Early detection of cardiac involvement in Miyoshi myopathy: 2D strain echocardiography and late gadolinium enhancement cardiovascular magnetic resonance

E. Ryoung Choi, Sung Ji Park, Yeon Hyeon Choe, Dong Ryeol Ryu, Sung A. Chang, Jin Oh Choi, Sang Chol Lee, Seung Woo Park, Byoung Joon Kim, Duk Kyung Kim, Jae Kuen Oh

Research output: Contribution to journalArticle

20 Citations (Scopus)

Abstract

Background. Miyoshi myopathy (MM) is an autosomal recessive distal myopathy characterized by early adult onset. Cardiomyopathy is a major clinical manifestation in other muscular dystrophies and an important prognostic factor. Although dysferlin is highly expressed in cardiac muscle, the effect of dysferlin deficiency in cardiac muscle has not been studied. We hypothesized that early myocardial dysfunction could be detected by 2D strain echocardiography and late gadolinium enhancement (LGE) cardiovascular magnetic resonance (CMR). Method. Five consecutive MM patients (3 male) in whom we detected the DYSF gene mutation and age-matched healthy control subjects were included. None of the patients had history of cardiac disease or signs and symptoms of overt heart failure. Patients were studied using 2D strain echocardiography and CMR, with 2D strain being obtained using the Automated Function Imaging technique. Results. All patients had preserved left ventricular systolic function. However, segmental Peak Systolic Longitudinal Strain (PSLS) was decreased in 3 patients. Global PSLS was significantly lower in patients with MM than in control subjects (p = 0.005). Basal anterior septum, basal inferior septum, mid anterior, and mid inferior septum PSLS were significantly lower in patients with MM than in control subjects (P < 0.0001, < 0.0001, 0.038 and 0.003, respectively). Four patients showed fibrosis by LGE. The reduced PSLS lesion detected by 2D strain tended to be in the same area as that which showed fibrosis by LGE. Conclusions. Patients with MM showed subclinical involvement of the heart. 2D strain and LGE are sensitive methods for detecting myocardial dysfunction prior to the development of cardiovascular symptoms. The prognostic significance of these findings warrants further longitudinal follow-up.

Original languageEnglish (US)
Article number31
JournalJournal of Cardiovascular Magnetic Resonance
Volume12
Issue number1
DOIs
StatePublished - 2010
Externally publishedYes

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Gadolinium
Echocardiography
Magnetic Resonance Spectroscopy
Myocardium
Fibrosis
Distal Myopathies
Miyoshi myopathy
Muscular Dystrophies
Cardiomyopathies
Left Ventricular Function
Signs and Symptoms
Heart Diseases
Healthy Volunteers
Heart Failure
Mutation

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine
  • Radiology Nuclear Medicine and imaging
  • Radiological and Ultrasound Technology
  • Family Practice
  • Medicine(all)

Cite this

Early detection of cardiac involvement in Miyoshi myopathy : 2D strain echocardiography and late gadolinium enhancement cardiovascular magnetic resonance. / Choi, E. Ryoung; Park, Sung Ji; Choe, Yeon Hyeon; Ryu, Dong Ryeol; Chang, Sung A.; Choi, Jin Oh; Lee, Sang Chol; Park, Seung Woo; Kim, Byoung Joon; Kim, Duk Kyung; Oh, Jae Kuen.

In: Journal of Cardiovascular Magnetic Resonance, Vol. 12, No. 1, 31, 2010.

Research output: Contribution to journalArticle

Choi, E. Ryoung ; Park, Sung Ji ; Choe, Yeon Hyeon ; Ryu, Dong Ryeol ; Chang, Sung A. ; Choi, Jin Oh ; Lee, Sang Chol ; Park, Seung Woo ; Kim, Byoung Joon ; Kim, Duk Kyung ; Oh, Jae Kuen. / Early detection of cardiac involvement in Miyoshi myopathy : 2D strain echocardiography and late gadolinium enhancement cardiovascular magnetic resonance. In: Journal of Cardiovascular Magnetic Resonance. 2010 ; Vol. 12, No. 1.
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abstract = "Background. Miyoshi myopathy (MM) is an autosomal recessive distal myopathy characterized by early adult onset. Cardiomyopathy is a major clinical manifestation in other muscular dystrophies and an important prognostic factor. Although dysferlin is highly expressed in cardiac muscle, the effect of dysferlin deficiency in cardiac muscle has not been studied. We hypothesized that early myocardial dysfunction could be detected by 2D strain echocardiography and late gadolinium enhancement (LGE) cardiovascular magnetic resonance (CMR). Method. Five consecutive MM patients (3 male) in whom we detected the DYSF gene mutation and age-matched healthy control subjects were included. None of the patients had history of cardiac disease or signs and symptoms of overt heart failure. Patients were studied using 2D strain echocardiography and CMR, with 2D strain being obtained using the Automated Function Imaging technique. Results. All patients had preserved left ventricular systolic function. However, segmental Peak Systolic Longitudinal Strain (PSLS) was decreased in 3 patients. Global PSLS was significantly lower in patients with MM than in control subjects (p = 0.005). Basal anterior septum, basal inferior septum, mid anterior, and mid inferior septum PSLS were significantly lower in patients with MM than in control subjects (P < 0.0001, < 0.0001, 0.038 and 0.003, respectively). Four patients showed fibrosis by LGE. The reduced PSLS lesion detected by 2D strain tended to be in the same area as that which showed fibrosis by LGE. Conclusions. Patients with MM showed subclinical involvement of the heart. 2D strain and LGE are sensitive methods for detecting myocardial dysfunction prior to the development of cardiovascular symptoms. The prognostic significance of these findings warrants further longitudinal follow-up.",
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T1 - Early detection of cardiac involvement in Miyoshi myopathy

T2 - 2D strain echocardiography and late gadolinium enhancement cardiovascular magnetic resonance

AU - Choi, E. Ryoung

AU - Park, Sung Ji

AU - Choe, Yeon Hyeon

AU - Ryu, Dong Ryeol

AU - Chang, Sung A.

AU - Choi, Jin Oh

AU - Lee, Sang Chol

AU - Park, Seung Woo

AU - Kim, Byoung Joon

AU - Kim, Duk Kyung

AU - Oh, Jae Kuen

PY - 2010

Y1 - 2010

N2 - Background. Miyoshi myopathy (MM) is an autosomal recessive distal myopathy characterized by early adult onset. Cardiomyopathy is a major clinical manifestation in other muscular dystrophies and an important prognostic factor. Although dysferlin is highly expressed in cardiac muscle, the effect of dysferlin deficiency in cardiac muscle has not been studied. We hypothesized that early myocardial dysfunction could be detected by 2D strain echocardiography and late gadolinium enhancement (LGE) cardiovascular magnetic resonance (CMR). Method. Five consecutive MM patients (3 male) in whom we detected the DYSF gene mutation and age-matched healthy control subjects were included. None of the patients had history of cardiac disease or signs and symptoms of overt heart failure. Patients were studied using 2D strain echocardiography and CMR, with 2D strain being obtained using the Automated Function Imaging technique. Results. All patients had preserved left ventricular systolic function. However, segmental Peak Systolic Longitudinal Strain (PSLS) was decreased in 3 patients. Global PSLS was significantly lower in patients with MM than in control subjects (p = 0.005). Basal anterior septum, basal inferior septum, mid anterior, and mid inferior septum PSLS were significantly lower in patients with MM than in control subjects (P < 0.0001, < 0.0001, 0.038 and 0.003, respectively). Four patients showed fibrosis by LGE. The reduced PSLS lesion detected by 2D strain tended to be in the same area as that which showed fibrosis by LGE. Conclusions. Patients with MM showed subclinical involvement of the heart. 2D strain and LGE are sensitive methods for detecting myocardial dysfunction prior to the development of cardiovascular symptoms. The prognostic significance of these findings warrants further longitudinal follow-up.

AB - Background. Miyoshi myopathy (MM) is an autosomal recessive distal myopathy characterized by early adult onset. Cardiomyopathy is a major clinical manifestation in other muscular dystrophies and an important prognostic factor. Although dysferlin is highly expressed in cardiac muscle, the effect of dysferlin deficiency in cardiac muscle has not been studied. We hypothesized that early myocardial dysfunction could be detected by 2D strain echocardiography and late gadolinium enhancement (LGE) cardiovascular magnetic resonance (CMR). Method. Five consecutive MM patients (3 male) in whom we detected the DYSF gene mutation and age-matched healthy control subjects were included. None of the patients had history of cardiac disease or signs and symptoms of overt heart failure. Patients were studied using 2D strain echocardiography and CMR, with 2D strain being obtained using the Automated Function Imaging technique. Results. All patients had preserved left ventricular systolic function. However, segmental Peak Systolic Longitudinal Strain (PSLS) was decreased in 3 patients. Global PSLS was significantly lower in patients with MM than in control subjects (p = 0.005). Basal anterior septum, basal inferior septum, mid anterior, and mid inferior septum PSLS were significantly lower in patients with MM than in control subjects (P < 0.0001, < 0.0001, 0.038 and 0.003, respectively). Four patients showed fibrosis by LGE. The reduced PSLS lesion detected by 2D strain tended to be in the same area as that which showed fibrosis by LGE. Conclusions. Patients with MM showed subclinical involvement of the heart. 2D strain and LGE are sensitive methods for detecting myocardial dysfunction prior to the development of cardiovascular symptoms. The prognostic significance of these findings warrants further longitudinal follow-up.

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