1,128
Views
6
CrossRef citations to date
0
Altmetric
Review Article

Current perspectives in hypertrophic cardiomyopathy with the focus on patients in the Finnish population: a review

, , &
Pages 496-508 | Received 24 Feb 2016, Accepted 04 May 2016, Published online: 27 Jul 2016

References

  • Elliott P, Andersson B, Arbustini E, Bilinska Z, Cecchi F, Charron P, 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.
  • Elliott PM, Anastasakis A, Borger MA, Borggrefe M, Cecchi F, Charron P, et al. 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). Eur Heart J. 2014;35:2733–79.
  • Sipola P, Magga J, Husso M, Jääskeläinen P, Peuhkurinen K, Kuusisto J. Cardiac MRI assessed left ventricular hypertrophy in differentiating hypertensive heart disease from hypertrophic cardiomyopathy attributable to a sarcomeric gene mutation. Eur Radiol. 2011;21:1383–9.
  • Ho CY, Charron P, Richard P, Girolami F, Van Spaendonck-Zwarts KY, Pinto Y. Genetic advances in sarcomeric cardiomyopathies: state of the art. Cardiovasc Res. 2015;105:397–408.
  • Maron BJ, Ommen SR, Semsarian C, Spirito P, Olivotto I, Maron MS. Hypertrophic cardiomyopathy: present and future, with translation into contemporary cardiovascular medicine. J Am Coll Cardiol. 2014;64:83–99. Erratum in: J Am Coll Cardiol. 2014;64:1188.
  • Lopes LR, Syrris P, Guttmann OP, O’Mahony C, Tang HC, Dalageorgou C, Jenkins S, et al. Novel genotype–phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015;101:294–301.
  • Jääskeläinen P, Kuusisto J, Miettinen R, Kärkkäinen P, Kärkkäinen S, Heikkinen S, et al. Mutations in the cardiac myosin-binding protein C gene are the predominant cause of familial hypertrophic cardiomyopathy in eastern Finland. J Mol Med (Berl). 2002;80:412–22.
  • Jääskeläinen P, Miettinen R, Kärkkäinen P, Toivonen L, Laakso M, Kuusisto J. Genetics of hypertrophic cardiomyopathy in eastern Finland: few founder mutations with benign or intermediary phenotypes. Ann Med. 2004;36:23–32.
  • Jääskeläinen P, Heliö T, Aalto-Setälä K, Kaartinen M, Ilveskoski E, Hämäläinen L, et al. Two founder mutations in the alpha-tropomyosin and the cardiac myosin-binding protein C genes are common causes of hypertrophic cardiomyopathy in the Finnish population. Ann Med. 2013;45:85–90.
  • Carrier L, Mearini G, Stathopoulou K, Cuello F. Cardiac myosin-binding protein C (MYBPC3) in cardiac pathophysiology. Gene. 2015;573:188–97.
  • Jääskeläinen P, Heliö T, Aalto-Setälä K, Kaartinen M, Ilveskoski E, Hämäläinen L, et al. A new common mutation in the cardiac beta-myosin heavy chain gene in Finnish patients with hypertrophic cardiomyopathy. Ann Med. 2014;46:424–9.
  • Kärkkäinen S, Heliö T, Jääskeläinen P, Miettinen R, Tuomainen P, Ylitalo K, et al. Two novel mutations in the beta-myosin heavy chain gene associated with dilated cardiomyopathy. Eur J Heart Fail. 2004;6:861–8.
  • Jääskeläinen P, Soranta M, Miettinen R, Saarinen L, Pihlajamäki J, Silvennoinen K, et al. The cardiac beta-myosin heavy chain gene is not the predominant gene for hypertrophic cardiomyopathy in the Finnish population. J Am Coll Cardiol. 1998;32:1709–16.
  • Jääskeläinen P, Miettinen R, Silvennoinen K, Vauhkonen I, Laakso M, Kuusisto J. The cardiac troponin I gene is not associated with hypertrophic cardiomyopathy in patients from eastern Finland. J Mol Cell Cardiol. 1999;31:2031–6.
  • Kärkkäinen S, Peuhkurinen K, Jääskeläinen P, Miettinen R, Kärkkäinen P, Kuusisto J, Laakso M. No variants in the cardiac actin gene in Finnish patients with dilated or hypertrophic cardiomyopathy. Am Heart J. 2002;143:E6.
  • Elliott P, McKenna WJ. Hypertrophic cardiomyopathy. Lancet. 2004;363:1881–91.
  • Nagueh SF, Bachinski LL, Meyer D, Hill R, Zoghbi WA, Tam JW, et al. Tissue Doppler imaging consistently detects myocardial abnormalities in patients with hypertrophic cardiomyopathy and provides a novel means for an early diagnosis before and independently of hypertrophy. Circulation. 2001;104:128–30.
  • Poutanen T, Tikanoja T, Jääskeläinen P, Jokinen E, Silvast A, Laakso M, Kuusisto J. Diastolic dysfunction without left ventricular hypertrophy is an early finding in children with hypertrophic cardiomyopathy-causing mutations in the beta-myosin heavy chain, alpha-tropomyosin, and myosin-binding protein C genes. Am Heart J. 2006;151:725.e1–e9.
  • Gandjbakhch E, Gackowski A, Tezenas du Montcel S, Isnard R, Hamroun A, Richard P, et al. Early identification of mutation carriers in familial hypertrophic cardiomyopathy by combined echocardiography and tissue Doppler imaging. Eur Heart J. 2010;31:1599–607.
  • De S, Borowski AG, Wang H, Nye L, Xin B, Thomas JD, et al. Subclinical echocardiographic abnormalities in phenotype-negative carriers of myosin-binding protein C3 gene mutation for hypertrophic cardiomyopathy. Am Heart J. 2011;162:262–3.
  • Yiu KH, Atsma DE, Delgado V, Ng ACT, Witkowski TG, Ewe SH, et al. Myocardial Structural alteration and systolic dysfunction in preclinical hypertrophic cardiomyopathy mutation carriers. PLoS One. 2012;7:e36115.
  • Sipola P, Lauerma K, Jääskeläinen P, Laakso M, Peuhkurinen K, Manninen H, et al. Cine MR imaging of myocardial contractile impairment in patients with hypertrophic cardiomyopathy attributable to Asp175Asn mutation in the alpha-tropomyosin gene. Radiology. 2005;236:815–24.
  • Sipola P, Lauerma K, Husso-Saastamoinen M, Kuikka JT, Vanninen E, Laitinen T, et al. First-pass MR imaging in the assessment of perfusion impairment in patients with hypertrophic cardiomyopathy and the Asp175Asn mutation of the alpha-tropomyosin gene. Radiology. 2003;226:129–37.
  • Kuusisto J, Kärjä V, Sipola P, Kholová I, Peuhkurinen K, Jääskeläinen P, et al. Low-grade inflammation and the phenotypic expression of myocardial fibrosis in hypertrophic cardiomyopathy. Heart. 2012;98:1007–13.
  • Basso C, Thiene G, Corrado D, Buja G, Melacini P, Nava A. Hypertrophic cardiomyopathy and sudden death in the young: pathologic evidence of myocardial ischemia. Hum Pathol. 2000;31:988–98.
  • Tardiff JC, Carrier L, Bers DM, Poggesi C, Ferrantini C, Coppini R, et al. Targets for therapy in sarcomeric cardiomyopathies. Cardiovasc Res. 2015;105:457–70.
  • Lopes LR, Elliott PM. A straightforward guide to the sarcomeric basis of cardiomyopathies. Heart. 2014;100:1916–23.
  • Kimura A. Molecular genetics and pathogenesis of cardiomyopathy. J Hum Genet. 2016;61:41–50.
  • Tuunanen H, Kuusisto J, Toikka J, Jääskeläinen P, Marjamäki P, Peuhkurinen K, et al. Myocardial perfusion, oxidative metabolism, and free fatty acid uptake in patients with hypertrophic cardiomyopathy attributable to the Asp175Asn mutation in the alpha-tropomyosin gene: a positron emission tomography study. J Nucl Cardiol. 2007;14:354–65.
  • Sipola P, Vanninen E, Aronen HJ, Lauerma K, Simula S, Jääskeläinen P, et al. Cardiac adrenergic activity is associated with left ventricular hypertrophy in genetically homogeneous subjects with hypertrophic cardiomyopathy. J Nucl Med. 2003;44:487–93.
  • Lim DS, Lutucuta S, Bachireddy P, Youker K, Evans A, Entman M, et al. Angiotensin II blockade reverses myocardial fibrosis in a transgenic mouse model of human hypertrophic cardiomyopathy. Circulation. 2001;103:789–91.
  • Westermann D, Knollmann BC, Steendijk P, Rutschow S, Riad A, Pauschinger M, et al. Diltiazem treatment prevents diastolic heart failure in mice with familial hypertrophic cardiomyopathy. Eur J Heart Fail. 2006;8:115–21.
  • Ho CY, Lakdawala NK, Cirino AL, Lipshultz SE, Sparks E, Abbasi SA, et al. Diltiazem treatment for pre-clinical hypertrophic cardiomyopathy sarcomere mutation carriers: a pilot randomized trial to modify disease expression. JACC Heart Fail. 2015;3:180–8.
  • Patel R, Nagueh SF, Tsybouleva N, Abdellatif M, Lutucuta S, Kopelen HA, et al. Simvastatin induces regression of cardiac hypertrophy and fibrosis and improves cardiac function in a transgenic rabbit model of human hypertrophic cardiomyopathy. Circulation. 2001;104:317–24.
  • Axelsson A, Iversen K, Vejlstrup N, Ho CY, Norsk J, Langhoff L, et al. Efficacy and safety of the angiotensin II receptor blocker losartan for hypertrophic cardiomyopathy: the INHERIT randomised, double-blind, placebo-controlled trial. Lancet Diabetes Endocrinol. 2015;3:123–31.
  • Hedman A, Hartikainen J, Vanninen E, Laitinen T, Jääskeläinen P, Laakso M, et al. Inducibility of life-threatening ventricular arrhythmias is related to maximum left ventricular thickness and clinical markers of sudden cardiac death in patients with hypertrophic cardiomyopathy attributable to the Asp175Asn mutation in the alpha-tropomyosin gene. J Mol Cell Cardiol. 2004;36:91–9. Erratum in: J Mol Cell Cardiol. 2004;36:607–8.
  • Ullal AJ, Abdelfattah RS, Ashley EA, Froelicher VF. Hypertrophic cardiomyopathy as a cause of sudden cardiac death in the young: a meta-analysis. Am J Med. 2016;129:486–96.e2.
  • Coats CJ, Gallagher MJ, Foley M, O'Mahony C, Critoph C, Gimeno J, et al. Relation between serum N-terminal pro-brain natriuretic peptide and prognosis in patients with hypertrophic cardiomyopathy. Eur Heart J. 2013;34:2529–37.
  • Magga J, Sipola P, Vuolteenaho O, Risteli J, Jääskeläinen P, Peuhkurinen K, Kuusisto J. Significance of plasma levels of N-terminal Pro-B-type natriuretic peptide on left ventricular remodeling in non-obstructive hypertrophic cardiomyopathy attributable to the Asp175Asn mutation in the alpha-tropomyosin gene. Am J Cardiol. 2008;101:1185–90.
  • Sorajja P, Ommen SR, Nishimura RA, Gersh BJ, Berger PB, Tajik AJ. Adverse prognosis of patients with hypertrophic cardiomyopathy who have epicardial coronary artery disease. Circulation. 2003;108:2342–8.
  • Tanawuttiwat T, Nazarian S, Calkins H. The role of catheter ablation in the management of ventricular tachycardia. Eur Heart J. 2016;37:594–609.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.