Highlights
- •PEO patients have increased myocardial fibrosis and early cardiac dysfunction.
- •Cardiac dysfunction should receive more attention in the management of PEO.
- •TDI and IBS are useful tools for assessing cardiac function in PEO patients.
Abstract
Myocardial involvement has not been extensively investigated in mitochondrial myopathies.
The aim of the study was to assess the myocardial morpho-functional changes in patients
with chronic progressive external ophthalmoplegia (PEO).
Twenty patients with PEO and 20 controls underwent standard echocardiography with
tissue Doppler imaging (TDI) and integrated backscatter (IBS) analyses. These techniques
are capable of providing non-invasively the early, subtle structural and functional
changes of the myocardium. TDI myocardial systolic (Sm) and early (Em) and late (Am) diastolic velocities of left ventricular walls were determined. The systo-diastolic
variation of IBS was also determined.
Patients with PEO exhibited lower Sm, lower Em, and higher Am, and a reduced Em/Am ratio than controls (p < 0.001 for all) at interventricular septum and lateral wall levels. In PEO patients,
septal and posterior wall cyclic variations of IBS were significantly lower than those
in controls (p < 0.001).
Patients with PEO showed myocardial wall remodeling characterized by increased fibrosis
and early left ventricular systo-diastolic function abnormalities. Although cardiac
involvement in PEO is generally considered to be limited to the cardiac conduction
system, left ventricular dysfunction may be present and should receive more attention
in the management of these patients.
Keywords
To read this article in full you will need to make a payment
Purchase one-time access:
Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online accessOne-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:
Subscribe to Journal of the Neurological SciencesAlready a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
References
- Mitochondrial respiratory-chain diseases.N Engl J Med. 2003; 348: 2656-2668
- Prevalence of mitochondrial DNA disease in adults.Ann Neurol. 2008; 63: 35-39
- Mitochondrial diseases: a nosological update.Acta Neurol Scand. 2007; 115: 211-221
- Chronic progressive ophthalmoplegia with large-scale mtDNA rearrangement: can we predict progression?.Brain. 2007; 130: 1516-1524
- Cardiac dysfunction in patients with chronic progressive external ophthalmoplegia.Clin Cardiol. 1997; 20: 239-243
- Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects.Circulation. 1995; 91: 955-961
- Clinical application of pulsed Doppler tissue imaging for assessing abnormal left ventricular relaxation.Am J Cardiol. 1997; 79: 921-928
- Is Doppler tissue velocity during early left ventricular filling preload independent?.Heart. 2002; 87: 336-339
- Color Doppler myocardial imaging: a new technique for the assessment of myocardial function.J Am Soc Echocardiogr. 1994; 7: 441-458
- Diagnostic criteria for respiratory chain disorders in adults and children.Neurology. 2002; 59: 1406-1411
- Cytochrome c oxidase deficiency in Leigh syndrome.Ann Neurol. 1987; 22: 498-506
- Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene.Neuromuscul Disord. 2003; 13: 162-165
- The committee on M-mode Standardization of the American Society of Echocardiography: recommendations regarding quantitation in M-mode echocardiography. Results of a survey of echocardiographic measurements.Circulation. 1978; 58: 1072-1083
- Echocardiographic determination of left ventricular mass in man. Anatomic validation of the method.Circulation. 1977; 55: 613-618
- Ultrasonic tissue characterization of the myocardium in anorexia nervosa.Acta Paediatr. 2003; 92: 297-300
- Lumping or splitting? ‘Ophthalmoplegia-plus’ or Kearns–Sayre syndrome?.Ann Neurol. 1977; 1: 37-54
- Cardiac abnormalities in chronic progressive external ophthalmoplegia.Br Heart J. 1976; 38: 526-529
- Doppler tissue imaging: a non-invasive technique for evaluation of left ventricular relaxation and filling pressures.J Am Coll Cardiol. 1997; 30: 1527-1533
- Assessment of mitral annulus velocity by Doppler tissue imaging in the evaluation of left ventricular diastolic function.J Am Coll Cardiol. 1997; 30: 474-480
- Myocardial longitudinal motion by tissue velocity imaging in the evaluation of patients with myocardial infarction.J Am Soc Echocardiogr. 2000; 13: 818-826
- Mitral annular descent velocity by tissue Doppler echocardiography as an index of global left ventricular function.Am J Cardiol. 1996; 77: 979-984
- Echocardiographic patterns of myocardial fibrosis in hypertensive patients: endomyocardial biopsy versus ultrasonic tissue characterization.J Am Soc Echocardiogr. 1997; 10: 657-664
- The dependence of ultrasonic attenuation and backscatter on collagen content in dog and rabbit hearts.Circ Res. 1980; 47: 48-58
- Applicability of ultrasonic tissue characterisation for longitudinal assessment and differentiation of calcification and fibrosis in cardiomyopathy.J Am Coll Cardiol. 1984; 4: 88-95
- Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy.Neurology. 1996; 46: 1329-1334
- Induction of mitochondrial biogenesis is a maladaptive mechanism in mitochondrial cardiomyopathies.J Am Coll Cardiol. 2007; 50: 1362-1369
- Fatal mitochondrial cardiomyopathy in Kearns–Sayre syndrome.Virchows Arch A Pathol Anat Histopathol. 1986; 408: 611-621
- Do normal d-dimer levels reliably exclude cerebral sinus thrombosis?.Stroke. 2004; 35: 2820-2825
- Cerebral infarction associated with Kearns–Sayre syndrome-related cardiomyopathy.Neurology. 1996; 46: 826-828
Article info
Publication history
Published online: July 28, 2014
Accepted:
July 21,
2014
Received in revised form:
July 20,
2014
Received:
November 20,
2013
Identification
Copyright
© 2014 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
