Worsening of the clinical-hematological picture in a patient with a rare PK-LR compound heterozygosis after mitral replacement

Angelo Minucci, Bm Ricerca, Domenico Tripodi, Lucia Matarazzo, Teresa De Michele, Bruno Giardina, Cecilia Zuppi, Ettore Domenico Capoluongo

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

We report a case of a patient affected by compound heterozygosis for two PK-LR gene mutations: p.R486W (c.1456C>T) and p.M4031(c.1209G>A). Our patient suffered from an initial moderate hemolytic anemia which subsequently evolved into a severe form after mitral prosthetic valve replacement for valve regurgitation. Thereafter, the clinical features evolved into a worsening of anemia, heart failure and pulmonary hypertension, in the absence of valve dysfunction. This clinical picture improved only after an intensive transfusion regimen. This case highlights aspects concerning the intricate balance between the risks and benefits of a mechanical prosthetic valve implant in PM-deficient patients.
Original languageEnglish
Pages (from-to)1261-1263
Number of pages3
JournalClinical Biochemistry
Volume44
DOIs
Publication statusPublished - 2011

Keywords

  • Hemolytic anemia
  • Mitral valve replacement
  • Pulmonary hypertension
  • Pyruvate kinase deficiency

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