Late gadolinium enhancement as subclinical myocardial involvement in a manifesting Duchenne carrier

Finsterer, Josef; Stöllberger, Claudia; Avanzini, Marion; Bastovansky, Adam; Wexberg, Paul

doi:10.1016/j.ijcard.2010.09.041

Cited by 12 publications

(5 citation statements)

References 19 publications

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“…In a cohort study performed in the Netherlands 22 % of the carriers displayed muscle weakness of varying severity, eight per cent had dilated cardiomyopathy and asymptomatic dilatation of the left ventricle was present in 18 % [ 25 ]. CMR studies indicate that fibrosis is involved in myocardial involvement in dystrophinopathies [ 13 – 16 ]; this appears to be a consequence of the same mechanisms observed in skeletal muscles [ 25 ]: Cardiomyocyte membranes are disrupted owing to the lack of dystrophin and a subsequent increase in intracellular concentration of calcium [ 26 ]. That leads to an activation of calcium-dependent proteases resulting in changes to the muscle cell membrane, the cycoskeleton and myofibrillae and ultimately to cell necrosis [ 27 – 30 ].…”

Section: Discussionmentioning

confidence: 99%

“…DMD-patients display a diffuse distribution of intramyocardial fibrosis, as indicated by late gadolinium enhancement (LGE) on CMR [ 13 ]. There are some reports on DMD carriers with a similar pattern of disease even in absence of left ventricular dysfunction [ 14 – 16 ]. However, diffuse myocardial fibrosis often passes undetected during LGE analysis.…”

Section: Introductionmentioning

confidence: 99%

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Myocardial late gadolinium enhancement is associated with clinical presentation in Duchenne muscular dystrophy carriers

Wexberg

Avanzini

Mascherbauer

et al. 2016

Journal of Cardiovascular Magnetic Resonance

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BackgroundDuchenne muscular dystrophy (DMD) is an X-linked recessive disease that occurs in males leading to immobility and death in early adulthood. Female carriers of DMD are generally asymptomatic, yet frequently develop dilated cardiomyopathy. This study aims to detect early cardiac manifestation in DMD using cardiovascular magnetic resonance (CMR) and to evaluate its association with clinical symptoms.MethodsClinical assessment of DMD carriers included six minutes walk tests (6MWT), blood analysis, electrocardiography, echocardiography, and CMR using FLASH sequences to detect late gadolinium enhancement (LGE). T1-mapping using the Modified Look-Locker Inversion recovery (MOLLI) sequence was performed quantify extracellular volume (ECV).ResultsOf 20 carriers (age 39.47 ± 12.96 years) 17 (89.5 %) were clinically asymptomatic. ECV was mildly elevated (29.79 ± 2.92 %) and LGE was detected in nine cases (45 %). LGE positive carriers had lower left ventricular ejection fraction in CMR (64.36 ± 5.78 vs. 56.67 ± 6.89 %, p = 0.014), higher bothCK (629.89 ± 317.48 vs. 256.18 ± 109.10 U/l, p = 0.002) and CK-MB (22.13 ± 5.25 vs. 12.11 ± 2.21 U/l, p = 0.001), as well as shorter walking distances during the 6MWT (432.44 ± 96.72 vs. 514.91 ± 66.80 m, p = 0.037). 90.9 % of subjects without LGE had normal pro-BNP, whereas in 66.7 % of those presenting LGE pro-BNP was elevated (p = 0.027). All individuals without LGE were in the NYHA class I, whereas all those in NYHA classes II and III showed positive for LGE (p = 0.066).ConclusionsMyocardial involvement shown as LGE in CMR occurs in a substantial number of DMD carriers; it is associated with clinical and morphometric signs of incipient heart failure. LGE is thus a sensitive parameter for the early diagnosis of cardiomyopathy in DMD carriers.Trial registrationClinicaltrials.gov, NCT01712152 Trial registration: October 19, 2012.First patient enrolled: September 27, 2012 (retrospectively registered).

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Myocardial late gadolinium enhancement is associated with clinical presentation in Duchenne muscular dystrophy carriers

Wexberg

Avanzini

Mascherbauer

et al. 2016

Journal of Cardiovascular Magnetic Resonance

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“…DMD-carriers have been previously reported to predominantly manifest phenotypically in the skeletal muscle or myocardium ( 3). Lisinopril (5 mg/ with muscle weakness and wasting (14,15,19,20). Other DMD-carriers may develop wasting without muscle weakness and the more severely affected patients may develop slowly progressive weakness, which may be asymptomatic at onset, as in the presented case.…”

Section: Discussionmentioning

confidence: 55%

Muscular and cardiac manifestations in a Duchenne-carrier harboring a <i>dystrophin</i> deletion of exons 12-29

Finsterer

Stöllberger

Freudenthaler

et al. 2018

IRDR

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Female carriers of mutations in the dystrophin gene (DMD-carriers) may manifest clinically in the skeletal muscle, the heart, or both. Cardiac involvement may manifest before, after, or together with the muscle manifestations. A 46y female developed slowly progressive weakness of the lower and upper limbs with left-sided predominance since age 26y. Muscle enzymes were repeatedly elevated and muscle biopsy showed absence of dystrophin. MLPA analysis revealed a deletion of exons 12-29. After starting steroids at age 39y, she developed palpitations and exertional dyspnoea. Cardiac MRI at age 41y revealed mildly reduced systolic function, a slightly enlarged left ventricle, mild hypokinesia of the entire myocardium, and focal, transmural late gadolinium enhancement (LGE) of the midventricular lateral wall. She did not tolerate beta-blockers but profited from ivabradine and lisinopril. In conclusion, muscle manifestations in DMD-carriers with deletions of exons 12-29 may start years before cardiac involvement becomes clinically apparent. Progressive worsening of systolic function in DMD-carriers is attributable to progressive myocardial fibrosis, as demonstrated by LGE. Steroids may trigger the development of cardiac disease in DMD-carriers.

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“…Muscular manifestations of DMD/BMD-carriers include hyper-CKemia, weakness, wasting, muscle cramping, myalgias, rhabdomyolysis, or myositis [6][7][8][9][10]. Cardiac manifestations in DMD/BMD-carriers include dilative cardiomyopathy [11], late enhancement [12,13], or heart failure [9]. Why LVHT has not been reported in a DMD/BMDcarrier so far may be due to the rarity of LVHT in general and the absence of systemic studies on cardiac involvement and in particular LVHT in this group of patients.…”

Section: Contents Lists Available At Sciverse Sciencedirectmentioning

confidence: 99%

Left ventricular hypertrabeculation/non-compaction in a Duchenne/Becker muscular dystrophy carrier with epilepsy

Finsterer

Stöllberger

Wexberg

et al. 2012

International Journal of Cardiology

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Late gadolinium enhancement as subclinical myocardial involvement in a manifesting Duchenne carrier

Cited by 12 publications

References 19 publications

Myocardial late gadolinium enhancement is associated with clinical presentation in Duchenne muscular dystrophy carriers

Myocardial late gadolinium enhancement is associated with clinical presentation in Duchenne muscular dystrophy carriers

Muscular and cardiac manifestations in a Duchenne-carrier harboring a <i>dystrophin</i> deletion of exons 12-29

Left ventricular hypertrabeculation/non-compaction in a Duchenne/Becker muscular dystrophy carrier with epilepsy

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