Genetic basis of hypertrophic cardiomyopathy

References

• Teare D. Asymmetrical hypertrophy of the heart in young adults. Br. Heart J.20(1), 1–8 (1958).
   PubMedGoogle Scholar
• Maron BJ, Gardin JM, Flack JM et al. Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary Artery Risk Development in (Young) Adults. Circulation92(4), 785–789 (1995).
   PubMed Web of Science ®Google Scholar
• Spirito P, Seidman CE, McKenna WJ, Maron BJ. The management of hypertrophic cardiomyopathy. N. Engl. J. Med.336(11), 775–785 (1997).
   PubMed Web of Science ®Google Scholar
• Kofflard MJ, Ten Cate FJ, van der Lee C, van Domburg RT. Hypertrophic cardiomyopathy in a large community-based population: clinical outcome and identification of risk factors for sudden cardiac death and clinical deterioration. J. Am. Coll. Cardiol.41(6), 987–993 (2003).
   PubMed Web of Science ®Google Scholar
• Wolf CM, Moskowitz IP, Arno S et al. Somatic events modify hypertrophic cardiomyopathy pathology and link hypertrophy to arrhythmia. Proc. Natl Acad. Sci. USA102(50), 18123–18128 (2005).
   PubMedGoogle Scholar
• Jayatilleke I, Doolan A, Ingles J et al. Long-term follow-up of implantable cardioverter defibrillator therapy for hypertrophic cardiomyopathy. Am. J. Cardiol.93(9), 1192–1194 (2004).
   PubMedGoogle Scholar
• Roberts R, Sigwart U. Current concepts of the pathogenesis and treatment of hypertrophic cardiomyopathy. Circulation112(2), 293–296 (2005).
   PubMedGoogle Scholar
• Jarcho JA, McKenna W, Pare JA et al. Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1. N. Engl. J. Med.321(20), 1372–1378 (1989).
   PubMed Web of Science ®Google Scholar
• Geisterfer-Lowrance AA, Kass S, Tanigawa G et al. A molecular basis for familial hypertrophic cardiomyopathy: a b cardiac myosin heavy chain gene missense mutation. Cell62(5), 999–1006 (1990).
   PubMed Web of Science ®Google Scholar
• Solomon SD, Jarcho JA, McKenna W et al. Familial hypertrophic cardiomyopathy is a genetically heterogeneous disease. J. Clin. Invest.86(3), 993–999 (1990).
   PubMedGoogle Scholar
• Watkins H, MacRae C, Thierfelder L et al. A disease locus for familial hypertrophic cardiomyopathy maps to chromosome 1q3. Nat. Genet.3(4), 333–337 (1993).
   PubMed Web of Science ®Google Scholar
• Thierfelder L, MacRae C, Watkins H et al. A familial hypertrophic cardiomyopathy locus maps to chromosome 15q2. Proc. Natl Acad. Sci. USA90(13), 6270–6274 (1993).
   PubMed Web of Science ®Google Scholar
• Watkins H, Conner D, Thierfelder L et al. Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy. Nat. Genet.11(4), 434–437 (1995).
   PubMed Web of Science ®Google Scholar
• Poetter K, Jiang H, Hassanzadeh S et al. Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle. Nat. Genet.13(1), 63–69 (1996).
   PubMed Web of Science ®Google Scholar
• Kimura A, Harada H, Park JE et al. Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. Nat. Genet.16(4), 379–382 (1997).
   PubMed Web of Science ®Google Scholar
• Hoffmann B, Schmidt-Traub H, Perrot A, Osterziel KJ, Gessner R. First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy. Hum. Mutat.17(6), 524 (2001).
   PubMedGoogle Scholar
• Hayashi T, Arimura T, Itoh-Satoh M et al. Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy. J. Am. Coll. Cardiol.44(11), 2192–2201 (2004).
   PubMed Web of Science ®Google Scholar
• Geier C, Perrot A, Ozcelik C et al. Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy. Circulation107(10), 1390–1395 (2003).
   PubMed Web of Science ®Google Scholar
• Satoh M, Takahashi M, Sakamoto T et al. Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene. Biochem. Biophys. Res. Commun.262(2), 411–417 (1999).
   PubMed Web of Science ®Google Scholar
• Anan R, Greve G, Thierfelder L et al. Prognostic implications of novel β cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy. J. Clin. Invest.93(1), 280–285 (1994).
   PubMed Web of Science ®Google Scholar
• Gautel M, Zuffardi O, Freiburg A, Labeit S. Phosphorylation switches specific for the cardiac isoform of myosin binding protein-C: a modulator of cardiac contraction? EMBO J.14(9), 1952–1960 (1995).
   PubMed Web of Science ®Google Scholar
• Parmacek MS, Solaro RJ. Biology of the troponin complex in cardiac myocytes. Prog. Cardiovasc. Dis.47(3), 159–176 (2004).
   PubMed Web of Science ®Google Scholar
• Moolman JC, Corfield VA, Posen B et al. Sudden death due to troponin T mutations. J. Am. Coll. Cardiol.29(3), 549–555 (1997).
   PubMed Web of Science ®Google Scholar
• Doolan A, Tebo M, Ingles J et al. Cardiac troponin I mutations in Australian families with hypertrophic cardiomyopathy: clinical, genetic and functional consequences. J. Mol. Cell. Cardiol.38(2), 387–393 (2005).
   PubMedGoogle Scholar
• Kokado H, Shimizu M, Yoshio H et al. Clinical features of hypertrophic cardiomyopathy caused by a Lys183 deletion mutation in the cardiac troponin I gene. Circulation102(6), 663–669 (2000).
   PubMedGoogle Scholar
• Crilley JG, Boehm EA, Blair E et al. Hypertrophic cardiomyopathy due to sarcomeric gene mutations is characterized by impaired energy metabolism irrespective of the degree of hypertrophy. J. Am. Coll. Cardiol.41(10), 1776–1782 (2003).
   PubMed Web of Science ®Google Scholar
• Somura F, Izawa H, Iwase M et al. Reduced myocardial sarcoplasmic reticulum Ca(2+)-ATPase mRNA expression and biphasic force-frequency relations in patients with hypertrophic cardiomyopathy. Circulation104(6), 658–663 (2001).
   PubMedGoogle Scholar
• Hasegawa K, Fujiwara H, Koshiji M et al. Endothelin-1 and its receptor in hypertrophic cardiomyopathy. Hypertension27(2), 259–264 (1996).
   PubMed Web of Science ®Google Scholar
• Li RK, Li G, Mickle DA et al. Overexpression of transforming growth factor-β1 and insulin-like growth factor-I in patients with idiopathic hypertrophic cardiomyopathy. Circulation96(3), 874–881 (1997).
   PubMed Web of Science ®Google Scholar
• Hayashi T, Arimura T, Ueda K et al. Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy. Biochem. Biophys. Res. Commun.313(1), 178–184 (2004).
   PubMed Web of Science ®Google Scholar
• Haghighi K, Kolokathis F, Gramolini AO et al. A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. Proc. Natl Acad. Sci. USA103(5), 1388–1393 (2006).
   PubMed Web of Science ®Google Scholar
• Haghighi K, Kolokathis F, Pater L et al. Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human. J. Clin. Invest.111(6), 869–876 (2003).
   PubMed Web of Science ®Google Scholar
• Schmitt JP, Kamisago M, Asahi M et al. Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban. Science299(5611), 1410–1413 (2003).
   PubMed Web of Science ®Google Scholar
• Minamisawa S, Sato Y, Tatsuguchi Y et al. Mutation of the phospholamban promoter associated with hypertrophic cardiomyopathy. Biochem. Biophys. Res. Commun.304(1), 1–4 (2003).
   PubMed Web of Science ®Google Scholar
• Gollob MH, Green MS, Tang AS et al. Identification of a gene responsible for familial Wolff-Parkinson-White syndrome. N. Engl. J. Med.344(24), 1823–1831 (2001).
   PubMed Web of Science ®Google Scholar
• Arad M, Maron BJ, Gorham JM et al. Glycogen storage diseases presenting as hypertrophic cardiomyopathy. N. Engl. J. Med.352(4), 362–372 (2005).
   PubMed Web of Science ®Google Scholar
• Blair E, Redwood C, Ashrafian H et al. Mutations in the γ(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis. Hum. Mol. Genet.10(11), 1215–1220 (2001).
   PubMed Web of Science ®Google Scholar
• Chimenti C, Pieroni M, Morgante E et al. Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy. Circulation110(9), 1047–1053 (2004).
   PubMed Web of Science ®Google Scholar
• Yang Z, McMahon CJ, Smith LR et al. Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children. Circulation112(11), 1612–1617 (2005).
   PubMed Web of Science ®Google Scholar
• Murphy RT, Thaman R, Blanes JG et al. Natural history and familial characteristics of isolated left ventricular non-compaction. Eur. Heart J.26(2), 187–192 (2005).
   PubMed Web of Science ®Google Scholar
• Chin TK, Perloff JK, Williams RG, Jue K, Mohrmann R. Isolated noncompaction of left ventricular myocardium. A study of eight cases. Circulation82(2), 507–513 (1990).
   PubMed Web of Science ®Google Scholar
• Van Driest SL, Ommen SR, Tajik AJ, Gersh BJ, Ackerman MJ. Yield of genetic testing in hypertrophic cardiomyopathy. Mayo Clin. Proc.80(6), 739–744 (2005).
   PubMed Web of Science ®Google Scholar
• Richard P, Charron P, Carrier L et al. Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation107(17), 2227–2232 (2003).
   PubMed Web of Science ®Google Scholar
• Van Driest SL, Vasile VC, Ommen SR et al. Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. J. Am. Coll. Cardiol.44(9), 1903–1910 (2004).
   PubMed Web of Science ®Google Scholar
• Ingles J, Doolan A, Chiu C et al. Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. J. Med. Genet.42(10), E59 (2005).
   PubMedGoogle Scholar
• Semsarian C, Ahmad I, Giewat M et al. The L-type calcium channel inhibitor diltiazem prevents cardiomyopathy in a mouse model. J. Clin. Invest.109(8), 1013–1020 (2002).
   PubMed Web of Science ®Google Scholar
• Tiso N, Stephan DA, Nava A et al. Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Hum. Mol. Genet.10(3), 189–194 (2001).
   PubMed Web of Science ®Google Scholar
• Priori SG, Napolitano C, Tiso N et al. Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. Circulation103(2), 196–200 (2001).
   PubMed Web of Science ®Google Scholar
• Lahat H, Pras E, Olender T et al. A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel. Am. J. Hum. Genet.69(6), 1378–1384 (2001).
   PubMed Web of Science ®Google Scholar
• Semsarian C, Healey MJ, Fatkin D et al. A polymorphic modifier gene alters the hypertrophic response in a murine model of familial hypertrophic cardiomyopathy. J. Mol. Cell. Cardiol.33(11), 2055–2060 (2001).
   PubMed Web of Science ®Google Scholar
• Doolan G, Nguyen L, Chung J, Ingles J, Semsarian C. Progression of left ventricular hypertrophy and the angiotensin-converting enzyme gene polymorphism in hypertrophic cardiomyopathy. Int. J. Cardiol.96(2), 157–163 (2004).
   PubMed Web of Science ®Google Scholar
• Osterop AP, Kofflard MJ, Sandkuijl LA et al. AT1 receptor A/C1166 polymorphism contributes to cardiac hypertrophy in subjects with hypertrophic cardiomyopathy. Hypertension32(5), 825–830 (1998).
   PubMed Web of Science ®Google Scholar
• Deinum J, van Gool JM, Kofflard MJ, ten Cate FJ, Danser AH. Angiotensin II type 2 receptors and cardiac hypertrophy in women with hypertrophic cardiomyopathy. Hypertension38(6), 1278–1281 (2001).
   PubMedGoogle Scholar
• Patel R, Lim DS, Reddy D et al. Variants of trophic factors and expression of cardiac hypertrophy in patients with hypertrophic cardiomyopathy. J. Mol. Cell. Cardiol.32(12), 2369–2377 (2000).
   PubMedGoogle Scholar
• Maron BJ, Shen WK, Link MS et al. Efficacy of implantable cardioverter-defibrillators for the prevention of sudden death in patients with hypertrophic cardiomyopathy. N. Engl. J. Med.342(6), 365–373 (2000).
   PubMed Web of Science ®Google Scholar
• Lim DS, Lutucuta S, Bachireddy P et al. Angiotensin II blockade reverses myocardial fibrosis in a transgenic mouse model of human hypertrophic cardiomyopathy. Circulation103(6), 789–791 (2001).
   PubMed Web of Science ®Google Scholar
• Senthil V, Chen SN, Tsybouleva N et al. Prevention of cardiac hypertrophy by atorvastatin in a transgenic rabbit model of human hypertrophic cardiomyopathy. Circ. Res.97(3), 285–292 (2005).
   PubMed Web of Science ®Google Scholar
• Tsybouleva N, Zhang L, Chen S et al. Aldosterone, through novel signaling proteins, is a fundamental molecular bridge between the genetic defect and the cardiac phenotype of hypertrophic cardiomyopathy. Circulation109(10), 1284–1291 (2004).
   PubMed Web of Science ®Google Scholar
• Van Driest SL, Ackerman MJ, Ommen SR et al. Prevalence and severity of ‘benign’ mutations in the β-myosin heavy chain, cardiac troponin T, and α-tropomyosin genes in hypertrophic cardiomyopathy. Circulation106(24), 3085–3090 (2002).
   PubMed Web of Science ®Google Scholar
• Van Driest SL, Ellsworth EG, Ommen SR et al. Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy. Circulation108(4), 445–451 (2003).
   PubMedGoogle Scholar
• Van Driest SL, Jaeger MA, Ommen SR et al. Comprehensive analysis of the β-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. J. Am. Coll. Cardiol.44(3), 602–610 (2004).
   PubMed Web of Science ®Google Scholar
• Ackerman MJ, VanDriest SL, Ommen SR et al. Prevalence and age-dependence of malignant mutations in the β-myosin heavy chain and troponin T genes in hypertrophic cardiomyopathy: a comprehensive outpatient perspective. J. Am. Coll. Cardiol.39(12), 2042–2048 (2002).
   PubMed Web of Science ®Google Scholar
• Erdmann J, Daehmlow S, Wischke S et al. Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. Clin. Genet.64(4), 339–349 (2003).
   PubMed Web of Science ®Google Scholar
• Morner S, Richard P, Kazzam E et al. Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden. J. Mol. Cell. Cardiol.35(7), 841–849 (2003).
   PubMedGoogle Scholar
• Jaaskelainen P, Soranta M, Miettinen R et al. The cardiac β-myosin heavy chain gene is not the predominant gene for hypertrophic cardiomyopathy in the Finnish population. J. Am. Coll. Cardiol.32(6), 1709–1716 (1998).
   PubMed Web of Science ®Google Scholar
• Jaaskelainen P, Miettinen R, Silvennoinen K et al. The cardiac troponin I gene is not associated with hypertrophic cardiomyopathy in patients from eastern Finland. J. Mol. Cell. Cardiol.31(11), 2031–2036 (1999).
   PubMed Web of Science ®Google Scholar
• Jaaskelainen P, Kuusisto J, Miettinen R 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.80(7), 412–422 (2002).
   PubMed Web of Science ®Google Scholar
• Karkkainen S, Peuhkurinen K, Jaaskelainen P et al. No variants in the cardiac actin gene in Finnish patients with dilated or hypertrophic cardiomyopathy. Am. Heart J.143(6), E6 (2002).
   PubMedGoogle Scholar
• Garcia-Castro M, Reguero JR, Batalla A et al. Hypertrophic cardiomyopathy: low frequency of mutations in the β-myosin heavy chain (MYH7) and cardiac troponin T (TNNT2) genes among Spanish patients. Clin. Chem.49(8), 1279–1285 (2003).
   PubMedGoogle Scholar
• Seidman JG, Seidman CE. The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms. Cell104(4), 557–567 (2001).
   PubMed Web of Science ®Google Scholar