Journal of Neurology

, Volume 254, Issue 11, pp 1498–1503 | Cite as

Evidence of cardiovascular autonomic impairment in mitochondrial disorders

  • R. Di Leo
  • O. Musumeci
  • C. de Gregorio
  • A. Recupero
  • P. Grimaldi
  • C. Messina
  • S. Coglitore
  • G. Vita
  • A. Toscano
ORIGINAL COMMUNICATION

Abstract

Objective

To investigate autonomic nervous system (ANS) function in mitochondrial disorders (MD).

Background

MD are characterized by a wide range of clinical features, including heart abnormalities and peripheral and central nervous systems involvement. Rarely autonomic symptoms have been reported.

Methods

22 patients with MD underwent a battery of cardiovascular reflex tests including five tests of parasympathetic function and four tests of sympathetic function. Power spectral analyses (PSA) of heart rate variability in the supine and upright positions were also evaluated. Plasma levels of adrenaline, noradrenaline and dopamine were determined in the standing and lying positions.

Results

Only 4/22 patients referred symptoms related to ANS dysfunction. 46% of patients had a definite autonomic damage (i. e. an autonomic score ≥ 4). 36% showed moderate alterations with an autonomic score in the range 2–3 and 18 % had a normal autonomic function. MD patients had a significantly (p <0.03) lower increase of adrenaline level after standing.

Conclusions

Our data indicate an autonomic dysfunction in more than 80% of MD patients, even in the absence of a clinically manifested autonomic involvement. Cardiovascular autonomic investigation might be systematically employed in the characterization of MD.

Key words

mitochondrial encephalomyopathies autonomic nervous system cardiovascular reflex tests plasma catecholamines power spectral analysis 

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 1.
    Bannister R, Mathias CJ (1999) Management of postural hypotension. In:Mathias CJ, Bannister R (eds) Autonomic failure:a textbook of clinical disorders of the autonomic nervous system (4th ed). Oxford University Press, Oxford, pp 342–356Google Scholar
  2. 2.
    Bernier FP, Boneh A, Dennett X et al. (2002) Diagnostic criteria for respiratory chain disorders in adults and children. Neurology 59:1406–1411CrossRefPubMedGoogle Scholar
  3. 3.
    Di Leo R, Rodolico C, De Gregorio C, Recupero A, Coglitore S, Annesi G, Toscano A, Messina C, Vita G (2004) Cardiovascular autonomic control in myotonic dystrophy type 1:a correlative study with clinical and genetic data. Neuromuscu Disord 14:136–141CrossRefGoogle Scholar
  4. 4.
    Di Mauro S, Moraes CT (1993) Mitochondrial encephalomyopathies. Arch Neurol 50:1197–1208Google Scholar
  5. 5.
    Ewing DJ, Clarke BF (1982) Diagnosis and management of diabetic autonomic neuropathy. Br Med J 285:916–918Google Scholar
  6. 6.
    Hirano M, Silvestri G, Blake DM et al. (1994) Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE):clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder. Neurology 44:721–727PubMedGoogle Scholar
  7. 7.
    Mathias CJ, Bannister R (1999) Investigation of autonomic disorders. In:Mathias CJ, Bannister R (eds) Autonomic failure:a textbook of clinical disorders of the autonomic nervous system (4th ed). Oxford University Press, Oxford, pp169–195Google Scholar
  8. 8.
    Mathieu J, De Braekeleer M, Prevost C, Boily C (1992) Myotonic dystrophy:clinical assessment of muscular disability in an isolated population with presumed homogeneous mutation. Neurology 42:203–208PubMedGoogle Scholar
  9. 9.
    Momiyama Y, Suzuki Y, Ohtomo M, Atsumi Y, Matsuoka K, Ohsuzu F, Kimura M (2002) Cardiac autonomic nervous dysfunction in diabetic patients with a mitochondrial DNA mutation. Diabetes Care 25(12):2308–2313CrossRefPubMedGoogle Scholar
  10. 10.
    Morgan-Hughes JA, Hanna MG (1999) Mitochondrial encephalomyopathies:the enigma of genotype versus phenotype. Biochim Biophys Acta 1410:125–145CrossRefPubMedGoogle Scholar
  11. 11.
    Nissenkorn A, Zeharia, Lev D et al. (1999) Multiple presentation of mitochondrial disorders. Arch Dis Child 81:209–215PubMedCrossRefGoogle Scholar
  12. 12.
    Omboni S, Parati G, Di Rienzo M, Wieling W, Mancia G (1996) Blood pressure and heart rate variability in autonomic disorders:a critical review. Clin Auton Res 6:171–182CrossRefPubMedGoogle Scholar
  13. 13.
    Pagani M, Malfatto G, Pierini S et al. (1988) Spectral analysis of heart rate variability in the assessment of autonomic diabetic neuropathy. J Auton Nerv Syst 23:143–153CrossRefPubMedGoogle Scholar
  14. 14.
    Sahn DJ, De Maria A, Kisslo J, Weyman A (1978) Recommendation regarding quantitation in M-mode echocardiography. Results of a survey of echocardiographic measurements. Circulation 58:1072–1083PubMedGoogle Scholar
  15. 15.
    Ueno H, Shiotani H (1999) Cardiac abnormalities in diabetic patients with mutation in mitochondrial tRNA Leu(UUR) gene. Jpn Circ J 63:887–880CrossRefGoogle Scholar
  16. 16.
    van Ravenswaaij-Arts CM, Kollée LAA, Hopman JCW, Stoelinga GBA, van Geijn HP (1993) Heart rate variability. Ann Intern Med 118:436–447PubMedGoogle Scholar
  17. 17.
    Vita G, Princi P, Calabrò R, Toscano A, Manna L, Messina C (1986) Cardiovascular reflex tests. Assessment of ageadjusted normal range. J Neurol Sci 75:263–274CrossRefPubMedGoogle Scholar
  18. 18.
    Vita G, Savica V, Puglisi RM, Marabello L, Bellinghieri G, Messina C (1992) The course of autonomic neural function in chronic uraemic patients during haemodialysis treatment. Nephrol Dial Transplant 7:1022–1025PubMedGoogle Scholar
  19. 19.
    Vita G, Bellinghieri G, Trusso A et al. (1999) Uremic autonomic neuropathy studied by spectral analysis of heart rate. Kidney Int 56:232–237CrossRefPubMedGoogle Scholar
  20. 20.
    Zelnik N, Axerold FB, Leshinsky E et al. (1996) Mitochondrial encephalomyopathies presenting with features of autonomic and visceral dysfunction. Pediatr Neurol 14:251–254CrossRefPubMedGoogle Scholar

Copyright information

© Steinkopff-Verlag 2007

Authors and Affiliations

  • R. Di Leo
    • 1
  • O. Musumeci
    • 1
  • C. de Gregorio
    • 2
  • A. Recupero
    • 2
  • P. Grimaldi
    • 2
  • C. Messina
    • 1
  • S. Coglitore
    • 2
  • G. Vita
    • 1
  • A. Toscano
    • 1
  1. 1.Dept. of Neurosciences Psychiatry and AnaesthesiologyUniversity of MessinaMessinaItaly
  2. 2.Dept. of Clinical and Experimental MedicineUniversity of MessinaMessinaItaly

Personalised recommendations