Dilated cardiomyopathy and sudden death in a teenager with palmar-plantar keratosis (occult Carvajal syndrome)

Journal of Forensic and Legal Medicine

Volumn 15, Issue 3, 2008, Pages 185-188

  Kolar, A J O ^a   Milroy, C M ^a   Day, P F ^b   Suvarna, S K ^c  

^a FORENSIC SCIENCE SERVICE   (United Kingdom)

^b LEEDS DENTAL INSTITUTE   (United Kingdom)

^c NORTHERN GENERAL HOSPITAL   (United Kingdom)

Author keywords

Cardiomyopathy; Carvajal syndrome; Naxos disease; Sudden death; Traumatology

Indexed keywords

ADOLESCENT; ARTICLE; AUTOPSY; CASE REPORT; CAUSE OF DEATH; COLLAPSE; CONGESTIVE CARDIOMYOPATHY; DIFFERENTIAL DIAGNOSIS; FATALITY; FEMALE; GENODERMATOSIS; HEART ARREST; HEART LEFT VENTRICLE; HEART MUSCLE FIBROSIS; HEART RIGHT VENTRICLE DYSPLASIA; HISTOPATHOLOGY; HUMAN; INJURY; MENTAL STRESS; PALMOPLANTAR KERATODERMA; PATIENT REFERRAL; PHYSIOLOGICAL STRESS; POSTTRAUMATIC STRESS DISORDER; STRESS; SUDDEN DEATH; VERBAL HOSTILITY;

ADOLESCENT; CARDIOMYOPATHY, DILATED; DEATH, SUDDEN; FEMALE; FIBROSIS; FORENSIC PATHOLOGY; HEART ARREST; HEART VENTRICLES; HUMANS; KERATODERMA, PALMOPLANTAR; PAPILLON-LEFEVRE DISEASE; STRESS, PSYCHOLOGICAL; SYNDROME;

EID: 39749180427     PISSN: 1752928X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jflm.2007.09.002     Document Type: Article

References (15)

1. Protonotarios N., and Tsatsopoulou A. Naxos disease and carvajal syndrome: cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy. Cardiovasc Pathol 13 (2004) 185-194
2. Norgett E.E., Hatsell S.J., Carvajal-Huerta L., et al. Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet 9 (2000) 2761-2766
3. McKoy G., Protonotarios N., Crosby A., et al. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet 355 (2000) 2119-2224
4. Thiene G., Basso C., Calabrese F., Angelini A., and Valente M. Twenty years of progress and beckoning frontiers in cardiovascular pathology: cardiomyopathies. Cardiovasc Pathol 14 (2005) 165-169
5. Ormerod D.C. Case comment R v Carey. Crim Law Rev (2006) 842-848
6. McKenna W.J., Thiene G., Nava A., et al. Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Task force of the Working Group myocardial and pericardial disease of the European Society of cardiology and of the Scientific Council on cardiomyopathies of the International Society and Federation of cardiology. Br Heart J 71 (1994) 215-218
7. Corrado D., Basso C., Nava A., and Thiene G. Arrhythmogenic right ventricular cardiomyopathy: current diagnostic and management strategies. Cardiol Rev 9 (2001) 259-265
8. Basso C., and Thiene G. Adipositas cordis, fatty infiltration of the right ventricle, and arrhythmogenic right ventricular cardiomyopathy. Just a matter of fat?. Cardiovasc Pathol 14 (2005) 37-41
9. Gallo P., and d'Amati G. Cardiomyopathy. In: Silver M.S., Gotlieb A.I., and Schoen F.J. (Eds). Cardiovascular pathology. 3rd ed. (2001), Churchill Livingstone, New York 285-325
10. Severs N.J. The cardiac muscle cell. Bioessays 22 (2000) 188-199
11. Severs N.J., Coppen S.R., Dupont E., Yeh H., Ko Y.S., and Matsushita T. Gap junction alterations in human cardiac disease. Cardiovasc Res 62 (2004) 368-377
12. Towbin J.A. Molecular basis for sudden cardiac death. Cardiovasc Pathol 10 (2001) 283-295
13. DiMaio V.J., and DiMaio D. Sudden death during or immediately after a violent struggle. Forensic pathology. 2nd ed. (2001), CRC Press, Boca Raton 499-506
14. Goligorsky M.S. The concept of cellular "fight-or-flight" reaction to stress. Am J Physiol Renal Physiol 280 (2001) F551-F561
15. Qureshi E.A., Merla V., Steinberg J., and Rozanski A. Terrorism and the heart: implications for arrhythmogenesis and coronary artery disease. Card Electrophysiol Rev 7 (2003) 80-84