasterio; Meegan Barrett-Adair; Judy Clift; Cassandra Feliciano; Rachel Young; Kristy Rose; Richard Webster; Stephanie Wicks; Lucia Chen; Cameron Kennedy; Brenda Deliz; Sheila Espada; Pura Fuste; Carlos Luciano; Maria Beneggi; Luca Capone; Alessandro Molteni; Valentina Morettini; Anjali Gupta; Robert McNeil; Amy Erickson; Marcia Margolis; Cameron Naughton; Gareth Parry; David Walk; Adrienne Arrieta; Naomi Bartley; Paola Canelos; Robert Casper; Avital Cnaan; Tina Duong; Fengming Hu; Zoë Sund; Angela Zimmerman

doi:10.1002/mus.24163

Cooperative international neuromuscular research group duchenne natural history study demonstrates insufficient diagnosis and treatment of cardiomyopathy in duchenne muscular dystrophy

Christopher Spurney, Reiko Shimizu, Lauren P. Morgenroth, Hanna Kolski, Heather Gordish-Dressman, Paula R. Clemens, Michelle Cregan, Erica Goude, Merete Glick, Linda Johnson, Jay Han, Nanette Joyce, David Kilmer, Alina Nicorici, C. Chidambaranathan, Suresh Kumar, Laila Eliasoph, Elizabeth Hosaki, Angela Gonzales, Vivienne HarrisAngela Chiu, Jennifer Thannhauser, Lori Walker, Caitlin Wright, Mehrnaz Yousefi, Anne Christine Alhander, Lisa Wahlgren, Anne Berit Ekstrom, Anna Karin Kroksmark, Ulrika Sterky, Marissa Birkmeier, Tina Duong, Sarah Kaminski, Kate Carroll, Katy DeValle, Rachel Kennedy, Andrew Kornberg, Victoria Rodriguez, Dani Villano, Adina Bar Leve, Elana Wisband, Debbie Yaffe, Luz Andreone, Jose Corderi, Lilia Mesa, Lorena Levi, Krista Coleman-Wood, Ann Hoffman, Wendy Korn-Petersen, Nancy Kuntz, Duygu Selcen, Hoda Abdel-Hamid, Christopher Bise, Ann Craig, Casey Nguyen, Jason Weimer, M. Al-Lozi, Julaine Florence, Paul Golumbak, Glenn Lopate, Justin Malane, Betsy Malkus, Renee Renna, Jeanine Schierbacker, Catherine Seiner, Charlie Wulf, Susan Blair, Barbara Grillo, Karen Jones, Eugenio Monasterio, Meegan Barrett-Adair, Judy Clift, Cassandra Feliciano, Rachel Young, Kristy Rose, Richard Webster, Stephanie Wicks, Lucia Chen, Cameron Kennedy, Brenda Deliz, Sheila Espada, Pura Fuste, Carlos Luciano, Maria Beneggi, Luca Capone, Alessandro Molteni, Valentina Morettini, Anjali Gupta, Robert McNeil, Amy Erickson, Marcia Margolis, Cameron Naughton, Gareth Parry, David Walk, Adrienne Arrieta, Naomi Bartley, Paola Canelos, Robert Casper, Avital Cnaan, Tina Duong, Fengming Hu, Zoë Sund, Angela Zimmerman

Neurology

Research output: Contribution to journal › Article › peer-review

52 Scopus citations

Abstract

Introduction: Cardiomyopathy is a common cause of morbidity and death in patients with Duchenne muscular dystrophy (DMD). Methods: This investigation was a cross-sectional cross-sectional analysis of clinical data from the multi-institutional Cooperative International Neuromuscular Research Group (CINRG) DMD Natural History Study of 340 DMD patients aged 2-28 years. Cardiomyopathy was defined as shortening fraction (SF) <28% or ejection fraction (EF) <55%. Results: Two hundred thirty-one participants reported a prior clinical echocardiogram study, and 174 had data for SF or EF. The prevalence of cardiomyopathy was 27% (47 of 174), and it was associated significantly with age and clinical stage. The association of cardiomyopathy with age and clinical stage was not changed by glucocorticoid use as a covariate (P>0.68). In patients with cardiomyopathy, 57% (27 of 47) reported not taking any cardiac medications. Cardiac medications were used in 12% (15 of 127) of patients without cardiomyopathy. Conclusions: We found that echocardiograms were underutilized, and cardiomyopathy was undertreated in this DMD natural history cohort.

Original language	English (US)
Pages (from-to)	250-256
Number of pages	7
Journal	Muscle and Nerve
Volume	50
Issue number	2
DOIs	https://doi.org/10.1002/mus.24163
State	Published - Aug 1 2014

Keywords

Cardiomyopathy
Duchenne muscular dystrophy
Echocardiogram
Glucocorticoid
Natural history

ASJC Scopus subject areas

Physiology
Clinical Neurology
Cellular and Molecular Neuroscience
Physiology (medical)

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10.1002/mus.24163

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Spurney, C., Shimizu, R., Morgenroth, L. P., Kolski, H., Gordish-Dressman, H., Clemens, P. R., Cregan, M., Goude, E., Glick, M., Johnson, L., Han, J., Joyce, N., Kilmer, D., Nicorici, A., Chidambaranathan, C., Kumar, S., Eliasoph, L., Hosaki, E., Gonzales, A., ... Zimmerman, A. (2014). Cooperative international neuromuscular research group duchenne natural history study demonstrates insufficient diagnosis and treatment of cardiomyopathy in duchenne muscular dystrophy. Muscle and Nerve, 50(2), 250-256. https://doi.org/10.1002/mus.24163

Cooperative international neuromuscular research group duchenne natural history study demonstrates insufficient diagnosis and treatment of cardiomyopathy in duchenne muscular dystrophy. / Spurney, Christopher; Shimizu, Reiko; Morgenroth, Lauren P. et al.
In: Muscle and Nerve, Vol. 50, No. 2, 01.08.2014, p. 250-256.

Research output: Contribution to journal › Article › peer-review

Spurney, C, Shimizu, R, Morgenroth, LP, Kolski, H, Gordish-Dressman, H, Clemens, PR, Cregan, M, Goude, E, Glick, M, Johnson, L, Han, J, Joyce, N, Kilmer, D, Nicorici, A, Chidambaranathan, C, Kumar, S, Eliasoph, L, Hosaki, E, Gonzales, A, Harris, V, Chiu, A, Thannhauser, J, Walker, L, Wright, C, Yousefi, M, Alhander, AC, Wahlgren, L, Ekstrom, AB, Kroksmark, AK, Sterky, U, Birkmeier, M, Duong, T, Kaminski, S, Carroll, K, DeValle, K, Kennedy, R, Kornberg, A, Rodriguez, V, Villano, D, Leve, AB, Wisband, E, Yaffe, D, Andreone, L, Corderi, J, Mesa, L, Levi, L, Coleman-Wood, K, Hoffman, A, Korn-Petersen, W, Kuntz, N, Selcen, D, Abdel-Hamid, H, Bise, C, Craig, A, Nguyen, C, Weimer, J, Al-Lozi, M, Florence, J, Golumbak, P, Lopate, G, Malane, J, Malkus, B, Renna, R, Schierbacker, J, Seiner, C, Wulf, C, Blair, S, Grillo, B, Jones, K, Monasterio, E, Barrett-Adair, M, Clift, J, Feliciano, C, Young, R, Rose, K, Webster, R, Wicks, S, Chen, L, Kennedy, C, Deliz, B, Espada, S, Fuste, P, Luciano, C, Beneggi, M, Capone, L, Molteni, A, Morettini, V, Gupta, A, McNeil, R, Erickson, A, Margolis, M, Naughton, C, Parry, G, Walk, D, Arrieta, A, Bartley, N, Canelos, P, Casper, R, Cnaan, A, Duong, T, Hu, F, Sund, Z & Zimmerman, A 2014, 'Cooperative international neuromuscular research group duchenne natural history study demonstrates insufficient diagnosis and treatment of cardiomyopathy in duchenne muscular dystrophy', Muscle and Nerve, vol. 50, no. 2, pp. 250-256. https://doi.org/10.1002/mus.24163

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title = "Cooperative international neuromuscular research group duchenne natural history study demonstrates insufficient diagnosis and treatment of cardiomyopathy in duchenne muscular dystrophy",

abstract = "Introduction: Cardiomyopathy is a common cause of morbidity and death in patients with Duchenne muscular dystrophy (DMD). Methods: This investigation was a cross-sectional cross-sectional analysis of clinical data from the multi-institutional Cooperative International Neuromuscular Research Group (CINRG) DMD Natural History Study of 340 DMD patients aged 2-28 years. Cardiomyopathy was defined as shortening fraction (SF) <28% or ejection fraction (EF) <55%. Results: Two hundred thirty-one participants reported a prior clinical echocardiogram study, and 174 had data for SF or EF. The prevalence of cardiomyopathy was 27% (47 of 174), and it was associated significantly with age and clinical stage. The association of cardiomyopathy with age and clinical stage was not changed by glucocorticoid use as a covariate (P>0.68). In patients with cardiomyopathy, 57% (27 of 47) reported not taking any cardiac medications. Cardiac medications were used in 12% (15 of 127) of patients without cardiomyopathy. Conclusions: We found that echocardiograms were underutilized, and cardiomyopathy was undertreated in this DMD natural history cohort.",

keywords = "Cardiomyopathy, Duchenne muscular dystrophy, Echocardiogram, Glucocorticoid, Natural history",

author = "Christopher Spurney and Reiko Shimizu and Morgenroth, {Lauren P.} and Hanna Kolski and Heather Gordish-Dressman and Clemens, {Paula R.} and Michelle Cregan and Erica Goude and Merete Glick and Linda Johnson and Jay Han and Nanette Joyce and David Kilmer and Alina Nicorici and C. Chidambaranathan and Suresh Kumar and Laila Eliasoph and Elizabeth Hosaki and Angela Gonzales and Vivienne Harris and Angela Chiu and Jennifer Thannhauser and Lori Walker and Caitlin Wright and Mehrnaz Yousefi and Alhander, {Anne Christine} and Lisa Wahlgren and Ekstrom, {Anne Berit} and Kroksmark, {Anna Karin} and Ulrika Sterky and Marissa Birkmeier and Tina Duong and Sarah Kaminski and Kate Carroll and Katy DeValle and Rachel Kennedy and Andrew Kornberg and Victoria Rodriguez and Dani Villano and Leve, {Adina Bar} and Elana Wisband and Debbie Yaffe and Luz Andreone and Jose Corderi and Lilia Mesa and Lorena Levi and Krista Coleman-Wood and Ann Hoffman and Wendy Korn-Petersen and Nancy Kuntz and Duygu Selcen and Hoda Abdel-Hamid and Christopher Bise and Ann Craig and Casey Nguyen and Jason Weimer and M. Al-Lozi and Julaine Florence and Paul Golumbak and Glenn Lopate and Justin Malane and Betsy Malkus and Renee Renna and Jeanine Schierbacker and Catherine Seiner and Charlie Wulf and Susan Blair and Barbara Grillo and Karen Jones and Eugenio Monasterio and Meegan Barrett-Adair and Judy Clift and Cassandra Feliciano and Rachel Young and Kristy Rose and Richard Webster and Stephanie Wicks and Lucia Chen and Cameron Kennedy and Brenda Deliz and Sheila Espada and Pura Fuste and Carlos Luciano and Maria Beneggi and Luca Capone and Alessandro Molteni and Valentina Morettini and Anjali Gupta and Robert McNeil and Amy Erickson and Marcia Margolis and Cameron Naughton and Gareth Parry and David Walk and Adrienne Arrieta and Naomi Bartley and Paola Canelos and Robert Casper and Avital Cnaan and Tina Duong and Fengming Hu and Zo{\"e} Sund and Angela Zimmerman",

year = "2014",

month = aug,

day = "1",

doi = "10.1002/mus.24163",

language = "English (US)",

volume = "50",

pages = "250--256",

journal = "Muscle and Nerve",

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publisher = "John Wiley and Sons Inc.",

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TY - JOUR

T1 - Cooperative international neuromuscular research group duchenne natural history study demonstrates insufficient diagnosis and treatment of cardiomyopathy in duchenne muscular dystrophy

AU - Spurney, Christopher

AU - Shimizu, Reiko

AU - Morgenroth, Lauren P.

AU - Kolski, Hanna

AU - Gordish-Dressman, Heather

AU - Clemens, Paula R.

AU - Cregan, Michelle

AU - Goude, Erica

AU - Glick, Merete

AU - Johnson, Linda

AU - Han, Jay

AU - Joyce, Nanette

AU - Kilmer, David

AU - Nicorici, Alina

AU - Chidambaranathan, C.

AU - Kumar, Suresh

AU - Eliasoph, Laila

AU - Hosaki, Elizabeth

AU - Gonzales, Angela

AU - Harris, Vivienne

AU - Chiu, Angela

AU - Thannhauser, Jennifer

AU - Walker, Lori

AU - Wright, Caitlin

AU - Yousefi, Mehrnaz

AU - Alhander, Anne Christine

AU - Wahlgren, Lisa

AU - Ekstrom, Anne Berit

AU - Kroksmark, Anna Karin

AU - Sterky, Ulrika

AU - Birkmeier, Marissa

AU - Duong, Tina

AU - Kaminski, Sarah

AU - Carroll, Kate

AU - DeValle, Katy

AU - Kennedy, Rachel

AU - Kornberg, Andrew

AU - Rodriguez, Victoria

AU - Villano, Dani

AU - Leve, Adina Bar

AU - Wisband, Elana

AU - Yaffe, Debbie

AU - Andreone, Luz

AU - Corderi, Jose

AU - Mesa, Lilia

AU - Levi, Lorena

AU - Coleman-Wood, Krista

AU - Hoffman, Ann

AU - Korn-Petersen, Wendy

AU - Kuntz, Nancy

AU - Selcen, Duygu

AU - Abdel-Hamid, Hoda

AU - Bise, Christopher

AU - Craig, Ann

AU - Nguyen, Casey

AU - Weimer, Jason

AU - Al-Lozi, M.

AU - Florence, Julaine

AU - Golumbak, Paul

AU - Lopate, Glenn

AU - Malane, Justin

AU - Malkus, Betsy

AU - Renna, Renee

AU - Schierbacker, Jeanine

AU - Seiner, Catherine

AU - Wulf, Charlie

AU - Blair, Susan

AU - Grillo, Barbara

AU - Jones, Karen

AU - Monasterio, Eugenio

AU - Barrett-Adair, Meegan

AU - Clift, Judy

AU - Feliciano, Cassandra

AU - Young, Rachel

AU - Rose, Kristy

AU - Webster, Richard

AU - Wicks, Stephanie

AU - Chen, Lucia

AU - Kennedy, Cameron

AU - Deliz, Brenda

AU - Espada, Sheila

AU - Fuste, Pura

AU - Luciano, Carlos

AU - Beneggi, Maria

AU - Capone, Luca

AU - Molteni, Alessandro

AU - Morettini, Valentina

AU - Gupta, Anjali

AU - McNeil, Robert

AU - Erickson, Amy

AU - Margolis, Marcia

AU - Naughton, Cameron

AU - Parry, Gareth

AU - Walk, David

AU - Arrieta, Adrienne

AU - Bartley, Naomi

AU - Canelos, Paola

AU - Casper, Robert

AU - Cnaan, Avital

AU - Duong, Tina

AU - Hu, Fengming

AU - Sund, Zoë

AU - Zimmerman, Angela

PY - 2014/8/1

Y1 - 2014/8/1

N2 - Introduction: Cardiomyopathy is a common cause of morbidity and death in patients with Duchenne muscular dystrophy (DMD). Methods: This investigation was a cross-sectional cross-sectional analysis of clinical data from the multi-institutional Cooperative International Neuromuscular Research Group (CINRG) DMD Natural History Study of 340 DMD patients aged 2-28 years. Cardiomyopathy was defined as shortening fraction (SF) <28% or ejection fraction (EF) <55%. Results: Two hundred thirty-one participants reported a prior clinical echocardiogram study, and 174 had data for SF or EF. The prevalence of cardiomyopathy was 27% (47 of 174), and it was associated significantly with age and clinical stage. The association of cardiomyopathy with age and clinical stage was not changed by glucocorticoid use as a covariate (P>0.68). In patients with cardiomyopathy, 57% (27 of 47) reported not taking any cardiac medications. Cardiac medications were used in 12% (15 of 127) of patients without cardiomyopathy. Conclusions: We found that echocardiograms were underutilized, and cardiomyopathy was undertreated in this DMD natural history cohort.

AB - Introduction: Cardiomyopathy is a common cause of morbidity and death in patients with Duchenne muscular dystrophy (DMD). Methods: This investigation was a cross-sectional cross-sectional analysis of clinical data from the multi-institutional Cooperative International Neuromuscular Research Group (CINRG) DMD Natural History Study of 340 DMD patients aged 2-28 years. Cardiomyopathy was defined as shortening fraction (SF) <28% or ejection fraction (EF) <55%. Results: Two hundred thirty-one participants reported a prior clinical echocardiogram study, and 174 had data for SF or EF. The prevalence of cardiomyopathy was 27% (47 of 174), and it was associated significantly with age and clinical stage. The association of cardiomyopathy with age and clinical stage was not changed by glucocorticoid use as a covariate (P>0.68). In patients with cardiomyopathy, 57% (27 of 47) reported not taking any cardiac medications. Cardiac medications were used in 12% (15 of 127) of patients without cardiomyopathy. Conclusions: We found that echocardiograms were underutilized, and cardiomyopathy was undertreated in this DMD natural history cohort.

KW - Cardiomyopathy

KW - Duchenne muscular dystrophy

KW - Echocardiogram

KW - Glucocorticoid

KW - Natural history

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U2 - 10.1002/mus.24163

DO - 10.1002/mus.24163

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AN - SCOPUS:84904674913

SN - 0148-639X

VL - 50

SP - 250

EP - 256

JO - Muscle and Nerve

JF - Muscle and Nerve

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ER -

Cooperative international neuromuscular research group duchenne natural history study demonstrates insufficient diagnosis and treatment of cardiomyopathy in duchenne muscular dystrophy

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