Clinical Screening and Genetic Testing

Clinics in Laboratory Medicine

Volumn 30, Issue 4, 2010, Pages 775-784

  Deo, Rahul C ^a   MacRae, Calum A ^b  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

Author keywords

Genetic architecture; Genetic screening; Mendelian disorders; Penetrance

Indexed keywords

APOLIPOPROTEIN A1; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; CALCIUM CHANNEL BLOCKING AGENT; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; LAMIN A; LAMIN C; LOOP DIURETIC AGENT; PREALBUMIN;

ATRIOVENTRICULAR BLOCK; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CONGESTIVE CARDIOMYOPATHY; DEFIBRILLATOR; EARLY DIAGNOSIS; ECHOCARDIOGRAPHY; ENVIRONMENTAL FACTOR; FAMILY HISTORY; GENE MUTATION; GENETIC DISORDER; GENETIC HETEROGENEITY; GENETIC PREDISPOSITION; GENETIC RISK; GENETIC SCREENING; HEART LEFT VENTRICLE FAILURE; HEART RIGHT VENTRICLE DYSPLASIA; HIGH RISK POPULATION; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; PEDIGREE ANALYSIS; PENETRANCE; PRIORITY JOURNAL; PROGNOSIS; RESTRICTIVE CARDIOMYOPATHY; REVIEW; SUDDEN DEATH; X CHROMOSOME LINKED DISORDER;

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA; CARDIOMYOPATHIES; GENETIC TESTING; HUMANS; MASS SCREENING; MOLECULAR DIAGNOSTIC TECHNIQUES; PENETRANCE;

EID: 77956515351     PISSN: 02722712     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cll.2010.07.003     Document Type: Review

References (38)

1. Ho C.Y., Seidman C.E. A contemporary approach to hypertrophic cardiomyopathy. Circulation 2006, 113:e858-e862.
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, 49:1251-1264.
3. Arad M., Maron B.J., Gorham J.M., et al. Glycogen storage diseases presenting as hypertrophic cardiomyopathy. N Engl J Med 2005, 352:362-372.
4. Richard P., Charron P., Carrier L., et al. Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation 2003, 107:2227-2232.
5. Ackerman M.J., VanDriest S.L., Ommen S.R., et al. Prevalence and age-dependence of malignant mutations in the beta-myosin heavy chain and troponin T genes in hypertrophic cardiomyopathy: a comprehensive outpatient perspective. J Am Coll Cardiol 2002, 39:2042-2048.
6. Maron B.J., Seidman J.G., Seidman C.E. Proposal for contemporary screening strategies in families with hypertrophic cardiomyopathy. J Am Coll Cardiol 2004, 44:2125-2132.
7. Elliott P.M., Sharma S., Varnava A., et al. Survival after cardiac arrest or sustained ventricular tachycardia in patients with hypertrophic cardiomyopathy. J Am Coll Cardiol 1999, 33:1596-1601.
8. Elliott P.M., Poloniecki J., Dickie S., et al. Sudden death in hypertrophic cardiomyopathy: identification of high risk patients. J Am Coll Cardiol 2000, 36:2212-2218.
9. Codd M.B., Sugrue D.D., Gersh B.J., et al. Epidemiology of idiopathic dilated and hypertrophic cardiomyopathy. A population-based study in Olmsted County, Minnesota, 1975-1984. Circulation 1989, 80:564-572.
10. Mestroni L., Maisch B., McKenna W.J., 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.
11. Taylor M.R., Slavov D., Ku L., et al. Prevalence of desmin mutations in dilated cardiomyopathy. Circulation 2007, 115:1244-1251.
12. Marshall J.D., Hinman E.G., Collin G.B., et al. Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alstrom syndrome. Hum Mutat 2007.
13. Arbustini E., Pilotto A., Repetto A., et al. Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease. J Am Coll Cardiol 2002, 39:981-990.
14. Meune C., Van Berlo J.H., Anselme F., et al. Primary prevention of sudden death in patients with lamin A/C gene mutations. N Engl J Med 2006, 354:209-210.
15. Mahon N.G., Murphy R.T., MacRae C.A., et al. Echocardiographic evaluation in asymptomatic relatives of patients with dilated cardiomyopathy reveals preclinical disease. Ann Intern Med 2005, 143:108-115.
16. Hunt S.A. ACC/AHA 2005 guideline update for the diagnosis and management of chronic heart failure in the adult: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Update the 2001 Guidelines for the Evaluation and Management of Heart Failure). J Am Coll Cardiol 2005, 46:e1-82.
17. van Tintelen J.P., Hofstra R.M., Wiesfeld A.C., et al. Molecular genetics of arrhythmogenic right ventricular cardiomyopathy: emerging horizon?. Curr Opin Cardiol 2007, 22:185-192.
18. Peters S., Trummel M., Meyners W. Prevalence of right ventricular dysplasia-cardiomyopathy in a non-referral hospital. Int J Cardiol 2004, 97:499-501.
19. Hamid M.S., Norman M., Quraishi A., et al. Prospective evaluation of relatives for familial arrhythmogenic right ventricular cardiomyopathy/dysplasia reveals a need to broaden diagnostic criteria. J Am Coll Cardiol 2002, 40:1445-1450.
20. Calkins H. Arrhythmogenic right-ventricular dysplasia/cardiomyopathy. Curr Opin Cardiol 2006, 21:55-63.
21. McKenna W.J., 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, 71:215-218.
22. Dalal D., James C., Devanagondi R., et al. Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy. J Am Coll Cardiol 2006, 48:1416-1424.
23. van Tintelen J.P., Entius M.M., Bhuiyan Z.A., et al. Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circulation 2006, 113:1650-1658.
24. Kies P., Bootsma M., Bax J.J., et al. Serial reevaluation for ARVD/C is indicated in patients presenting with left bundle branch block ventricular tachycardia and minor ECG abnormalities. J Cardiovasc Electrophysiol 2006, 17:586-593.
25. Wichter T., Breithardt G. Implantable cardioverter-defibrillator therapy in arrhythmogenic right ventricular cardiomyopathy: a role for genotyping in decision-making?. J Am Coll Cardiol 2005, 45:409-411.
26. Bauce B., Basso C., Rampazzo A., et al. Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations. Eur Heart J 2005, 26:1666-1675.
27. Dalal D., Molin L.H., Piccini J., et al. Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2. Circulation 2006, 113:1641-1649.
28. Syrris P., Ward D., Asimaki A., et al. Clinical expression of plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy. Circulation 2006, 113:356-364.
29. Nava A., Bauce B., Basso C., et al. Clinical profile and long-term follow-up of 37 families with arrhythmogenic right ventricular cardiomyopathy. J Am Coll Cardiol 2000, 36:2226-2233.
30. Frigo G., Bauce B., Basso C., et al. Late-onset arrhythmogenic right ventricular cardiomyopathy. J Cardiovasc Med (Hagerstown) 2006, 7:74-76.
31. Piccini J.P., Dalal D., Roguin A., et al. Predictors of appropriate implantable defibrillator therapies in patients with arrhythmogenic right ventricular dysplasia. Heart Rhythm 2005, 2:1188-1194.
32. Roguin A., Bomma C.S., Nasir K., et al. Implantable cardioverter-defibrillators in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy. J Am Coll Cardiol 2004, 43:1843-1852.
33. Lemola K., Brunckhorst C., Helfenstein U., et al. Predictors of adverse outcome in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy: long term experience of a tertiary care centre. Heart 2005, 91:1167-1172.
34. Fitzpatrick A.P., Shapiro L.M., Rickards A.F., et al. Familial restrictive cardiomyopathy with atrioventricular block and skeletal myopathy. Br Heart J 1990, 63:114-118.
35. Angelini A., Calzolari V., Thiene G., et al. Morphologic spectrum of primary restrictive cardiomyopathy. Am J Cardiol 1997, 80:1046-1050.
36. 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 2007, 49:2419-2426.
37. 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, 111:209-216.
38. Hughes S.E., McKenna W.J. New insights into the pathology of inherited cardiomyopathy. Heart 2005, 91:257-264.