title: Worsening of the clinical-hematological picture in a patient with a rare PK-LR compound heterozygosis after mitral replacement.
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.M403I (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 PK-deficient patients.
authors.affiliation: Laboratory of Clinical Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University of the Sacred Heart, Rome, Italy. angelo.minucci@rm.unicatt.it
authors.forename: Angelo
authors.initials: A
authors.lastname: Minucci
authors.forename: Bianca Maria
authors.initials: BM
authors.lastname: Ricerca
authors.forename: Domenico
authors.initials: D
authors.lastname: Tripodi
authors.forename: Lucia
authors.initials: L
authors.lastname: Matarazzo
authors.forename: Teresa
authors.initials: T
authors.lastname: De Michele
authors.forename: Bruno
authors.initials: B
authors.lastname: Giardina
authors.forename: Cecilia
authors.initials: C
authors.lastname: Zuppi
authors.forename: Ettore
authors.initials: E
authors.lastname: Capoluongo
mesh_terms: D000368:Aged; D000743:Anemia, Hemolytic / Q000601:surgery; D019918:Heart Valve Prosthesis Implantation / Q000009:adverse effects*; D006579:Heterozygote; D006801:Humans; D006976:Hypertension, Pulmonary / Q000209:etiology; D008297:Male; D008943:Mitral Valve / Q000601:surgery*; D009154:Mutation; D011770:Pyruvate Kinase / Q000172:deficiency / Q000235:genetics*; D012092:Replantation
chemical_list: D011770:Pyruvate Kinase