Dilated cardiomyopathy in a 32-year-old woman with Russell-Silver syndrome

Cardiovascular Pathology

Volumn 23, Issue 1, 2014, Pages 21-27

  Ryan, Thomas D ^a   Gupta, Anita ^a   Gupta, Divya ^b   Goldenberg, Paula ^a   Taylor, Michael D ^a   Lorts, Angela ^a   Jefferies, John L ^a  

^a CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^b East Tennessee State University   (United States)

Author keywords

Cardiomyopathy; Genetics; Sarcomere

Indexed keywords

BETA ADRENERGIC RECEPTOR BLOCKING AGENT; CARBON DIOXIDE; DESMIN; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; LACTIC ACID; OXYGEN; TROPONIN I;

ADIPOSE TISSUE; ADULT; ALKALOSIS; ARTICLE; BLOOD GAS ANALYSIS; BLOOD PH; CARBON DIOXIDE TENSION; CARDIOVASCULAR MAGNETIC RESONANCE; CASE REPORT; CELL ULTRASTRUCTURE; CONGESTIVE CARDIOMYOPATHY; CRACKLE; DISEASE DURATION; DYSPNEA; ELECTROCARDIOGRAM; FEMALE; FIBROSING ALVEOLITIS; FOLLOW UP; GENETIC ANALYSIS; HEART CATHETERIZATION; HEART LEFT VENTRICLE EJECTION FRACTION; HEART MUSCLE BIOPSY; HEART MUSCLE CELL; HEART MUSCLE FIBROSIS; HEPATOMEGALY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; IMMUNOREACTIVITY; LACTATE BLOOD LEVEL; LEFT VENTRICULAR SYSTOLIC DYSFUNCTION; LUNG INFILTRATE; MAINTENANCE THERAPY; MUSCLE ATROPHY; MUSCLE HYPERTROPHY; NUCLEAR SIZE; OXYGEN TENSION; OXYGEN THERAPY; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; SARCOMERE; SILVER RUSSELL SYNDROME; SINUS TACHYCARDIA; T WAVE; THORAX RADIOGRAPHY; WALKING DIFFICULTY;

CARDIOMYOPATHY; GENETICS; SARCOMERE;

ADRENERGIC BETA-ANTAGONISTS; ADULT; ANGIOTENSIN-CONVERTING ENZYME INHIBITORS; BIOPSY; CARDIOMYOPATHY, DILATED; DNA METHYLATION; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOMIC IMPRINTING; HUMANS; MAGNETIC RESONANCE IMAGING; MYOCARDIUM; PHENOTYPE; SILVER-RUSSELL SYNDROME;

EID: 84890074648     PISSN: 10548807     EISSN: 18791336     Source Type: Journal    
DOI: 10.1016/j.carpath.2013.08.004     Document Type: Article

References (28)

1. T Eggermann, M Begemann, G Binder, and S Spengler Silver-Russell syndrome: genetic basis and molecular genetic testing Orphanet J Rare Dis 5 2010 19
2. EL Wakeling Silver-Russell syndrome Arch Dis Child 96 2011 1156 1161
3. J Demars, and C Gicquel Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russell syndromes Clin Genet 81 2012 350 361
4. MM Cohen Beckwith-Wiedemann syndrome: historical, clinicopathological, and etiopathogenetic perspectives Pediatr Dev Pathol 8 2005 287 304
5. RB Cole, and SE Levin Congenital heart disease associated with the Russell-Silver syndrome S Afr Med J 47 1973 989 990
6. KK Hansen, LA Latson, and BA Buehler Silver-Russell syndrome with unusual findings Pediatrics 79 1987 125 128
7. CE Vahlas, AC Chatzis, NM Giannopoulos, CA Contrafouris, MC Milonakis, and GE Sarris Surgical closure of an atrial septal defect in an 11-year-old girl with Silver-Russell syndrome J Cardiovasc Med (Hagerstown) 8 2007 850 851
8. A Galli-Tsinopoulou, E Emmanouilidou, P Karagianni, M Grigoriadou, J Kirkos, and GS Varlamis A female infant with Silver Russell Syndrome, mesocardia and enlargement of the clitoris Hormones (Athens) 7 2008 77 81
9. Q Xu, S Dewey, S Nguyen, and AV Gomes Malignant and benign mutations in familial cardiomyopathies: insights into mutations linked to complex cardiovascular phenotypes J Mol Cell Cardiol 48 2010 899 909
10. S Morimoto Sarcomeric proteins and inherited cardiomyopathies Cardiovasc Res 77 2008 659 666
11. AH Frazier, GA Ramirez-Correa, and AM Murphy Molecular mechanisms of sarcomere dysfunction in dilated and hypertrophic cardiomyopathy Prog Pediatr Cardiol 31 2011 29 33
12. Towbin JA. Left ventricular noncompaction: a new form of heart failure. Heart Fail Clin 2010;6:453-69, viii.
13. X Chen, and Y Zhang Myocardial Cx43 expression in the cases of sudden death due to dilated cardiomyopathy Forensic Sci Int 162 2006 170 173
14. TP Zwaka, D Manolov, and C Ozdemir Complement and dilated cardiomyopathy: a role of sublytic terminal complement complex-induced tumor necrosis factor-alpha synthesis in cardiac myocytes Am J Pathol 161 2002 449 457
15. S Kostin, S Hein, E Arnon, D Scholz, and J Schaper The cytoskeleton and related proteins in the human failing heart Heart Fail Rev 5 2000 271 280
16. M Sekiguchi, ZX Yu, M Hasumi, M Hiroe, S Morimoto, and T Nishikawa Histopathologic and ultrastructural observations of acute and convalescent myocarditis: a serial endomyocardial biopsy study Heart Vessels Suppl 1 1985 143 153
17. E Arbustini, P Morbini, and M Grasso Restrictive cardiomyopathy, atrioventricular block and mild to subclinical myopathy in patients with desmin-immunoreactive material deposits J Am Coll Cardiol 31 1998 645 653
18. J Schaper, F Hehrlein, M Schlepper, and KU Thiedemann Ultrastructural alterations during ischemia and reperfusion in human hearts during cardiac surgery J Mol Cell Cardiol 9 1977 175 189
19. A Fidzianska, Z Glinka-Lindner, G Religa, and E Walczak Usefulness of the ultrastructural and immunohistochemical analysis of cardiac biopsy in affected heart Folia Neuropathol 48 2010 57 63
20. MA Sussman, S Welch, and N Gude Pathogenesis of dilated cardiomyopathy: molecular, structural, and population analyses in tropomodulin-overexpressing transgenic mice Am J Pathol 155 1999 2101 2113
21. A Kostareva, G Sjoberg, and A Gudkova Desmin A213V substitution represents a rare polymorphism but not a mutation and is more prevalent in patients with heart dilation of various origins Acta Myol 30 2011 42 45
22. E Edston, and K Kawa Immunohistochemical detection of early myocardial infarction. An evaluation of antibodies against the terminal complement complex (C5b-9) Int J Legal Med 108 1995 27 30
23. J Ouyang, M Guzman, F Desoto-Lapaix, MR Pincus, and R Wieczorek Utility of desmin and a Masson's trichrome method to detect early acute myocardial infarction in autopsy tissues Int J Clin Exp Pathol 3 2009 98 105
24. CP Jenkins, DM Cardona, JN Bowers, BR Oliai, RW Allan, and SJ Normann The utility of C4d, C9, and troponin T immunohistochemistry in acute myocardial infarction Arch Pathol Lab Med 134 2010 256 263
25. C Ortmann, H Pfeiffer, and B Brinkmann A comparative study on the immunohistochemical detection of early myocardial damage Int J Legal Med 113 2000 215 220
26. M Shimoda, S Morita, Y Obata, Y Sotomaru, T Kono, and I Hatada Imprinting of a small nucleolar RNA gene on mouse chromosome 12 Genomics 79 2002 483 486
27. AJ Villar, EJ Carlson, AM Gillespie, PC Ursell, and CJ Epstein Cardiomyopathy in mice with paternal uniparental disomy for chromosome 12 Genesis 30 2001 274 279
28. CA Walter, LG Shaffer, and CI Kaye Short-limb dwarfism and hypertrophic cardiomyopathy in a patient with paternal isodisomy 14: 45, XY, idic(14)(p11) Am J Med Genet 65 1996 259 265