Cardiac abnormalities in a follow-up study on carriers of Duchenne and Becker muscular dystrophy

S. M. Schade van Westrum; E. M. Hoogerwaard; L. Dekker; T. S. Standaar; E. Bakker; P. F. Ippel; J. C. Oosterwijk; D. F. Majoor-Krakauer; A. J. van Essen; N. J. Leschot; A. A. M. Wilde; R. J. de Haan; M. de Visser; A. J. van der Kooi

doi:https://doi.org/10.1212/WNL.0b013e318221ad14

Cardiac abnormalities in a follow-up study on carriers of Duchenne and Becker muscular dystrophy

S. M. Schade van Westrum, E. M. Hoogerwaard, L. Dekker, T. S. Standaar, E. Bakker, P. F. Ippel, J. C. Oosterwijk, D. F. Majoor-Krakauer, A. J. van Essen, N. J. Leschot, A. A. M. Wilde, R. J. de Haan, M. de Visser, A. J. van der Kooi

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

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Abstract

Objectives: Cardiac involvement has been reported in carriers of dystrophin mutations giving rise to Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). The progress of these abnormalities during long-term follow-up is unknown. We describe the long-term follow-up of dilated cardiomyopathy (DCM) in DMD/BMD carriers. Methods: A long-term follow-up study was performed among Dutch DMD/BMD carriers first analyzed in 1995. A cardiac history was taken, and all carriers were assigned a functional score to assess skeletal muscle involvement. Electrocardiography and M-mode and 2-D echocardiography were performed. DCM was defined as an enlarged left ventricle with a global left ventricle dysfunction or fractional shortening less than 28%. Slow vital capacity of the lung was measured by a hand-held spirometer. Results: Ninety-nine carriers were monitored with a median follow-up of 9 years (range 7.0-10.6 years). Eleven carriers with DCM (10 DMD, 1 BMD) were identified. Nine of them developed DCM in the follow-up period. One of the patients with DCM reported in the 1995 study died of cardiac failure at age 57 years. DCM was more frequently found in carriers who were functionally symptomatic. Conclusion: Cardiac abnormalities in DMD/BMD carriers are progressive, as in patients with DMD/BMD. Neurology (R) 2011;77:62-66

Original language	English
Pages (from-to)	62-66
Journal	Neurology
Volume	77
Issue number	1
DOIs	https://doi.org/10.1212/WNL.0b013e318221ad14
Publication status	Published - 2011

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Schade van Westrum, S. M., Hoogerwaard, E. M., Dekker, L., Standaar, T. S., Bakker, E., Ippel, P. F., Oosterwijk, J. C., Majoor-Krakauer, D. F., van Essen, A. J., Leschot, N. J., Wilde, A. A. M., de Haan, R. J., de Visser, M., & van der Kooi, A. J. (2011). Cardiac abnormalities in a follow-up study on carriers of Duchenne and Becker muscular dystrophy. Neurology, 77(1), 62-66. https://doi.org/10.1212/WNL.0b013e318221ad14

@article{7499dfd0b48d431090b0c46fd44d0adc,

title = "Cardiac abnormalities in a follow-up study on carriers of Duchenne and Becker muscular dystrophy",

abstract = "Objectives: Cardiac involvement has been reported in carriers of dystrophin mutations giving rise to Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). The progress of these abnormalities during long-term follow-up is unknown. We describe the long-term follow-up of dilated cardiomyopathy (DCM) in DMD/BMD carriers. Methods: A long-term follow-up study was performed among Dutch DMD/BMD carriers first analyzed in 1995. A cardiac history was taken, and all carriers were assigned a functional score to assess skeletal muscle involvement. Electrocardiography and M-mode and 2-D echocardiography were performed. DCM was defined as an enlarged left ventricle with a global left ventricle dysfunction or fractional shortening less than 28%. Slow vital capacity of the lung was measured by a hand-held spirometer. Results: Ninety-nine carriers were monitored with a median follow-up of 9 years (range 7.0-10.6 years). Eleven carriers with DCM (10 DMD, 1 BMD) were identified. Nine of them developed DCM in the follow-up period. One of the patients with DCM reported in the 1995 study died of cardiac failure at age 57 years. DCM was more frequently found in carriers who were functionally symptomatic. Conclusion: Cardiac abnormalities in DMD/BMD carriers are progressive, as in patients with DMD/BMD. Neurology (R) 2011;77:62-66",

author = "{Schade van Westrum}, {S. M.} and Hoogerwaard, {E. M.} and L. Dekker and Standaar, {T. S.} and E. Bakker and Ippel, {P. F.} and Oosterwijk, {J. C.} and Majoor-Krakauer, {D. F.} and {van Essen}, {A. J.} and Leschot, {N. J.} and Wilde, {A. A. M.} and {de Haan}, {R. J.} and {de Visser}, M. and {van der Kooi}, {A. J.}",

year = "2011",

doi = "https://doi.org/10.1212/WNL.0b013e318221ad14",

language = "English",

volume = "77",

pages = "62--66",

journal = "Neurology",

issn = "0028-3878",

publisher = "American Academy of Neurology",

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Schade van Westrum, SM, Hoogerwaard, EM, Dekker, L, Standaar, TS, Bakker, E, Ippel, PF, Oosterwijk, JC, Majoor-Krakauer, DF, van Essen, AJ, Leschot, NJ, Wilde, AAM, de Haan, RJ, de Visser, M & van der Kooi, AJ 2011, 'Cardiac abnormalities in a follow-up study on carriers of Duchenne and Becker muscular dystrophy', Neurology, vol. 77, no. 1, pp. 62-66. https://doi.org/10.1212/WNL.0b013e318221ad14

TY - JOUR

T1 - Cardiac abnormalities in a follow-up study on carriers of Duchenne and Becker muscular dystrophy

AU - Schade van Westrum, S. M.

AU - Hoogerwaard, E. M.

AU - Dekker, L.

AU - Standaar, T. S.

AU - Bakker, E.

AU - Ippel, P. F.

AU - Oosterwijk, J. C.

AU - Majoor-Krakauer, D. F.

AU - van Essen, A. J.

AU - Leschot, N. J.

AU - Wilde, A. A. M.

AU - de Haan, R. J.

AU - de Visser, M.

AU - van der Kooi, A. J.

PY - 2011

Y1 - 2011

N2 - Objectives: Cardiac involvement has been reported in carriers of dystrophin mutations giving rise to Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). The progress of these abnormalities during long-term follow-up is unknown. We describe the long-term follow-up of dilated cardiomyopathy (DCM) in DMD/BMD carriers. Methods: A long-term follow-up study was performed among Dutch DMD/BMD carriers first analyzed in 1995. A cardiac history was taken, and all carriers were assigned a functional score to assess skeletal muscle involvement. Electrocardiography and M-mode and 2-D echocardiography were performed. DCM was defined as an enlarged left ventricle with a global left ventricle dysfunction or fractional shortening less than 28%. Slow vital capacity of the lung was measured by a hand-held spirometer. Results: Ninety-nine carriers were monitored with a median follow-up of 9 years (range 7.0-10.6 years). Eleven carriers with DCM (10 DMD, 1 BMD) were identified. Nine of them developed DCM in the follow-up period. One of the patients with DCM reported in the 1995 study died of cardiac failure at age 57 years. DCM was more frequently found in carriers who were functionally symptomatic. Conclusion: Cardiac abnormalities in DMD/BMD carriers are progressive, as in patients with DMD/BMD. Neurology (R) 2011;77:62-66

AB - Objectives: Cardiac involvement has been reported in carriers of dystrophin mutations giving rise to Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). The progress of these abnormalities during long-term follow-up is unknown. We describe the long-term follow-up of dilated cardiomyopathy (DCM) in DMD/BMD carriers. Methods: A long-term follow-up study was performed among Dutch DMD/BMD carriers first analyzed in 1995. A cardiac history was taken, and all carriers were assigned a functional score to assess skeletal muscle involvement. Electrocardiography and M-mode and 2-D echocardiography were performed. DCM was defined as an enlarged left ventricle with a global left ventricle dysfunction or fractional shortening less than 28%. Slow vital capacity of the lung was measured by a hand-held spirometer. Results: Ninety-nine carriers were monitored with a median follow-up of 9 years (range 7.0-10.6 years). Eleven carriers with DCM (10 DMD, 1 BMD) were identified. Nine of them developed DCM in the follow-up period. One of the patients with DCM reported in the 1995 study died of cardiac failure at age 57 years. DCM was more frequently found in carriers who were functionally symptomatic. Conclusion: Cardiac abnormalities in DMD/BMD carriers are progressive, as in patients with DMD/BMD. Neurology (R) 2011;77:62-66

U2 - https://doi.org/10.1212/WNL.0b013e318221ad14

DO - https://doi.org/10.1212/WNL.0b013e318221ad14

M3 - Article

C2 - 21700587

SN - 0028-3878

VL - 77

SP - 62

EP - 66

JO - Neurology

JF - Neurology

IS - 1

ER -