title: Mimics of Hypertrophic Cardiomyopathy - Diagnostic Clues to Aid Early Identification of Phenocopies.
abstract: Hypertrophic cardiomyopathy (HCM) is the most common genetic cause of cardiomyopathy worldwide. Significant advances and widespread availability of genetic testing have improved detection of the sarcomeric mutations that cause HCM, but have also highlighted the significance of inborn errors of metabolism (IEM) or metabolic storage disorders that can mimic HCM ('HCM phenocopies'). These conditions cannot always be reliably differentiated on the basis of imaging alone. Whilst HCM phenocopies are relatively rare, it is crucial to distinguish these conditions at an early stage as their natural history, management and prognosis vary significantly from that of HCM with sarcomeric mutations. This review illustrates the salient features of HCM phenocopies and stresses the need for a high level of suspicion for these conditions in the assessment of cardiac hypertrophy.
authors.affiliation: Manchester Heart Centre, Institute of Cardiovascular Sciences, University of Manchester, Manchester, UK.
authors.forename: Rajiv
authors.initials: R
authors.lastname: Sankaranarayanan
authors.affiliation: University College London Medical School, London, UK.
authors.forename: Eleanor
authors.initials: E
authors.lastname: J Fleming
authors.affiliation: Manchester Heart Centre, Institute of Cardiovascular Sciences, University of Manchester, Manchester, UK.
authors.forename: Clifford
authors.initials: C
authors.lastname: J Garratt
keywords: Hypertrophic cardiomyopathy; genetic testing; metabolic storage disorders; phenocopies; sarcomeric mutations
references.citation: Am Heart J. 2009 Nov;158(5):799-805
references.pmid: 19853701
references.citation: Genet Med. 2011 Jun;13(6):563-8
references.pmid: 21415759
references.citation: Neurology. 1981 Jan;31(1):51-7
references.pmid: 6450334
references.citation: Eur J Intern Med. 2008 Jan;19(1):57-9
references.pmid: 18206603
references.citation: Heart. 2013 Oct;99(19):1451-61
references.pmid: 23468512
references.citation: Nat Rev Cardiol. 2011 Oct 25;9(2):91-100
references.pmid: 22027658
references.citation: Eur J Clin Invest. 2004 Mar;34(3):236-42
references.pmid: 15025684
references.citation: Circulation. 2004 Dec 21;110(25):3808-14
references.pmid: 15583080
references.citation: Neurology. 2002 Jun 25;58(12):1773-8
references.pmid: 12084876
references.citation: J Cardiovasc Electrophysiol. 2013 Sep;24(9):1051-3
references.pmid: 23577876
references.citation: Circ J. 2004 May;68(5):444-50
references.pmid: 15118286
references.citation: Heart. 2005 Nov;91(11):1380-2
references.pmid: 16230430
references.citation: Circulation. 2005 Sep 27;112(13):2047-60
references.pmid: 16186440
references.citation: Eur J Echocardiogr. 2009 Dec;10 (8):iii9-14
references.pmid: 19889657
references.citation: Circulation. 2008 Jan 15;117(2):144-54
references.pmid: 18158359
references.citation: Neuropediatrics. 2005 Feb;36(1):6-11
references.pmid: 15776317
references.citation: N Engl J Med. 2005 Jan 27;352(4):362-72
references.pmid: 15673802
references.citation: Circulation. 2009 Sep 29;120(13):e96-7
references.pmid: 19786638
references.citation: Circulation. 1995 Aug 15;92 (4):785-9
references.pmid: 7641357
references.citation: Eur Heart J. 1983 Dec;4(12):838-45
references.pmid: 6686523
references.citation: Circulation. 2003 Jun 10;107(22):2850-6
references.pmid: 12782567
references.citation: Hum Mol Genet. 2001 May 15;10(11):1215-20
references.pmid: 11371514
references.citation: JACC Cardiovasc Imaging. 2009 Dec;2(12 ):1369-77
references.pmid: 20083070
references.citation: Heart. 2004 Aug;90(8):842-6
references.pmid: 15253947
references.citation: Am J Cardiol. 2008 Mar 1;101(5):674-6
references.pmid: 18308019
references.citation: J Clin Ultrasound. 2013 Mar-Apr;41(3):151-7
references.pmid: 23192734
references.citation: J Clin Invest. 2002 Feb;109(3):357-62
references.pmid: 11827995
references.citation: J Am Heart Assoc. 2012 Apr;1(2):e000364
references.pmid: 23130126
references.citation: J Am Coll Cardiol. 2011 Dec 13;58(25):e212-60
references.pmid: 22075469
references.citation: Pediatr Cardiol. 2009 Nov;30(8):1176-9
references.pmid: 19787389
references.citation: JAMA. 2009 Mar 25;301(12):1253-9
references.pmid: 19318653
references.citation: JACC Cardiovasc Imaging. 2008 Nov;1(6):787-800
references.pmid: 19356516
references.citation: Heart. 2007 Apr;93(4):528-35
references.pmid: 17401074
references.citation: Circulation. 2010 Sep 14;122(11):1130-3
references.pmid: 20837938
references.citation: Echocardiography. 2007 Aug;24(7):677-84
references.pmid: 17651095
references.citation: Heart. 2012 Aug;98(16):1194-200
references.pmid: 22773610
references.citation: Circulation. 2002 Mar 26;105(12 ):1407-11
references.pmid: 11914245
references.citation: Cell. 1990 Sep 7;62(5):999-1006
references.pmid: 1975517