Genetics of Restrictive Cardiomyopathy

Heart Failure Clinics

Volumn 6, Issue 2, 2010, Pages 179-186

  Sen Chowdhry, Srijita ^a   Syrris, Petros ^b   McKenna, William J ^b  

^a IMPERIAL COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Constrictive pericarditis; Diastolic dysfunction; Myocardial restriction; Restrictive cardiomyopathy; Sarcomeric disease

Indexed keywords

ANTHRACYCLINE DERIVATIVE; BETA 2 MICROGLOBULIN; BUSULFAN; ERGOTAMINE; MERCURY; METHYSERGIDE; SEROTONIN;

AGING; AMYLOIDOSIS; AUTOSOMAL RECESSIVE DISORDER; CARCINOID SYNDROME; CARDIOTOXICITY; CLINICAL FEATURE; CONGESTIVE CARDIOMYOPATHY; CONSTRICTIVE PERICARDITIS; DIASTOLIC BLOOD PRESSURE; DIASTOLIC DYSFUNCTION; DISEASE ASSOCIATION; DOPPLER FLOWMETRY; ECHOCARDIOGRAPHY; EOSINOPHILIA; FABRY DISEASE; GAUCHER DISEASE; GENETIC ASSOCIATION; GENETICS; GLYCOGEN STORAGE DISEASE; HEART CATHETERIZATION; HEART LEFT VENTRICLE FILLING PRESSURE; HEART LEFT VENTRICLE HYPERTROPHY; HEART MUSCLE COMPLIANCE; HEART MUSCLE FIBROSIS; HEART VENTRICLE PRESSURE; HEMOCHROMATOSIS; HEMODYNAMICS; HETEROZYGOSITY; HUMAN; HURLER SYNDROME; HYPEREOSINOPHILIC SYNDROME; HYPERTROPHIC CARDIOMYOPATHY; IMAGING; ISCHEMIA; ISOLATED HEART; LUNG BLOOD FLOW; METASTASIS; MISSENSE MUTATION; MORBIDITY; MORTALITY; MUSCLE RELAXATION; PSEUDOXANTHOMA ELASTICUM; PULSE WAVE; RADIATION; REDUCTION; RESTRICTIVE CARDIOMYOPATHY; REVIEW; SARCOIDOSIS; SENSITIVITY AND SPECIFICITY; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTEMIC SCLEROSIS; THORAX PRESSURE; X CHROMOSOME LINKAGE;

CARDIOMYOPATHY, HYPERTROPHIC; CARDIOMYOPATHY, RESTRICTIVE; DIASTOLE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; PERICARDITIS, CONSTRICTIVE; RISK FACTORS; SARCOMERES;

EID: 77949899628     PISSN: 15517136     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.hfc.2009.11.005     Document Type: Review

References (43)

1. Kass D.A., Bronzwaer J.G., and Paulus W.J. What mechanisms underlie diastolic dysfunction in heart failure?. Circ Res 94 (2004) 1533-1542
2. Garcia M.J., Rodriguez L., Ares M., et al. Differentiation of constrictive pericarditis from restrictive cardiomyopathy: assessment of left ventricular diastolic velocities in longitudinal axis by Doppler tissue imaging. J Am Coll Cardiol 27 (1996) 108-114
3. Goldstein J.A. Cardiac tamponade, constrictive pericarditis, and restrictive cardiomyopathy. Curr Probl Cardiol 29 (2004) 503-567
4. Hancock E.W. Differential diagnosis of restrictive cardiomyopathy and constrictive pericarditis. Heart 86 (2001) 343-349
5. Rajagopalan N., Garcia M.J., Rodriguez L., et al. Comparison of new Doppler echocardiographic methods to differentiate constrictive pericardial heart disease and restrictive cardiomyopathy. Am J Cardiol 87 (2001) 86-94
6. Kushwaha S.S., Fallon J.T., and Fuster V. Restrictive cardiomyopathy. N Engl J Med 336 (1997) 267-276
7. Allanore Y., Wipff J., Kahan A., et al. Genetic basis for systemic sclerosis. Joint Bone Spine 74 (2007) 577-583
8. Clarke L.A. The mucopolysaccharidoses: a success of molecular medicine. Expert Rev Mol Med 10 (2008) e1
9. Shin Y.S. Glycogen storage disease: clinical, biochemical, and molecular heterogeneity. Semin Pediatr Neurol 13 (2006) 115-120
10. Adams P.C., and Barton J.C. Haemochromatosis. Lancet 370 (2007) 1855-1860
11. Desnick R.J., Brady R., Barranger J., et al. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 138 (2003) 338-346
12. MacDermot K.D., Holmes A., and Miners A.H. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet 38 (2001) 769-775
13. Hofmann S., Franke A., Fischer A., et al. Genome-wide association study identifies ANXA11 as a new susceptibility locus for sarcoidosis. Nat Genet 40 (2008) 1103-1106
14. Hirschfield G.M. Amyloidosis: a clinico-pathophysiological synopsis. Semin Cell Dev Biol 15 (2004) 39-44
15. Merlini G., and Bellotti V. Molecular mechanisms of amyloidosis. N Engl J Med 349 (2003) 583-596
16. Tanaka F., Migita K., Honda S., et al. Clinical outcome and survival of secondary (AA) amyloidosis. Clin Exp Rheumatol 21 (2003) 343-346
17. Hassan W., Al-Sergani H., Mourad W., et al. Amyloid heart disease. New frontiers and insights in pathophysiology, diagnosis, and management. Tex Heart Inst J 32 (2005) 178-184
18. Kyle R.A., Spittell P.C., Gertz M.A., et al. The premortem recognition of systemic senile amyloidosis with cardiac involvement. Am J Med 101 (1996) 395-400
19. Olson L.J., Gertz M.A., Edwards W.D., et al. Senile cardiac amyloidosis with myocardial dysfunction. Diagnosis by endomyocardial biopsy and immunohistochemistry. N Engl J Med 317 (1987) 738-742
20. Lachmann H.J., Booth D.R., Booth S.E., et al. Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. N Engl J Med 346 (2002) 1786-1791
21. Hawkins P.N., Lachmann H.J., and McDermott M.F. Interleukin-1-receptor antagonist in the Muckle-Wells syndrome. N Engl J Med 348 (2003) 2583-2584
22. Ammash N.M., Seward J.B., Bailey K.R., et al. Clinical profile and outcome of idiopathic restrictive cardiomyopathy. Circulation 101 (2000) 2490-2496
23. Russo L.M., and Webber S.A. Idiopathic restrictive cardiomyopathy in children. Heart 91 (2005) 1199-1202
24. Fitzpatrick A.P., Shapiro L.M., Rickards A.F., et al. Familial restrictive cardiomyopathy with atrioventricular block and skeletal myopathy. Br Heart J 63 (1990) 114-118
25. Ishiwata S., Nishiyama S., Seki A., et al. Restrictive cardiomyopathy with complete atrioventricular block and distal myopathy with rimmed vacuoles. Jpn Circ J 57 (1993) 928-933
26. Cooke R.A., Chambers J.B., and Curry P.V. Noonan's cardiomyopathy: a non-hypertrophic variant. Br Heart J 71 (1994) 561-565
27. 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 111 (2003) 209-216
28. Angelini A., Calzolari V., Thiene G., et al. Morphologic spectrum of primary restrictive cardiomyopathy. Am J Cardiol 80 (1997) 1046-1050
29. Kubo T., Gimeno J.R., Bahl A., et al. Prevalence, clinical significance, and genetic basis of hypertrophic cardiomyopathy with restrictive phenotype. J Am Coll Cardiol 49 (2007) 2419-2426
30. Kostareva A., Gudkova A., Sjöberg G., et al. Deletion in TNNI3 gene is associated with restrictive cardiomyopathy. Int J Cardiol 131 (2009) 410-412
31. Ware S.M., Quinn M.E., Ballard E.T., et al. Pediatric restrictive cardiomyopathy associated with a mutation in beta-myosin heavy chain. Clin Genet 73 (2008) 165-170
32. Karam S., Raboisson M.J., Ducreux C., et al. A de novo mutation of the beta cardiac myosin heavy chain gene in an infantile restrictive cardiomyopathy. Congenit Heart Dis 3 (2008) 138-143
33. Peddy S.B., Vricella L.A., Crosson J.E., et al. Infantile restrictive cardiomyopathy resulting from a mutation in the cardiac troponin T gene. Pediatrics 117 (2006) 1830-1833
34. Menon S., Michels V., Pellikka P., et al. Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology. Clin Genet 74 (2008) 445-454
35. Miller T., Szczesna D., Housmans P.R., et al. Abnormal contractile function in transgenic mice expressing a familial hypertrophic cardiomyopathy-linked troponin T (I79N) mutation. J Biol Chem 276 (2001) 3743-3755
36. Rust E.M., Albayya F.P., and Metzger J.M. Identification of a contractile deficit in adult cardiac myocytes expressing hypertrophic cardiomyopathy-associated mutant troponin T proteins. J Clin Invest 103 (1999) 1459-1467
37. Westermann D., Knollmann B.C., Steendijk P., et al. Diltiazem treatment prevents diastolic heart failure in mice with familial hypertrophic cardiomyopathy. Eur J Heart Fail 8 (2006) 115-121
38. Thaman R., Gimeno J.R., Murphy R.T., et al. Prevalence and clinical significance of systolic impairment in hypertrophic cardiomyopathy. Heart 91 (2005) 920-925
39. Fujino N., Shimizu M., Ino H., et al. A novel mutation Lys273Glu in the cardiac troponin T gene shows high degree of penetrance and transition from hypertrophic to dilated cardiomyopathy. Am J Cardiol 89 (2002) 29-33
40. Kaski J.P., Syrris P., Burch M., et al. Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes. Heart 94 (2008) 1478-1484
41. Arbustini E., Morbini P., Grasso M., et al. Restrictive cardiomyopathy, atrioventricular block and mild to subclinical myopathy in patients with desmin-immunoreactive material deposits. J Am Coll Cardiol 31 (1998) 645-653
42. Kostera-Pruszczyk A., Pruszczyk P., Kamińska A., et al. Diversity of cardiomyopathy phenotypes caused by mutations in desmin. Int J Cardiol 117 (2007) 244-253
43. Goldfarb L.G., Park K.Y., Cervenáková L., et al. Missense mutations in desmin associated with familial cardiac and skeletal myopathy. Nat Genet 19 (1998) 402-403