Journal of Forensic and Legal Medicine
Volume 15, Issue 3 , Pages 185-188 , April 2008

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

  • A.J.O. Kolar (Specialist Registrar in Forensic Pathology)

      Affiliations

    • Department of Forensic Pathology and Legal Medicine, Forensic Science Service, The Medico-Legal Centre, Watery Street, Sheffield S3 7ES, United Kingdom
    • ,
  • C.M. Milroy (Home Office Registered Pathologist)

      Affiliations

    • Department of Forensic Pathology and Legal Medicine, Forensic Science Service, The Medico-Legal Centre, Watery Street, Sheffield S3 7ES, United Kingdom
    • ,
  • P.F. Day (Lecturer in Paediatric Dentistry)

      Affiliations

    • Department of Paediatric Dentistry, Leeds Dental Institute, Clarendon Way, Leeds LS2 9LU, United Kingdom
    • ,
  • S.K. Suvarna (Consultant Histopathologist)

      Affiliations

    • Histopathology, Northern General Hospital, Sheffield Teaching Hospitals, Herries Road, Sheffield S5 7AU, United Kingdom
    • Corresponding Author InformationCorresponding author. Tel.: +44 0114 271 4942.

Received 18 May 2007 ,Revised 2 August 2007 ,Accepted 19 September 2007.

References 

  1. Protonotarios N, Tsatsopoulou A. Naxos disease and carvajal syndrome: cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy. Cardiovasc Pathol. 2004;13:185–194
  2. Norgett EE, Hatsell SJ, 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. 2000;9:2761–2766
  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. 2000;355:2119–2224
  4. Thiene G, Basso C, Calabrese F, Angelini A, Valente M. Twenty years of progress and beckoning frontiers in cardiovascular pathology: cardiomyopathies. Cardiovasc Pathol. 2005;14:165–169
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  7. Corrado D, Basso C, Nava A, Thiene G. Arrhythmogenic right ventricular cardiomyopathy: current diagnostic and management strategies. Cardiol Rev. 2001;9:259–265
  8. Basso C, Thiene G. Adipositas cordis, fatty infiltration of the right ventricle, and arrhythmogenic right ventricular cardiomyopathy. Just a matter of fat?. Cardiovasc Pathol. 2005;14:37–41
  9. Gallo P, d’Amati G. Cardiomyopathy. In:  Silver MS,  Gotlieb AI,  Schoen FJ editor. Cardiovascular pathology. 3rd ed.. New York: Churchill Livingstone; 2001;p. 285–325
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  12. Towbin JA. Molecular basis for sudden cardiac death. Cardiovasc Pathol. 2001;10:283–295
  13. DiMaio VJ, DiMaio D. Sudden death during or immediately after a violent struggle. In: Forensic pathology. 2nd ed.. Boca Raton: CRC Press; 2001;p. 499–506
  14. Goligorsky MS. The concept of cellular “fight-or-flight” reaction to stress. Am J Physiol Renal Physiol. 2001;280:F551–F561
  15. Qureshi EA, Merla V, Steinberg J, Rozanski A. Terrorism and the heart: implications for arrhythmogenesis and coronary artery disease. Card Electrophysiol Rev. 2003;7:80–84

PII: S1752-928X(07)00139-4

doi: 10.1016/j.jflm.2007.09.002

Journal of Forensic and Legal Medicine
Volume 15, Issue 3 , Pages 185-188 , April 2008

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