Herz Kardiovaskuläre Erkrankungen

, Volume 34, Issue 2, pp 141–147 | Cite as

Prognostic Factors in Chronic Heart Failure

A Review of Serum Biomarkers, Metabolic Changes, Symptoms, and Scoring Systems
Article

Abstract

Decision-making in the care for patients with chronic heart failure (CHF) has become increasingly difficult. The many available therapeutic strategies and novel treatment modalities with borderline or modest benefit call for careful risk stratification in patients with CHF. Rather than relying on highly sophisticated and expensive procedures, we may find routinely available parameters of clinical value. This review considers the importance and validity of serum biomarkers (like natriuretic peptides, uric acid, lipoproteins, and cytokines), metabolic changes (like insulin resistance or body mass index), patient measures of symptom status and exercise capacity, as well as prognostic scoring systems. There is limited evidence that the use of prognostic markers to make treatment decisions improves the outcome in CHF. Many studies still need to be done to this end.

Key Words:

Chronic heart failure Biomarker Prognosis Natriuretic peptides Uric acid 

Prognostische Faktoren bei chronischer Herzinsuffizienz. Eine Übersicht zu Biomarkern, metabolischen Faktoren, Symptomatik und Score-Systemen

Zusammenfassung

Therapieentscheidungen bei Patienten mit chronischer Herzinsuffizienz werden zunehmend schwieriger, da es viele neue Behandlungsoptionen gibt. Um neue Behandlungsformen gezielt anwenden zu können, sind Informationen zur Prognoseverbesserung notwendig. Diese prognostischen Marker sollten im Idealfall einfach zu messen und preiswert sein. Prognosemarker können Biomarker (wie natriuretische Peptide, Harnsäure, Serumlipoproteine oder Zytokine), Stoffwechselmarker (wie die Insulinsensitivität oder der Body-Mass-Index), Marker der Symptomatik und der Leistungsfähigkeit oder Prognosescores sein. Es gibt wenig Evidenz, dass die Bestimmung der Prognose herzinsuffizienter Patienten im Rahmen von Therapieentscheidungen die Ergebnisse verbessert. In diesem Forschungsbereich sind noch viele Studien notwendig.

Schlüsselwörter:

Chronische Herzinsuffizienz Biomarker Prognose Natriuretische Peptide Harnsäure 

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 1.
    Alcalai R, Metzger S, Rosenheck S et al. A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair. J Am Coll Cardiol 2003;42:319–27.PubMedCrossRefGoogle Scholar
  2. 2.
    Ashrafian H, Watkins H. Reviews of translational medicine and genomics in cardiovascular disease: new disease taxonomy and therapeutic implications cardiomyopathies: therapeutics based on molecular phenotype. J Am Coll Cardiol 2007;49:1251–64.PubMedCrossRefGoogle Scholar
  3. 3.
    Asimaki A, Syrris P, Wichter T et al. A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet 2007;81:964–73.PubMedCrossRefGoogle Scholar
  4. 4.
    Awad MM, Calkins H, Judge DP. Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Nat Clin Pract Cardiovasc Med 2008;5:258–67.PubMedCrossRefGoogle Scholar
  5. 5.
    Awad MM, Dalal D, Tichnell C et al. Recessive arrhythmogenic right ventricular dysplasia due to novel cryptic splice mutation in PKP2. Hum Mutat 2006;27:1157.PubMedCrossRefGoogle Scholar
  6. 6.
    Baig MK, Goldman JH, Caforio AL et al. Familial dilated cardiomyopathy: cardiac abnormalities are common in asymptomatic relatives and may represent early disease. J Am Coll Cardiol 1998;31:195–201.PubMedCrossRefGoogle Scholar
  7. 7.
    Basso C, Corrado D, Thiene G. Cardiovascular causes of sudden death in young individuals including athletes. Cardiol Rev 1999;7:127–35.PubMedCrossRefGoogle Scholar
  8. 8.
    Basso C, Thiene G, Corrado D et al. Hypertrophic cardiomyopathy and sudden death in the young: pathologic evidence of myocardial ischemia. Hum Pathol 2000;31:988–98.PubMedCrossRefGoogle Scholar
  9. 9.
    Beffagna G, Occhi G, Nava A et al. Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1. Cardiovasc Res 2005;65:366–73.PubMedCrossRefGoogle Scholar
  10. 10.
    Bleyl SB, Mumford BR, Thompson V et al. Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome. Am J Hum Genet 1997;61:868–72.PubMedCrossRefGoogle Scholar
  11. 11.
    Caforio AL, Iliceto S. Genetically determined myocarditis: clinical presentation and immunological characteristics. Curr Opin Cardiol 2008;23:219–26.PubMedCrossRefGoogle Scholar
  12. 12.
    Carmignac V, Salih MA, Quijano-Roy S et al. C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy. Ann Neurol 2007;61:340–51.PubMedCrossRefGoogle Scholar
  13. 13.
    Carvajal-Huerta L. Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy. J Am Acad Dermatol 1998;39:418–21.PubMedCrossRefGoogle Scholar
  14. 14.
    Chien KR. Genotype, phenotype: upstairs, downstairs in the family of cardiomyopathies. J Clin Invest 2003;111:175–8.PubMedGoogle Scholar
  15. 15.
    Clinical indications for genetic testing in familial sudden cardiac death syndromes: an HRUK position statement. Heart 2008;94:502–7.Google Scholar
  16. 16.
    Coonar AS, Protonotarios N, Tsatsopoulou A et al. Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21. Circulation 1998;97:2049–58.PubMedGoogle Scholar
  17. 17.
    Cowan J, Morales A, Dagua J et al. Genetic testing and genetic counseling in cardiovascular genetic medicine: overview and preliminary recommendations. Congest Heart Fail 2008;14:97–105.PubMedCrossRefGoogle Scholar
  18. 18.
    Dalla Volta S, Battaglia G, Zerbini E. “Auricularization” of right ventricular pressure curve. Am Heart J 1961;61:25–33.PubMedCrossRefGoogle Scholar
  19. 19.
    D’Amati G, di Gioia CR, Giordano C et al. Myocyte transdifferentiation: a possible pathogenetic mechanism for arrhythmogenic right ventricular cardiomyopathy. Arch Pathol Lab Med 2000;124:287–90.PubMedGoogle Scholar
  20. 20.
    Dec GW, Fuster V. Idiopathic dilated cardiomyopathy. N Engl J Med 1994;331:1564–75.PubMedCrossRefGoogle Scholar
  21. 21.
    Di Somma S, Marotta M, Salvatore G et al. Changes in myocardial cytoskeletal intermediate filaments and myocyte contractile dysfunction in dilated cardiomyopathy: an in vivo study in humans. Heart 2000;84:659–67.PubMedCrossRefGoogle Scholar
  22. 22.
    Elliott P, Andersson B, Arbustini E et al. Classification of the cardiomyopathies: a position statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J 2008;29:270–6.PubMedCrossRefGoogle Scholar
  23. 23.
    Elliott PM, Gimeno JR, Thaman R et al. Historical trends in reported survival rates in patients with hypertrophic cardiomyopathy. Heart 2006;92:785–91.PubMedCrossRefGoogle Scholar
  24. 24.
    Emery AE. The muscular dystrophies. Lancet 2002;359:687–95.PubMedCrossRefGoogle Scholar
  25. 25.
    Fatkin D, Graham RM. Molecular mechanisms of inherited cardiomyopathies. Physiol Rev 2002;82:945–80.PubMedGoogle Scholar
  26. 26.
    Felker GM, Thompson RE, Hare JM et al. Underlying causes and long-term survival in patients with initially unexplained cardiomyopathy. N Engl J Med 2000;342:1077–84.PubMedCrossRefGoogle Scholar
  27. 27.
    Furlanello F, Bertoldi A, Dallago M et al. Cardiac arrest and sudden death in competitive athletes with arrhythmogenic right ventricular dysplasia. Pacing Clin Electrophysiol 1998;21:331–5.PubMedCrossRefGoogle Scholar
  28. 28.
    Grossmann KS, Grund C, Huelsken J et al. Requirement of plakophilin 2 for heart morphogenesis and cardiac junction formation. J Cell Biol 2004;167:149–60.PubMedCrossRefGoogle Scholar
  29. 29.
    Grünig E, Tasman JA, Kucherer H et al. Frequency and phenotypes of familial dilated cardiomyopathy. J Am Coll Cardiol 1998;31:186–94.PubMedCrossRefGoogle Scholar
  30. 30.
    Henry WL, Gardin JM, Ware JH. Echocardiographic measurements in normal subjects from infancy to old age. Circulation 1980;62:1054–61.PubMedGoogle Scholar
  31. 31.
    Hilfiker-Kleiner D, Kaminski K, Podewski E et al. A cathepsin D-cleaved 16 kDa form of prolactin mediates postpartum cardiomyopathy. Cell 2007;128:589–600.PubMedCrossRefGoogle Scholar
  32. 32.
    Horimoto M, Akino M, Takenaka T et al. Evolution of left ventricular involvement in arrhythmogenic right ventricular cardiomyopathy. Cardiology 2000;93:197–200.PubMedCrossRefGoogle Scholar
  33. 33.
    Horimoto M, Funayama N, Satoh M et al. Histological evidence of left ventricular involvement in arrhythmogenic right ventricular dysplasia. Jpn Circ J 1989;53:1530–4.PubMedGoogle Scholar
  34. 34.
    Horisberger T, Lorenzana D, Noethiger CB et al. Isolated noncompaction of the ventricular myocardium in a patient presenting with subarachnoid hemorrhage. Int J Cardiol 2007;116:e98–100.PubMedCrossRefGoogle Scholar
  35. 35.
    Jenni R, Oechslin EN, van der Loo B. Isolated ventricular non-compaction of the myocardium in adults. Heart 2007;93:11–5.PubMedCrossRefGoogle Scholar
  36. 36.
    Jenni R, Rojas J, Oechslin E. Isolated noncompaction of the myocardium. N Engl J Med 1999;340:966–7.PubMedCrossRefGoogle Scholar
  37. 37.
    Kannankeril PJ, Bhuiyan ZA, Darbar D et al. Arrhythmogenic right ventricular cardiomyopathy due to a novel plakophilin 2 mutation: wide spectrum of disease in mutation carriers within a family. Heart Rhythm 2006;3:939–44.PubMedCrossRefGoogle Scholar
  38. 38.
    Karkkainen S, Peuhkurinen K. Genetics of dilated cardiomyopathy. Ann Med 2007;39:91–107.PubMedCrossRefGoogle Scholar
  39. 39.
    Keren A, Syrris P, McKenna WJ. Hypertrophic cardiomyopathy: the genetic determinants of clinical disease expression. Nat Clin Pract Cardiovasc Med 2008;5:158–68.PubMedCrossRefGoogle Scholar
  40. 40.
    Kilic T, Babaoglu K, Aygun F et al. Biventricular involvement in a Turkish boy with palmoplantar hyperkeratosis and curly hair, an unusual presentation of Naxos-Carvajal syndrome. Int J Cardiol 2007;115:e112–5.CrossRefGoogle Scholar
  41. 41.
    Kimura A, Harada H, Park JE et al. Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. Nat Genet 1997;16:379–82.PubMedCrossRefGoogle Scholar
  42. 42.
    Kirchhof P, Fabritz L, Zwiener M et al. Age- and training-dependent development of arrhythmogenic right ventricular cardiomyopathy in heterozygous plakoglobin-deficient mice. Circulation 2006;114:1799–806.PubMedCrossRefGoogle Scholar
  43. 43.
    Kubo T, Gimeno JR, Bahl A et al. Prevalence, clinical significance, and genetic basis of hypertrophic cardiomyopathy with restrictive phenotype. J Am Coll Cardiol 2007;49:2419–26.PubMedCrossRefGoogle Scholar
  44. 44.
    Kushwaha SS, Fallon JT, Fuster V. Restrictive cardiomyopathy. N Engl J Med 1997;336:267–76.PubMedCrossRefGoogle Scholar
  45. 45.
    Lindstrom L, Nylander E, Larsson H et al. Left ventricular involvement in arrhythmogenic right ventricular cardiomyopathy - a scintigraphic and echocardiographic study. Clin Physiol Funct Imaging 2005;25:171–7.PubMedCrossRefGoogle Scholar
  46. 46.
    Manolio TA, Baughman KL, Rodeheffer R et al. Prevalence and etiology of idiopathic dilated cardiomyopathy (summary of a National Heart, Lung, and Blood Institute workshop). Am J Cardiol 1992;69:1458–66.PubMedCrossRefGoogle Scholar
  47. 47.
    Marcus FI, Fontaine GH, Guiraudon G et al. Right ventricular dysplasia: a report of 24 adult cases. Circulation 1982;65:384–98.PubMedGoogle Scholar
  48. 48.
    Maron BJ. Hypertrophic cardiomyopathy: a systematic review. JAMA 2002;287:1308–20.PubMedCrossRefGoogle Scholar
  49. 49.
    Maron BJ, Gardin JM, Flack JM et al. Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA study. Coronary Artery Risk Development in (Young) Adults. Circulation 1995;92:785–9.PubMedGoogle Scholar
  50. 50.
    Maron BJ, McKenna WJ, Danielson GK et al. American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines. J Am Coll Cardiol 2003;42:1687–713.PubMedCrossRefGoogle Scholar
  51. 51.
    Maron BJ, Seidman JG, Seidman CE. Proposal for contemporary screening strategies in families with hypertrophic cardiomyopathy. J Am Coll Cardiol 2004;44:2125–32.PubMedCrossRefGoogle Scholar
  52. 52.
    Maron BJ, Towbin JA, Thiene G et al. Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention. Circulation 2006;113:1807–16.PubMedCrossRefGoogle Scholar
  53. 53.
    Matsuo S, Sato Y, Nakae I et al. Left ventricular involvement in arrhythmogenic right ventricular cardiomyopathy demonstrated by multidetector-row computed tomography. Int J Cardiol 2007;115:e129–31.PubMedCrossRefGoogle Scholar
  54. 54.
    McKenna WJ, Spirito P, Desnos M et al. Experience from clinical genetics in hypertrophic cardiomyopathy: proposal for new diagnostic criteria in adult members of affected families. Heart 1997;77:130–2.PubMedGoogle Scholar
  55. 55.
    McKenna WJ, Thiene G, Nava A et al. Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Task Force of the Working Group Myocardial and Pericardial Disease of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the International Society and Federation of Cardiology. Br Heart J 1994;71:215–8.PubMedCrossRefGoogle Scholar
  56. 56.
    McKoy G, Protonotarios N, Crosby A et al. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet 2000;355:2119–24.PubMedCrossRefGoogle Scholar
  57. 57.
    Melberg A, Oldfors A, Blomstrom-Lundqvist C et al. Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q. Ann Neurol 1999;46:684–92.CrossRefGoogle Scholar
  58. 58.
    Merner ND, Hodgkinson KA, Haywood AF et al. Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene. Am J Hum Genet 2008;82:809–21.PubMedCrossRefGoogle Scholar
  59. 59.
    Merten M, Meinertz T, Willems S et al. Arrhythmogenic right ventricular cardiomyopathy with left ventricular involvement and aortic dissection. Pacing Clin Electrophysiol 2004;27:408–11.PubMedCrossRefGoogle Scholar
  60. 60.
    Mestroni L, Maisch B, McKenna WJ et al. Guidelines for the study of familial dilated cardiomyopathies. Collaborative Research Group of the European Human and Capital Mobility Project on Familial Dilated Cardiomyopathy. Eur Heart J 1999;20:93–102.PubMedCrossRefGoogle Scholar
  61. 61.
    Mestroni L, Rocco C, Gregori D et al. Familial dilated cardiomyopathy: evidence for genetic and phenotypic heterogeneity. Heart Muscle Disease Study Group. J Am Coll Cardiol 1999;34:181–90.PubMedCrossRefGoogle Scholar
  62. 62.
    Mogensen J, Kubo T, Duque M et al. Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. J Clin Invest 2003;111:209–16.PubMedGoogle Scholar
  63. 63.
    Mogensen J, Murphy RT, Shaw T et al. Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. J Am Coll Cardiol 2004;44:2033–40.PubMedCrossRefGoogle Scholar
  64. 64.
    Moric-Janiszewska E, Markiewicz-Loskot G. Review on the genetics of arrhythmogenic right ventricular dysplasia. Europace 2007;9:259–66.PubMedCrossRefGoogle Scholar
  65. 65.
    Morita H, Rehm HL, Menesses A et al. Shared genetic causes of cardiac hypertrophy in children and adults. N Engl J Med 2008;358:1899–908.PubMedCrossRefGoogle Scholar
  66. 66.
    Murphy RT, Mogensen J, Shaw A et al. Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy. Lancet 2004;363:371–2.PubMedCrossRefGoogle Scholar
  67. 67.
    Nava A, Martini B, Thiene G et al. [Arrhythmogenic right ventricular dysplasia. Study of a selected population.] G Ital Cardiol 1988;18:2–9.PubMedGoogle Scholar
  68. 68.
    Norgett EE, Hatsell SJ, Carvajal-Huerta L et al. Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet 2000;9:2761–6.PubMedCrossRefGoogle Scholar
  69. 69.
    Norman M, Simpson M, Mogensen J et al. Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy. Circulation 2005;112:636–42.PubMedCrossRefGoogle Scholar
  70. 70.
    Oechslin E, Jenni R. Isolated left ventricular non-compaction: increasing recognition of this distinct, yet “unclassified” cardiomyopathy. Eur J Echocardiogr 2002;3:250–1.PubMedGoogle Scholar
  71. 71.
    Oechslin EN, Attenhofer Jost CH, Rojas JR et al. Long-term follow-up of 34 adults with isolated left ventricular noncompaction: a distinct cardiomyopathy with poor prognosis. J Am Coll Cardiol 2000;36:493–500.PubMedCrossRefGoogle Scholar
  72. 72.
    Olivotto I, Girolami F, Ackerman MJ et al. Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy. Mayo Clin Proc 2008;83:630–8.PubMedCrossRefGoogle Scholar
  73. 73.
    Paul M, Bruns HJ, Breithardt G et al. Electrocardiographic findings in patients with arrhythmogenic right ventricular cardiomyopathy and idiopathic ventricular tachycardia: potential role for risk stratification? J Am Coll Cardiol 2002;39:136A.CrossRefGoogle Scholar
  74. 74.
    Paul M, Schulze-Bahr E, Eckardt L et al. [Right ventricular tachyarrhythmias–diagnostics and therapy.] Herzschrittmacherther Elektrophysiol 2005;16:260–9.PubMedCrossRefGoogle Scholar
  75. 75.
    Pilichou K, Nava A, Basso C et al. Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy. Circulation 2006;113:1171–9.PubMedCrossRefGoogle Scholar
  76. 76.
    Priori SG, Napolitano C, Memmi M et al. Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation 2002;106:69–74.PubMedCrossRefGoogle Scholar
  77. 77.
    Priori SG, Napolitano C, Tiso N et al. Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. Circulation 2001;103:196–200.PubMedGoogle Scholar
  78. 78.
    Protonotarios N, Tsatsopoulou A. Naxos disease and Carvajal syndrome: cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy. Cardiovasc Pathol 2004;13:185–94.PubMedCrossRefGoogle Scholar
  79. 79.
    Protonotarios N, Tsatsopoulou A, Patsourakos P et al. Cardiac abnormalities in familial palmoplantar keratosis. Br Heart J 1986;56:321–6.PubMedCrossRefGoogle Scholar
  80. 80.
    Rampazzo A, Nava A, Malacrida S et al. Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet 2002;71:1200–6.PubMedCrossRefGoogle Scholar
  81. 81.
    Report of the WHO/ISFC Task Force on the Definition and Classification of Cardiomyopathies. Br Heart J 1980;44:672–3.CrossRefGoogle Scholar
  82. 82.
    Richardson P, McKenna W, Bristow M et al. Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of Cardiomyopathies. Circulation 1996;93:841–2PubMedGoogle Scholar
  83. 83.
    Ritter M, Oechslin E, Sutsch G et al. Isolated noncompaction of the myocardium in adults. Mayo Clin Proc 1997;72:26–31.PubMedCrossRefGoogle Scholar
  84. 84.
    Selcen D, Engel AG. Mutations in ZASP define a novel form of muscular dystrophy in humans. Ann Neurol 2005;57:269–76.PubMedCrossRefGoogle Scholar
  85. 85.
    Sen-Chowdhry S, Syrris P, McKenna WJ. Role of genetic analysis in the management of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy. J Am Coll Cardiol 2007;50:1813–21.PubMedCrossRefGoogle Scholar
  86. 86.
    Shirani J, Alaeddini J, Roberts WC. Comparison of modes of death and cardiac necropsy findings in fatal acute myocardial infarction in men and women >75 years of age. Am J Cardiol 2000;86:1010–2, A8, A10.PubMedCrossRefGoogle Scholar
  87. 87.
    Simpson MA, Mansour S, Ahnood D et al. Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair. Cardiology 2008;113:28–34.PubMedCrossRefGoogle Scholar
  88. 88.
    Sparkes R, Patton D, Bernier F. Cardiac features of a novel autosomal recessive dilated cardiomyopathic syndrome due to defective importation of mitochondrial protein. Cardiol Young 2007;17:215–7.PubMedCrossRefGoogle Scholar
  89. 89.
    Suzuki H, Sumiyoshi M, Kawai S et al. Arrhythmogenic right ventricular cardiomyopathy with an initial manifestation of severe left ventricular impairment and normal contraction of the right ventricle. Jpn Circ J 2000;64:209–13.PubMedCrossRefGoogle Scholar
  90. 90.
    Syrris P, Ward D, Asimaki A et al. Clinical expression of plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy. Circulation 2006;113:356–64.PubMedCrossRefGoogle Scholar
  91. 91.
    Syrris P, Ward D, Asimaki A et al. Desmoglein—2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease. Eur Heart J 2007;28:581–8.PubMedCrossRefGoogle Scholar
  92. 92.
    Thiene G, Corrado D, Basso C. Cardiomyopathies: is it time for a molecular classification? Eur Heart J 2004;25:1772–5.PubMedCrossRefGoogle Scholar
  93. 93.
    Thiene G, Nava A, Corrado D et al. Right ventricular cardiomyopathy and sudden death in young people. N Engl J Med 1988;318:129–33.PubMedGoogle Scholar
  94. 94.
    Thouet T, Krueger JJ, Paetsch I et al. ARVC with left ventricular involvement in a young woman. Eur Heart J 2006;27:2510.PubMedCrossRefGoogle Scholar
  95. 95.
    Tiso N, Stephan DA, Nava A et al. Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Hum Mol Genet 2001;10:189–94.PubMedCrossRefGoogle Scholar
  96. 96.
    Van Tintelen JP, Entius MM, Bhuiyan ZA et al. Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circulation 2006;113:1650–8.PubMedCrossRefGoogle Scholar
  97. 97.
    Varnava AM, Elliott PM, Baboonian C et al. Hypertrophic cardiomyopathy: histopathological features of sudden death in cardiac troponin T disease. Circulation 2001;104:1380–4.PubMedCrossRefGoogle Scholar
  98. 98.
    Varnava AM, Elliott PM, Sharma S et al. Hypertrophic cardiomyopathy: the interrelation of disarray, fibrosis, and small vessel disease. Heart 2000;84:476–82.PubMedCrossRefGoogle Scholar
  99. 99.
    Xia S, Wang H, Zhang X et al. Clinical presentation and genetic analysis of a five generation Chinese family with isolated left ventricular noncompaction. Intern Med 2008;47:577–83.PubMedCrossRefGoogle Scholar
  100. 100.
    Yasukawa K, Terai M, Honda A et al. Isolated noncompaction of ventricular myocardium associated with fatal ventricular fibrillation. Pediatr Cardiol 2001;22:512–4.PubMedCrossRefGoogle Scholar

Copyright information

© Urban & Vogel, Muenchen 2009

Authors and Affiliations

  1. 1.Division of CardiologyUniversity Clinic of Respiratory and Allergic DiseasesGolnikSlovenia
  2. 2.Division of Applied Cachexia Research, Department of CardiologyCampus Virchow Clinic, Charité – Universitätsmedizin BerlinBerlinGermany
  3. 3.Assistant Professor of Internal Medicine, Division of CardiologyUniversity Clinic of Respiratory and Allergic DiseasesGolnikSlovenia

Personalised recommendations