Philadelphia chromosome positive essential thrombocythemia with dilated cardiomyopathy

J Assoc Physicians India. 2005 Jun:53:568-70.

Abstract

We report here an unusual case of a 30-year old male patient with essential thrombocythemia (ET) and dilated cardiomyopathy, who on further investigation was found to have Philadelphia chromosome positive (Ph+) cells in the bone marrow. The reverse transcriptase-polymerase chain reaction (RT-PCR) test on his peripheral blood leucocytes revealed b2a2 transcript of the bcr-abl fusion gene. Literature shows that the boundary line between Ph+ essential thrombocythemia and chronic myeloid leukemia (CML) is getting blurred day by day. Each one may be a part of the spectrum of a single clonal proliferative disease. Association of dilated cardiomyopathy with ET has not been reported.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Cardiomyopathy, Dilated / genetics*
  • Humans
  • Male
  • Philadelphia Chromosome*
  • Thrombocythemia, Essential / genetics*