New insights into the pathology of inherited cardiomyopathy

Heart

Volumn 91, Issue 2, 2005, Pages 257-264

  Hughes, Siân E ^a   McKenna, William J ^b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON HOSPITALS   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID; AMYLOID A PROTEIN; APOLIPOPROTEIN A1; APOLIPOPROTEIN A2; CREATINE KINASE; DESMOPLAKIN; DYSTROPHIN; GENE PRODUCT; PLAKOGLOBIN; PREALBUMIN; TAFAZZIN; UNCLASSIFIED DRUG;

ARRHYTHMOGENESIS; ARRHYTHMOGENIC RIGHT VENTRICLE CARDIOMYOPATHY; ARTICLE; BARTH SYNDROME; CARDIOMYOPATHY; CONGESTIVE CARDIOMYOPATHY; CONGESTIVE HEART FAILURE; FAMILIAL DISEASE; GENE LOCUS; GENE MUTATION; GENETIC DISORDER; GENOTYPE; HEART AMYLOIDOSIS; HEART ARRHYTHMIA; HEART MUSCLE BIOPSY; HEART VENTRICLE HYPERTROPHY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MORTALITY; PHENOTYPE; PRIORITY JOURNAL; RESTRICTIVE CARDIOMYOPATHY; SUDDEN DEATH; X CHROMOSOME LINKED DISORDER;

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA; CARDIOMYOPATHIES; CARDIOMYOPATHY, DILATED; CARDIOMYOPATHY, HYPERTROPHIC; CARDIOMYOPATHY, RESTRICTIVE; HUMANS; PEDIGREE;

EID: 12744255130     PISSN: 13556037     EISSN: None     Source Type: Journal    
DOI: 10.1136/hrt.2004.040337     Document Type: Article

References (20)

1. Richardson P, McKenna WJ, Bristow M, et al. Report of the 1995 WHO/ISFC task force on the definition and classification of cardiomyopathies. Circulation 1996;93:841-42.
2. Towbin JA, Bowles NE. The failing heart. Nature 2002;415:227-33. An excellent up-to-date review of the identification of the genes responsible for cardiomyopathies providing further insights into the pathogenesis of these disorders.
3. Bowles NE, Bowles KR, Towbin JA. The "final common pathway" hypothesis and inherited cardiovascular disease. The role of cytoskeletal proteins in dilated cardiomyopathy. Herz 2000;25:168-75.
4. Sinagra G, Di Lenarda A, Brodsky GL, et al. Current perspective. New insights into the molecular basis of familial dilated cardiomyopathy. Ital Heart J 2001;2:280-6. A comprehensive review of the molecular genetic basis of FDCM.
5. Sedmera D, Pexieder T, Vuillemin M, et al. Developmental patterning of the myocardium. Anat Rec 2000;258:319-37. An excellent review article with stunning electron micrographs explaining developmental patterning of the myocardium. This article provides a unique insight into the pathology of isolated LVNC.
6. Kushwaha SS, Fallon JT, Fuster V. Restrictive cardiomyopathy. N Engl J Med 1997;336:267-76. A helpful review article providing an overview of the pathogenesis, natural history, and diagnostic evaluation of the restrictive cardiomyopathies.
7. Klein AL, Scalia GM. In: Topol EJ, ed. Textbook of cardiovascular medicine. Philadelphia: Lippincott-Raven Publishers, 1998. A comprehensive review of the restrictive cardiomyopathies.
8. Westermark P, Bergstrom J, Solomon A, et al. Transthyretin-derived senile systemic amyloidosis: clinicopathologic and structural considerations. Amyloid 2003;10(suppl 1):48-4. A study reviewing necropsy material from 33 patients with senile systemic amyloidasis and providing fresh insights into the clinicopathological features and pathogenesis of this disease.
9. Smith TJ, Kyle RA, Lie JT. Clinical significance of histopathologic patterns of cardiac amyloidosis. Mayo Clin Proc 1984;59:547-55. A necropsy study describing the gross and microscopic pathology of cardiac amyloidosis and comparing the extent and pattern of amyloid deposits in primary amyloidosis and senile amyloidosis.
10. Andy JJ. Aetiology of endomyocardial fibrosis (EMF). West Afr J Med 2001;20:199-207. An excellent review of the aetiology and pathology of tropical and temperate EMF.
11. Bosso C, Thiene G, Corrado D, et al. Arrhythmogenic right ventricular cardiomyopathy. Dysplasia, dystrophy or myocarditis? Circulation 1996;94:983-91. This landmark study describes and explains the clinicopathological profile and natural history of ARVC.
12. Corrado D, Fontaine G, Marcus FI, et al. Arrhythmogenic right ventricular dysplasia/cardiomyopathy; need for an international registry. Study group on arrhythmogenic right ventricular dysplasia/cardiomyopathy of the working groups of myocardial and pericardial disease and arrhythmias of the European Society of Cardiology and of the scientific council of cardiomyopathies of the World Heart Federation. Circulation 2000;101:E101-6. This article provides a comprehensive review of the major progress over the last decade in our understanding of the aetiopathogenesis, morbid anatomy, and clinical presentation of ARVC.
13. D'Amati G, Leone O, Di Gioa CRT, et al. Arrhythmogenic right ventricular cardiomyopathy: clinicopathologic correlation based on a revised definition of pathologic patterns. Hum Pathol 2001;32:1078-86. This article describes the different pathological patterns encountered in ARVC.
14. Burke AP, Farb A, Tashko G, et al. Arrhythmogenic right ventricular cardiomyopathy and fatty replacement or the right ventricular myocardium: are they different diseases? Circulation 1998;97:1571-80. This article examines the relation between ARVC and adipose infiltration of the right ventricle. The study concludes that adipose infiltration per se should not be considered synonymous with ARVC.
15. Gallo P, D'Amati G, Pellicia F. Pathologic evidence of extensive left ventricular involvement in arrhythmogenic right ventricular cardiomyopathy. Hum Pathol 1992;23:948-52.
16. Shirani J, Berezowski K, Roberts WC. Quantitative measurement of normal adipose and excessive (cor adiposum) subepicardial adipose tissue, its clinical significance and its effect on electrocardiographic QRS voltage. Am J Cardiol 1995;76:414-18. This article addresses the contribution of cardiac adipose tissue to heart weight, which may constitute up to 50% of the cardiac mass.
17. Maran BJ. Hypertrophic cardiomyopathy. A systematic review. JAMA 2002;287:1308-20. An up-to-date review article providing a comprehensive systematic analysis of the HCM literature.
18. Teare D. Asymmetrical hypertrophy of the heart in young adults. Br Heart J 1958;20:1-8. The classical article by Donald Teare describing the necropsy findings in a series of young adults, which prompted recognition or HCM.
19. Hughes SE. The pathology of hypertrophic cardiomyopathy. Histopathology 2004;44:412-27.
20. Marian AJ, Salek L, Lutucuta S. Molecular genetics and pathogenesis of hypertrophic cardiomyopathy. Minerva Med 2001;92:435-51. An excellent review article describing and explaining the molecular genetics and pathogenesis of HCM.