Diagnostic utility of cardiac magnetic resonance for detection of cardiac involvement in female carriers of Duchenne muscular dystrophy

Igarashi, Takashi; Sugiyama, Takao; Akiyama, Masashi; Adachi, Kazutaka; Sumitomo-Ueda, Yuka; Yagi, Shusuke; Niki, Toshiyuki; Kusunose, Kenya; Tomita, Noriko; Hirata, Yoichiro; Yamaguchi, Koji; Koshiba, Kunihiko; Taketani, Yuji; Yamada, Hirotsugu; Soeki, Takeshi; Wakatsuki, Tetsuzo; Aihara, Ken-ichi; Harada, Masafumi; Nishitani, Hiromu; Sata, Masataka

doi:10.1136/ha.2010.002006

Cited by 6 publications

(10 citation statements)

References 21 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In the small number of subjects examined in our study, the common site of fibrotic change in cardiac muscle was the LV posterior inferior wall, as seen for patients with DMD [16,20]. Asymptomatic cardiomyopathy was detectable by LGE earlier than by conventional echocardiography and with high sensitivity [15]. A mild case, case 5, without muscle weakness or atrophy on CT, presented with clear LGE, despite maintenance of LV contractile ability (Supplemental Table 2).…”

Section: Discussionmentioning

confidence: 70%

“…Cardiac function was evaluated by electrocardiography, echocardiography, measurement of plasma brain natriuretic peptide (BNP), single photon emission computed tomography (SPECT), and biopsy of cardiac muscle in the mid-1990s, as needed. Since 2008, a late gadolinium enhancement (LGE) test on cardiac MRI has been performed for early detection of cardiomyopathy [14,15], using a 1.5-Tesla MRI (General Electric, Signa Excite) and an 8-channel cardiac coil. The LGE test is performed 10-15 min after administration of a gadolinium contrast agent (TR 6 ms, TE 2 ms, inversion time 260-320 ms), using the inversion-recovery gradient echo method [10].…”

Section: Methodsmentioning

confidence: 99%

“…Since 2015, we have added speckle tracking echocardiography (STE) (Vivid q and EchoPac PC, GE Healthcare, Milwaukee, WI, USA), which enables quantitative assessment of regional myocardial deformation. It has been reported that this advanced technique is useful for early detection of cardiac fibrosis due to cardiomyopathy in patients with dystrophinopathy [15][16][17][18]. A respiratory function test was also performed in some participants in the general examination.…”

Section: Methodsmentioning

confidence: 99%

“…The two deaths due to cardiac failure, at ages 49 and 53, indicate the need for early detection and treatment of cardiomyopathy. Therefore, an LGE test in cardiac MRI was introduced in 6 subjects who had subjective cardiac symptoms and required a further detailed examination (age 45-62) in 2008 [15]. Clear LGE, suggesting fibrotic cardiac muscle, was found in 5 of these subjects, despite maintenance of LV contractile ability.…”

Section: Detection and Evaluation Of Cardiomyopathymentioning

confidence: 99%

See 3 more Smart Citations

Detection and management of cardiomyopathy in female dystrophinopathy carriers

Adachi

Hashiguchi

Saito

et al. 2018

Journal of the Neurological Sciences

View full text Add to dashboard Cite

Regular health checkups for mothers of patients with Duchenne muscular dystrophy have been performed at National Hospital Organization Tokushima Hospital since 1994. Among 43 mothers participated in this study, 28 dystrophinopathy carriers were identified. Skeletal and cardiac muscle functions of these subjects were examined. High serum creatine kinase was found in 23 subjects (82.1%). Obvious muscle weakness was present in 5 (17.8%) and had progressed from 1994 to 2015. Cardiomyopathy was observed in 15 subjects (60.0%), including dilated cardiomyopathy-like damage that was more common in the left ventricular (LV) posterior wall. Late gadolinium enhancement on cardiac MRI was found in 5 of 6 subjects, suggesting fibrotic cardiac muscle. In speckle tracking echocardiography performed seven years later, global longitudinal strain was decreased in these subjects, indicating LV myocardial contractile abnormality. These results suggest that female dystrophinopathy carriers should receive regular checkups for detection and treatment of cardiomyopathy, even if they have no cardiac symptoms.

show abstract

Section: Discussionmentioning

confidence: 70%

Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Detection and Evaluation Of Cardiomyopathymentioning

confidence: 99%

See 2 more Smart Citations

Detection and management of cardiomyopathy in female dystrophinopathy carriers

Adachi

Hashiguchi

Saito

et al. 2018

Journal of the Neurological Sciences

View full text Add to dashboard Cite

show abstract

“…Muscle and cardiac symptoms were not different between those with and without LGE (9). In a cMRI study of 7 DMDcarriers, LGE was found in four of them (10). LGE was subendocardial but two patients had focal LGE in the left inferolateral wall (10).…”

Section: Discussionmentioning

confidence: 99%

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

View full text Add to dashboard Cite

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.

show abstract