New approaches to the clinical diagnosis of inherited heart muscle disease

Heart

Volumn 99, Issue 19, 2013, Pages 1451-1461

  Lopes, Luis Rocha ^a   Elliott, Perry Mark ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AGE; ANAMNESIS; ARTICLE; ATRIOVENTRICULAR BLOCK; AUTOSOMAL DOMINANT INHERITANCE; CARDIOVASCULAR MAGNETIC RESONANCE; CENTRAL NERVOUS SYSTEM DISEASE; CLINICAL ASSESSMENT; CLINICAL FEATURE; CONGENITAL DISORDER; CONGESTIVE CARDIOMYOPATHY; CORONARY ARTERY DISEASE; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST; DIAGNOSTIC VALUE; DIFFERENTIAL DIAGNOSIS; DISEASE CLASSIFICATION; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; EXERCISE TEST; FAMILY HISTORY; GENETIC DISORDER; GENETIC SCREENING; HEART AMYLOIDOSIS; HEART LEFT VENTRICLE HYPERTROPHY; HEART MUSCLE BIOPSY; HEART RIGHT VENTRICLE DYSPLASIA; HISTOPATHOLOGY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; LABORATORY TEST; LEOPARD SYNDROME; MYOCARDIAL DISEASE; MYOPATHY; NON INVASIVE PROCEDURE; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE; PERIPHERAL NEUROPATHY; PHYSICAL EXAMINATION; POSITRON EMISSION TOMOGRAPHY; PR INTERVAL; PRACTICE GUIDELINE; PRIORITY JOURNAL; QRS COMPLEX; RESTRICTIVE CARDIOMYOPATHY; SCINTIGRAPHY; SYMPTOM; T WAVE INVERSION;

IMAGING AND DIAGNOSTICS; MYOCARDIAL DISEASE;

CARDIOMYOPATHIES; DIAGNOSTIC IMAGING; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HEART FUNCTION TESTS; HEREDITY; HUMANS; MEDICAL HISTORY TAKING; PEDIGREE; PHENOTYPE; PHYSICAL EXAMINATION; PREDICTIVE VALUE OF TESTS; PROGNOSIS;

EID: 84883760401     PISSN: 13556037     EISSN: 1468201X     Source Type: Journal    
DOI: 10.1136/heartjnl-2012-301995     Document Type: Article

References (19)

1. 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
2. Jarcho JA, McKenna W, Pare JA, et al. Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1. N Engl J Med 1989;321:1372-8 (Pubitemid 19284194)
3. Kathiresan S, Srivastava D. Genetics of human cardiovascular disease. Cell 2012;148:1242-57
4. Jacoby D, McKenna WJ. Genetics of inherited cardiomyopathy. Eur Heart J 2012;33:296-304
5. Watkins H, Ashrafian H, Redwood C. Inherited cardiomyopathies. N Engl J Med 2011;364:1643-56
6. Sen-Chowdhry S, Syrris P, Pantazis A, et al. Mutational heterogeneity, modifier genes, and environmental influences contribute to phenotypic diversity of arrhythmogenic cardiomyopathy. Circ Cardiovasc Genet 2010;3:323-30
7. Richardson DR, Lane DJ, Becker EM, et al. Mitochondrial iron trafficking and the integration of iron metabolism between the mitochondrion and cytosol. Proc Natl Acad Sci USA 2010;107:10775-82
8. Gambarin FI, Disabella E, Narula J, et al. When should cardiologists suspect Anderson-Fabry disease? Am J Cardiol 2010;106:1492-9
9. Hicks J, Wartchow E, Mierau G. Glycogen storage diseases: a brief review and update on clinical features, genetic abnormalities, pathologic features, and treatment. Ultrastruct Pathol 2011;35:183-96
10. Kaski JP, Syrris P, Shaw A, et al. Prevalence of sequence variants in the RAS-MAPK signaling pathway in pre-adolescent children with hypertrophic cardiomyopathy. Circ Cardiovasc Genet 2012;5:317-26
11. Dubrey SW, Hawkins PN, Falk RH. Amyloid diseases of the heart: assessment, diagnosis, and referral. Heart 2011;97:75-84
12. Maron BJ. A phenocopy of sarcomeric hypertrophic cardiomyopathy: LAMP2 cardiomyopathy (Danon disease) from China. Eur Heart J 2012;33:570-2
13. Gollob MH, Green MS, Tang AS, et al. PRKAG2 cardiac syndrome: familial ventricular preexcitation, conduction system disease, and cardiac hypertrophy. Curr Opin Cardiol 2002;17:229-34 (Pubitemid 34553626)
14. Baccouche H, Maunz M, Beck T, et al. Differentiating cardiac amyloidosis and hypertrophic cardiomyopathy by use of three-dimensional speckle tracking echocardiography. Echocardiography 2012;29:668-77
15. Gruner C, Verocai F, Carasso S, et al. Systolic myocardial mechanics in patients with Anderson-Fabry disease with and without left ventricular hypertrophy and in comparison to nonobstructive hypertrophic cardiomyopathy. Echocardiography 2012;29:810-7
16. Phelan D, Collier P, Thavendiranathan P, et al. Relative apical sparing of longitudinal strain using two-dimensional speckle tracking echocardiography is both sensitive and specific for the diagnosis of cardiac amyloidosis. Heart 2012;98:1442-8
17. Moon JC, Sachdev B, Elkington AG, et al. Gadolinium enhanced cardiovascular magnetic resonance in Anderson-Fabry disease. Evidence for a disease specific abnormality of the myocardial interstitium. Eur Heart J 2003;24:2151-5 (Pubitemid 37486535)
18. Yilmaz A, Sechtem U. Systemic disorders in heart disease: cardiac involvement in muscular dystrophy: advances in diagnosis and therapy. Heart 2012;98:5420-9
19. Charron P, Arad M, Arbustini E, et al. Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J 2010;31:2715-26.