Abstract
The profound and progressive neurological features largely dominate the clinical course of neuroacanthocytosis. However, the development of a cardiomyopathy is reported in up to two thirds of cases, and sudden death from cardiac arrest is not infrequent. This review summarizes current understanding of familial hypertrophic and dilated cardiomyopathies and the cardiac findings in the neuroacanthocytosis syndromes. Unraveling the molecular basis of neuroacanthocytosis may provide us with a novel cardiomyopathic mechanism.
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References
Arbustini E, Morbini P, Pilotto A, Gavazzi A, Tavazzi L (2000) Familial dilated cardiomyopathy: from clinical presentation to molecular genetics. Eur Heart J 21: 1825–1832.
Bonne G, Carrier L, Richard P, Hainque B, Schwartz K (1998) Familial hypertrophic cardiomyopathy: from mutations to functional defects. Circ Res 83: 580–593.
Bowles NE, Bowles KR, Towbin JA (2000) The “final common pathway” hypothesis and inherited cardiovascular disease. The role of cytoskeletal proteins in dilated cardiomyopathy. Herz 25: 168–175.
Brugada R et al (1997) Role of candidate modifier genes on the phenotypic expression of hypertrophy in patients with hypertrophic cardiomyopathy. J Investig Med 45: 542–551.
Caballero IR et al (2000) Autosomal recessive chorea-acanthocytosis linked to 9q21. Neurologia 15: 132–135.
Cartron JP et al (1998) Insights into the structure and function of membrane polypeptides carrying blood group antigens. Vox Sang 74(Suppl 2): 29–64.
Cavalli G, de Gregorio C, Nicosia S, Melluso C, Serra S (1995) Cardiac involvement in familial amytrophic chorea with acanthocytosis: description of two new clinical cases. Ann Ital Med Int 10: 249–252.
Chien KR (2000) Meeting Koch’s postulates for calcium signaling in cardiac hypertrophy. J Clin Invest 105: 1339–1342.
Coppin BD, Temple IK (1997) Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis). J Med Genet 34: 582–586.
Cuda G, Fananapazir L, Epstein ND, Sellers JR (1997) The in vitro motility activity of beta-cardiac myosin depends on the nature of the beta-myosin heavy chain gene mutation in hypertrophic cardiomyopathy. J Muscle Res Cell Motil 18: 275–283.
Danek A, et al (2001) McLeod neuroacanthocytosis: genotype and phenotype. Ann Neurol 50: 755–764.
Daniels GL, et al (1996) A combination of the effects of rare genotypes at the XK and KEL blood group loci results in absence of Kell system antigens from the red blood cells. Blood 88: 4045–4050.
Dutka DP, Donnelly JE, Nihoyannopoulos P, Oakley CM, Nunez DJ (1999) Marked variation in the cardiomyopathy associated with Friedreich’s ataxia. Heart 81: 141–147.
Faillace RT, Kingston WJ, Nanda NC, Griggs RC (1982) Cardiomyopathy associated with the syndrome of amyotrophic chorea and acanthocytosis. Ann Intern Med 96: 616–617.
Fananapazir L (1999) Advances in molecular genetics and management of hypertrophic cardiomyopathy. JAMA 281: 1746–1752.
Fananapazir L, Epstein ND (1994) Genotype-phenotype correlations in hypertrophic cardiomyopathy. Insights provided by comparisons of kindreds with distinct and identical beta-myosin heavy chain gene mutations. Circulation 89: 22–32.
Fananapazir L, Epstein ND (1995) Prevalence of hypertrophic cardiomyopathy and limitations of screening methods. Circulation 92: 700–704.
Fananapazir L, Chang AC, Epstein SE, McAreavey D (1992) Prognostic determinants in hypertrophic cardiomyopathy. Prospective evaluation of a therapeutic strategy based on clinical, Holter, hemodynamic, and electrophysiological findings. Circulation 86: 730–740.
Fananapazir L, McAreavey D (1997) Hypertrophic cardiomyopathy: evaluation and treatment of patients at high risk for sudden death. Pacing Clin Electrophysiol 2: 478–501.
Ferrans VJ, Rodriguez ER (1983) Specificity of light and electron microscopic features of hypertrophic obstructive and nonobstructive cardiomyopathy. Qualitative, quantitative and etiologic aspects. Eur Heart J 4(Suppl F): 9–22.
FHC Mutation Database. http://www.angis.org.au/Databases/Heart/dbsearch.html
Gollob MH, et al (2001) Identification of a gene responsible for familial Wolff-Parkinson-White syndrome. N Engl J Med 344: 1823–1831.
Gray GA, Battistini B, Webb DJ (2000) Endothelins are potent vasoconstrictors, and much more besides. Trends Pharmacol Sci 21: 38–40.
Gross KB, Skrivanek JA, Carlson KC, Kaufman DM (1985) Familial amyotrophic chorea with acanthocytosis. New clinical and laboratory investigations. Arch Neurol 42: 753–756.
Guertl B, Noehammer C, Hoefler G (2000) Metabolic cardiomyopathies. Int J Exp Pathol 81: 349–372.
Hanaoka N, et al (1999) A novel frameshift mutation in the McLeod syndrome gene in a Japanese family. J Neurol Sci 165: 6–9.
Hardie DG, Hawley SA (2001) AMP-activated protein kinase: the energy charge hypothesis revisited. Bioessays 23: 1112–1119.
Hardie RJ et al (1991) Neuroacanthocytosis. A clinical, haematological and pathological study of 19 cases. Brain 114: 13–49.
Ho M et al (1994) Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein. Cell 77: 869–880.
Johnson WG (1995) Friedreich ataxia. Clin Neurosci 3: 33–38.
Kearney MT, Cotton JM, Richardson PJ, Shah AM (2001) Viral myocarditis and dilated cardiomyopathy: mechanisms, manifestations, and management. Postgrad Med J 77: 4–10.
Kirchhefer U et al (2001) Cardiac hypertrophy and impaired relaxation in transgenic mice overexpressing triadin-1. J Biol Chem 276: 4142–4149.
Kiriazis H, Kranias EG (2000) Genetically engineered models with alterations in cardiac membrane calcium-handling proteins. Annu Rev Physiol 62: 321–351.
Leier CV (2001) Dilated cardiomyopathy. Curr Treat Op Cardiovasc Med 3: 451–462.
Lodi R, Taylor DJ, Schapira AH (2001) Mitochondrial dysfunction in Friedreich’s ataxia. Biol Signals Recept 10: 263–270.
Malandrini A et al (1993) Choreo-acanthocytosis like phenotype without acanthocytes: clinicopathological case report. A contribution to the knowledge of the functional pathology of the caudate nucleus. Acta Neuropathol (Berl) 86: 651–658.
Malandrini A et al (1994) Atypical McLeod syndrome manifested as X-linked chorea-acanthocytosis, neuromyopathy and dilated cardiomyopathy: report of a family. J Neurol Sci 124: 89–94.
Marian AJ, Roberts R (2001) The molecular genetic basis for hypertrophic cardiomyopathy. J Mol Cell Cardiol 33: 655–670.
Marks AR, Priori S, Memmi M, Kontula K, Laitinen PJ (2002) Involvement of the cardiac ryanodine receptor/calcium release channel in catecholaminergic polymorphic ventricular tachycardia. J Cell Physiol 190: 1–6.
Mohiddin SA et al (2003) Utility of genetic screening in hypertrophic cardiomyopathy: Prevalence and significance of novel and double (homozygous and heterozygous) ß-Myosin mutations. Genetic Testing 7: 21–27.
Molkentin JD et al (1998) A calcineurin-dependent transcriptional pathway for cardiac hypertrophy. Cell 93: 215–228.
Mortensen LH (1999) Endothelin and the central and peripheral nervous systems: a decade of endothelin research. Clin Exp Pharmacol Physiol 26: 980–984.
National Institutes of Health Clinical Studies: http://clinicalstudies.info.nih.gov/index.html. Keyword Neuroacanthocytosis.
Olson TM et al (2002) Myosin light chain mutation causes autosomal-recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology. Circulation 21;105: 2337–2340.
Palmiter KA et al (2000) R403Q and L908V mutant beta-cardiac myosin from patients with familial hypertrophic cardiomyopathy exhibit enhanced mechanical performance at the single molecule level. J Muscle Res Cell Motil 21: 609–620.
Piano MR (2002) Alcoholic cardiomyopathy: incidence, clinical characteristics, and pathophysiology. Chest 121: 1638–1650.
Pieske B et al (1999) Functional effects of endothelin and regulation of endothelin receptors in isolated human nonfailing and failing myocardium. Circulation 99: 1802–1809.
Poetter K et al (1996) Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle. Nat Genet 13: 63–69.
Rampoldi L et al (2001) A conserved sorting-associated protein is mutant in chorea-acanthocytosis. Nat Genet 28: 119–120.
Redman CM, Russo D, Lee S (1999) Kell, Kx and the McLeod syndrome. Baillieres Best Pract Res Clin Haematol 12: 621–635.
Richardson P et al (1996) Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies. Circulation 93: 841–842.
Russo D, Wu X, Redman CM, Lee S (2000) Expression of Kell blood group protein in nonerythroid tissues. Blood 96: 340–346.
Ruwhof C, van der Laarse A (2000) Mechanical stress-induced cardiac hypertrophy: mechanisms and signal transduction pathways. Cardiovasc Res 47: 23–37.
Sachdev B, Elliott PM, McKenna WJ (2002) Cardiovascular complications of neuromuscular disorders. Curr Treat Op Cardiovasc Med 4: 171–179.
Saltzberg MT (2000) Secondary and infiltrative cardiomyopathies. Curr Treat Op Cardiovasc Med 2: 373–384.
Sato Y et al (1998) Cardiac-specific overexpression of mouse cardiac calsequestrin is associated with depressed cardiovascular function and hypertrophy in transgenic mice. J Biol Chem 273: 28470–28477.
Schonberger J, Seidman CE (2001) Many roads lead to a broken heart: the genetics of dilated cardiomyopathy. Am J Hum Genet. 69: 249–260.
Seidman CE, Seidman JG (1998) Molecular genetic studies of familial hypertrophic cardiomyopathy. Basic Res Cardiol 93(Suppl 3): 13–16.
Seidman JG, Seidman C (2001) The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms. Cell 104: 557–567.
Singal PK, Iliskovic N (1998) Doxorubicin-induced cardiomyopathy. N Engl J Med 339: 900–905.
Sorrentino G, De Renzo A, Miniello S, Nori O, Bonavita V (1999) Late appearance of acanthocytes during the course of chorea-acanthocytosis. J Neurol Sci 163: 175–178.
Spitz MC, Jankovic J, Killian JM (1985) Familial tic disorder, parkinsonism, motor neuron disease, and acanthocytosis: a new syndrome. Neurology 35: 366–370.
Takashima H et al (1994) A family of McLeod syndrome, masquerading as chorea-acanthocytosis. J Neurol Sci 124: 56–60.
Towbin JA, Bowles NE (2001) Molecular genetics of left ventricular dysfunction. Curr Mol Med 1: 81–90.
Wigle ED (2001) Cardiomyopathy: The diagnosis of hypertrophic cardiomyopathy. Heart 86: 709–714.
Witt TN et al (1992) McLeod syndrome: a distinct form of neuroacanthocytosis. Report of two cases and literature review with emphasis on neuromuscular manifestations. J Neurol 239: 302–306.
Marsh WL (1983) Deleted antigens of the Rhesus and Kell blood groups: Association with cell membrane defects. In: Garraty G (ed.) Blood group antigens and disease. Arlington, Virginia: American Association of Blood Banks 165–185
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Mohiddin, S.A., Fananapazir, L. (2004). Cardiac Involvement in the Neuroacanthocytosis Syndromes. In: Danek, A. (eds) Neuroacanthocytosis Syndromes. Springer, Dordrecht. https://doi.org/10.1007/1-4020-2898-9_16
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DOI: https://doi.org/10.1007/1-4020-2898-9_16
Publisher Name: Springer, Dordrecht
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