Juvenile sudden death in a family with polymorphic ventricular arrhythmias caused by a novel RyR2 gene mutation: Evidence of specific morphological substrates

Human Pathology

Volumn 36, Issue 7, 2005, Pages 761-767

  D'Amati, Giulia ^a   Bagattin, Alessia ^b   Bauce, Barbara ^b   Rampazzo, Alessandra ^b   Autore, Camillo ^a   Basso, Cristina ^b   King, Kathy ^b   Romeo, Maria Daniela ^a   Gallo, Pietro ^a   Thiene, Gaetano ^b,c   Danieli, Gian Antonio ^b   Nava, Andrea ^b  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b UNIVERSITY OF PADOVA   (Italy)

^c UNIVERSITY OF PADUA MEDICAL SCHOOL   (Italy)

Author keywords

Arrhythmogenic right ventricular cardiomyopathy; Calcium; Cardiac ryanodine receptor gene; Catecholaminergic polymorphic ventricular tachycardia; Molecular genetics

Indexed keywords

CALCIUM PHOSPHATE; RYANODINE RECEPTOR;

ADULT; ARRHYTHMOGENESIS; ARTICLE; BLOOD SAMPLING; CARDIOMYOPATHY; CLINICAL ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; FAMILY HISTORY; FEMALE; GENE EXPRESSION; GENE MUTATION; HEART MUSCLE CELL; HEART VENTRICLE ARRHYTHMIA; HEART VENTRICLE TACHYCARDIA; HETEROZYGOTE; HUMAN; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; PHENOTYPE; SCHOOL CHILD; SUDDEN DEATH;

ADOLESCENT; ADULT; CALCINOSIS; CARDIOMYOPATHIES; CHILD; DEATH, SUDDEN, CARDIAC; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FATAL OUTCOME; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; MYOCYTES, CARDIAC; PEDIGREE; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL; TACHYCARDIA, VENTRICULAR;

EID: 23444460252     PISSN: 00468177     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.humpath.2005.04.019     Document Type: Article

References (25)

1. C. Basso, F. Calabrese, D. Corrado, and G. Thiene Postmortem diagnosis in sudden cardiac death victims: macroscopic, microscopic and molecular findings Cardiovasc Res 50 2001 290 330
2. N. Tiso, D.A. Stephan, and A. Nava Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2) Hum Mol Genet 10 2001 189 194
3. B. Bauce, A. Rampazzo, and C. Basso Screening for ryanodine receptor type 2 mutations in families with effort-induced polymorphic ventricular arrhythmias and sudden death: early diagnosis of asymptomatic carriers J Am Coll Cardiol 40 2002 341 349
4. S.G. Priori, C. Napolitano, and N. Tiso Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia Circulation 103 2001 196 200
5. P.J. Laitinen, K.M. Brown, and K. Piippo Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia Circulation 103 2001 485 490
6. P.J. Laitinen, H. Swan, and K. Kontula Molecular genetics of exercise-induced polymorphic ventricular tachycardia: identification of three novel cardiac ryanodine receptor mutations and two common calsequestrin 2 amino-acid polymorphisms Eur J Hum Genet 11 2003 888 891
7. S.G. Priori, C. Napolitano, and M. Memmi Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia Circulation 106 2002 69 74
8. A.G.E. Pease Histochemistry: theoretical and applied 1972 Williams & Wilkins Baltimore (Md) 1138 1139
9. Y. Gavrieli, Y. Sherman, and S.A. Ben-Sasson Identification of programmed cell death in situ via specific labelling of nuclear DNA fragmentation J Cell Biol 119 1992 493 501
10. A. Bagattin, C. Veronese, and B. Bauce Denaturing HPLC-based approach for detecting RYR2 mutations involved in malignant arrhythmias Clin Chem 50 2004 1148 1155
11. 2+ release channel (ryanodine receptor) J Biol Chem 278 2003 3786 3792
12. N. Tiso, M. Salamon, and A. Bagattin The binding of the RyR2 calcium channel to its gating protein FKBP12.6 is oppositely affected by ARVD2 and VTSIP mutations Biochem Biophys Res Commun 299 2002 594 598
13. X.H. Wehrens, S.E. Lehnart, and F. Huang FKBP12.6 deficiency and defective calcium release channel (ryanodine receptor) function linked to exercise-induced sudden cardiac death Cell 113 2003 829 840
14. C.H. George, G.V. Higgs, and F.A. Lai Ryanodine receptor mutations associated with stress-induced ventricular tachycardia mediate increased calcium release in stimulated cardiomyocytes Circ Res 93 2003 531 540
15. S.E. Lehnart, X.H. Wehrens, and P.J. Laitinen Sudden death in familial polymorphic ventricular tachycardia associated with calcium release channel (ryanodine receptor) leak Circulation 109 2004 3208 3214
16. B. Bauce, A. Nava, and A. Rampazzo Familial effort polymorphic ventricular arrhythmias in arrhythmogenic right ventricular cardiomyopathy map to chromosome 1q42-43 Am J Cardiol 85 2000 573 579
17. G. Thiene, A. Nava, and D. Corrado Right ventricular cardiomyopathy and sudden death in young people N Engl J Med 318 1988 129 133
18. C. Basso, G. Thiene, D. Corrado, A. Angelini, A. Nava, and M. Valente Arrhythmogenic right ventricular cardiomyopathy. Dysplasia, dystrophy or myocarditis? Circulation 94 1996 983 991
19. G. d'Amati, O. Leone, and C.R.T. di Gioia Arrhythmogenic right ventricular cardiomyopathy: clinicopathological correlation based on a revised definition of pathological patterns Hum Pathol 32 2001 1078 1086
20. W.C. Roberts, and B.F. Waller Effects of chronic hypercalcemia on the heart. An analysis of 18 necropsy patients Am J Med 71 1981 371 384
21. V.G. Lockardd, and S. Bloom Morphologic features and nuclide composition of infarction-associated cardiac myocyte mineralization in humans Am J Pathol 139 1991 565 572
22. H.G. Olbrich, G. Herrmann, and G. Vandeplassche Calcium overload in human giant cell myocarditis J Clin Pathol 43 1990 650 653
23. M.A. Rossi, and C.S. Santos Sepsis-related microvascular myocardial damage with giant cell inflammation and calcification Virchows Arch 443 2003 87 92
24. 2+ release in cardiomyocytes Nat Cell Biol 3 2001 867 873
25. E. Carafoli Historical review: mitochondria and calcium: ups and downs of an unusual relationship Trends Biochem Sci 28 2003 175 181