Developmental origins of hypertrophic cardiomyopathy phenotypes: A unifying hypothesis

Nature Reviews Cardiology

Volumn 6, Issue 4, 2009, Pages 317-321

  Olivotto, Iacopo ^b   Cecchi, Franco ^b   Poggesi, Corrado ^c   Yacoub, Magdi H ^a,b  

^a HAREFIELD HOSPITAL   (United Kingdom)

^b CAREGGI UNIVERSITY HOSPITAL   (Italy)

^c UNIVERSITY OF FLORENCE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CELL DIFFERENTIATION; CELL LINEAGE; DEVELOPMENTAL BIOLOGY; EPICARDIUM; GENE EXPRESSION; GENE MUTATION; HEART HYPERTROPHY; HEART MUSCLE CELL; HEART MUSCLE FIBROSIS; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MECHANOTRANSDUCTION; MICROANGIOPATHY; MITRAL VALVE DISEASE; MOLECULAR MECHANICS; NONHUMAN; NOTE; PHENOTYPE; PRIORITY JOURNAL; RISK FACTOR; SARCOMERE; ARTICLE; EMBRYONIC STEM CELL; EXTRACELLULAR MATRIX; GENE EXPRESSION REGULATION; GENETICS; GENOTYPE; HEART CONTRACTION; METABOLISM; PATHOLOGY; PERICARDIUM; PLURIPOTENT STEM CELL; PRENATAL DEVELOPMENT;

CARDIOMYOPATHY, HYPERTROPHIC; CELL DIFFERENTIATION; CELL LINEAGE; EMBRYONIC STEM CELLS; EXTRACELLULAR MATRIX; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENOTYPE; HUMANS; MECHANOTRANSDUCTION, CELLULAR; MYOCARDIAL CONTRACTION; MYOCYTES, CARDIAC; PERICARDIUM; PHENOTYPE; PLURIPOTENT STEM CELLS;

EID: 67649648025     PISSN: 17595002     EISSN: 17595010     Source Type: Journal    
DOI: 10.1038/nrcardio.2009.9     Document Type: Note

References (34)

1. Maron, B. J. Hypertrophic cardiomyopathy: a systematic review. JAMA 287, 1308-1320 (2002).
2. Yacoub, M. H., Olivotto, i. & cecchi, F. 'endstage' hypertrophic cardiomyopathy: from mystery to model. Nat. Clin. Pract. Cardiovasc. Med. 4, 232-233 (2007). (Pubitemid 46672106)
3. 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. 49, 1251-1264 (2007).
4. Ho, c. Y. & seidman, c. e. A contemporary approach to hypertrophic cardiomyopathy. Circulation 113, e858-e862 (2006).
5. Olivotto, i. et al. Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy. Mayo Clin. Proc. 83, 630-638 (2008).
6. richard, p. et al. Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation 107, 2227-2232 (2003).
7. Basso, c. et al. Hypertrophic cardiomyopathy and sudden death in the young: pathologic evidence of myocardial ischemia. Hum. Pathol. 31, 988-998 (2000).
8. Harrigan, c. J. et al. significance of papillary muscle abnormalities identified by cardiovascular magnetic resonance in hypertrophic cardiomyopathy. Am. J. Cardiol. 101, 668-673 (2008).
9. Klues, H. G., Maron, B. J., Dollar, A. L. & roberts, W. c. Diversity of structural mitral valve alterations in hypertrophic cardiomyopathy. Circulation 85, 1651-1660 (1992).
10. Markwald, r. r. & Butcher, J. t. The next frontier in cardiovascular developmental biology-an integrated approach to adult disease? Nat. Clin. Pract. Cardiovasc. Med. 4, 60-61 (2007).
11. Olivotto, i. et al. Assessment and significance of left ventricular mass by cardiovascular magnetic resonance in hypertrophic cardiomyopathy. J. Am. Coll. Cardiol. 52, 559-566 (2008).
12. phadke, r. s., vaideeswar, p., Mittal, B. & Deshpande, J. Hypertrophic cardiomyopathy: an autopsy analysis of 14 cases. J. Postgrad. Med. 47, 165-170 (2001).
13. Adabag, A. s. et al. Occurrence and frequency of arrhythmias in hypertrophic cardiomyopathy in relation to delayed enhancement on cardiovascular magnetic resonance. J. Am. Coll. Cardiol. 51, 1369-1374 (2008).
14. cecchi, F. et al. coronary microvascular dysfunction and prognosis in hypertrophic cardiomyopathy. N. Engl. J. Med. 349, 1027-1035 (2003).
15. Yacoub, M., Onuzo, O., riedel, B. & radleysmith, r. Mobilization of the left and right fibrous trigones for relief of severe left ventricular outflow obstruction. J. Thorac. Cardiovasc. Surg. 117, 126-132 (1999).
16. Monserrat, L. et al. Mutation in the alphacardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. Eur. Heart J. 28, 1953-1961 (2007).
17. Olivotto, i. et al. impact of atrial fibrillation on the clinical course of hypertrophic cardiomyopathy. Circulation 104, 2517-2524 (2001).
18. schäfers, M. et al. Myocardial presynaptic and postsynaptic autonomic dysfunction in hypertrophic cardiomyopathy. Circ. Res. 82, 57-62 (1998).
19. Lie-venema, H. et al. Origin, fate, and function of epicardium-derived cells (epDcs) in normal and abnormal cardiac development. ScientificWorldJournal 7, 1777-1798 (2007).
20. eisenberg, L. M. & Markwald, r. r. cellular recruitment and the development of the myocardium. Dev. Biol. 274, 225-232 (2004).
21. cai, c. L. et al. isl1 identifies a cardiac progenitor population that proliferates prior to differentiation and contributes a majority of cells to the heart. Dev. Cell. 5, 877-889 (2003).
22. Franco, D. et al. Left and right ventricular contributions to the formation of the interventricular septum in the mouse heart. Dev. Biol. 294, 366-375 (2006).
23. Lie-venema, H. et al. periostin expression by epicardium-derived cells is involved in the development of the atrioventricular valves and fibrous heart skeleton. Differentiation 76, 809-819 (2008).
24. perez-pomares, J. M. et al. experimental studies on the spatiotemporal expression of Wt1 and rALDH2 in the embryonic avian heart: a model for the regulation of myocardial and valvuloseptal development by epicardially derived cells (epDcs). Dev. Biol. 247, 307-326 (2002).
25. Dosdall, D. J. et al. chemical ablation of the purkinje system causes early termination and activation rate slowing of long-duration ventricular fibrillation in dogs. Am. J. Physiol. Heart Circ. Physiol. 295, H883-H889 (2008).
26. engler, A. J., sen, s., sweeney, H. L. & Discher, D. e. Matrix elasticity directs stem cell lineage specification. Cell 126, 677-689 (2006).
27. Dahl, K. N., ribeiro, A. J. & Lammerding, J. Nuclear shape, mechanics and mechanotransduction. Circ. Res. 102, 1307-1318 (2008).
28. Belus, A. et al. The familial hypertrophic cardiomyopathy-associated myosin mutation r403Q accelerates tension generation and relaxation of human cardiac myofibrils. J. Physiol. 586, 3639-3644 (2008).
29. Douglas, Y. L. et al. pulmonary vein, dorsal atrial wall and atrial septum abnormalities in podoplanin knockout mice with disturbed posterior heart field contribution. Pediatr. Res. (in press).
30. Mahtab, e. A. et al. cardiac malformations and myocardial abnormalities in podoplanin knockout mouse embryos: correlation with abnormal epicardial development. Dev. Dyn. 237, 847-857 (2008).
31. cai, c. L. et al. A myocardial lineage derives from Tbx18 epicardial cells. Nature 454, 104-108 (2008).
32. Zhou, B. et al. epicardial progenitors contribute to the cardiomyocyte lineage in the developing heart. Nature 454, 109-113 (2008).
33. Klaassen, s. et al. Mutations in sarcomere protein genes in left ventricular noncompaction. Circulation 117, 2893-2901 (2008).
34. peng, X. et al. cardiac developmental defects and eccentric right ventricular hypertrophy in cardiomyocyte focal adhesion kinase (FAK) conditional knockout mice. Proc. Natl Acad. Sci. USA 105, 6638-6643 (2008).