The hereditary cardiac disease constitute cardiac diseases in which the genetic background plays a role in pathogenesis. The spectrum of genetic causes spans from monogenic (Mendelian) disorders to genetic risk factor which in epidemiological studies have show to be associated with diseases.
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Abe K et al. (1993) Dominantly inherited cytoplasmic body myopathy in a Japanese kindred. |
2. |
Melberg A et al. (1999) Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q. |
3. |
Saavedra-Matiz CA et al. () Linkage of hereditary distal myopathy with desmin accumulation to 2q. |
4. |
Sjöberg G et al. (1999) A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation. |
5. |
Muñoz-Mármol AM et al. (1998) A dysfunctional desmin mutation in a patient with severe generalized myopathy. |
6. |
Goldfarb LG et al. (1998) Missense mutations in desmin associated with familial cardiac and skeletal myopathy. |
7. |
Barohn RJ et al. (1998) Overview of distal myopathies: from the clinical to the molecular. |
8. |
Messina DN et al. (1997) Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23. |
9. |
Vajsar J et al. (1993) Familial desminopathy: myopathy with accumulation of desmin-type intermediate filaments. |
10. |
Park KY et al. (2000) Desmin splice variants causing cardiac and skeletal myopathy. |
11. |
Horowitz SH et al. (1994) Autosomal dominant distal myopathy with desmin storage: a clinicopathologic and electrophysiologic study of a large kinship. |
12. |
Ariza A et al. (1995) Desmin myopathy: a multisystem disorder involving skeletal, cardiac, and smooth muscle. |
13. |
None (1995) Desmin-related neuromuscular disorders. |
14. |
Porte A et al. (1980) Unusual familial cardiomyopathy with storage of intermediate filaments in the cardiac muscular cells. |
15. |
Edström L et al. (1980) A new type of hereditary distal myopathy with characteristic sarcoplasmic bodies and intermediate (skeletin) filaments. |
16. |
Chapon F et al. (1989) [Familial myopathy with "cytoplasmic body" (or "spheroid") type inclusions, disclosed by respiratory insufficiency]. |
17. |
None (1993) Response. |
18. |
Pica EC et al. (2008) Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family. |
19. |
Brodehl A et al. (2013) The novel desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac death. |
20. |
Hedberg C et al. (2012) Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation. |
21. |
Greenberg SA et al. (2012) Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics. |
22. |
van Spaendonck-Zwarts KY et al. (2011) Desmin-related myopathy. |
23. |
Otten E et al. (2010) Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks. |
24. |
van Tintelen JP et al. (2009) Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene. |
25. |
Piñol-Ripoll G et al. (2009) Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin. |
26. |
Kuhl A et al. (2008) Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3. |
27. |
Meune C et al. (2006) Primary prevention of sudden death in patients with lamin A/C gene mutations. |
28. |
Bergman JE et al. () Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene. |
29. |
Bär H et al. (2007) Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies. |
30. |
Shelton GD et al. (2004) Myofibrillar myopathy with desmin accumulation in a young Australian Shepherd dog. |
31. |
Ferreiro A et al. (2004) Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene. |
32. |
Selcen D et al. (2004) Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients. |
33. |
Kaminska A et al. (2004) Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy. |
34. |
Bushby KM et al. (2003) The 105th ENMC sponsored workshop: pathogenesis in the non-sarcoglycan limb-girdle muscular dystrophies, Naarden, April 12-14, 2002. |
35. |
Westenskow P et al. (2004) Compound mutations: a common cause of severe long-QT syndrome. |
36. |
Johnson JN et al. (2008) Prevalence of early-onset atrial fibrillation in congenital long QT syndrome. |
37. |
Imboden M et al. (2006) Female predominance and transmission distortion in the long-QT syndrome. |
38. |
Napolitano C et al. (2005) Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. |
39. |
Priori SG et al. (1999) Genetic and molecular basis of cardiac arrhythmias: impact on clinical management part III. |
40. |
Priori SG et al. (1999) Genetic and molecular basis of cardiac arrhythmias: impact on clinical management parts I and II. |
41. |
Ackerman MJ et al. (1998) A novel mutation in KVLQT1 is the molecular basis of inherited long QT syndrome in a near-drowning patient's family. |
42. |
Millat G et al. (2006) Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. |
43. |
Tester DJ et al. (2005) Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. |
44. |
None (1965) CONGENITAL CARDIAC ARRHYTHMIA. |
45. |
Yang P et al. (2002) Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes. |
46. |
Splawski I et al. (2000) Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. |
47. |
Jongbloed RJ et al. (1999) Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. |
48. |
Berthet M et al. (1999) C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence. |
49. |
Priori SG et al. (1999) Low penetrance in the long-QT syndrome: clinical impact. |
50. |
Zareba W et al. (1998) Influence of genotype on the clinical course of the long-QT syndrome. International Long-QT Syndrome Registry Research Group. |
51. |
Mounkes LC et al. (2005) Expression of an LMNA-N195K variant of A-type lamins results in cardiac conduction defects and death in mice. |
52. |
BARRY M et al. (1962) Familial cardiomyopathy. |
53. |
Gouas L et al. (2005) Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population. |
54. |
GAMSTORP I et al. (1964) CONGENITAL CARDIAC ARRHYTHMIA. |
55. |
Priori SG et al. (2003) Risk stratification in the long-QT syndrome. |
56. |
None (2003) The long-QT syndrome--bedside to bench to bedside. |
57. |
Kimbrough J et al. (2001) Clinical implications for affected parents and siblings of probands with long-QT syndrome. |
58. |
Miller MD et al. (2001) Diagnostic accuracy of screening electrocardiograms in long QT syndrome I. |
59. |
Itoh T et al. (2001) Correlation of genetic etiology with response to beta-adrenergic blockade among symptomatic patients with familial long-QT syndrome. |
60. |
None (2011) Contribution of acquired factors to the pathogenesis of dilated cardiomyopathy. -The cause of dilated cardiomyopathy: genetic or acquired? (Acquired-Side)-. |
61. |
Levitas A et al. (2010) Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase. |
62. |
Gupta P et al. (2010) Genetic and ultrastructural studies in dilated cardiomyopathy patients: a large deletion in the lamin A/C gene is associated with cardiomyocyte nuclear envelope disruption. |
63. |
None (1949) Familial cardiomegaly. |
64. |
Elliott JF et al. (2003) Autoimmune cardiomyopathy and heart block develop spontaneously in HLA-DQ8 transgenic IAbeta knockout NOD mice. |
65. |
BOYD DL et al. (1965) THREE FAMILIES WITH FAMILIAL CARDIOMYOPATHY. |
66. |
BIOERCK G et al. (1964) FAMILIAL CARDIOMYOPATHIES. |
67. |
BISHOP JM et al. (1962) Cardiomyopathy in four members of a family. |
69. |
OMIM.ORG article Omim 192500 |