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Early cardiomyopathy without severe metabolic dysregulation in a patient with cblB-type methylmalonic acidemia

Early cardiomyopathy without severe metabolic dysregulation in a patient with cblB-type methylmalonic acidemia


Title: Early cardiomyopathy without severe metabolic dysregulation in a patient with cblB-type methylmalonic acidemia
Author: Agnarsdóttir, Dagbjört
Sigurjónsdóttir, Vaka Kristín
Emilsdóttir, Arna Rut
Petersen, Erna
Sigfússon, Gunnlaugur
Rögnvaldsson, Ingólfur
Franzson, Leifur
Vernon, Hilary
Bjornsson, Hans Tomas
Date: 2022-06-16
Language: English
Scope: e1971
University/Institute: Landspitali - The National University Hospital of Iceland
Department: Faculty of Medicine
Clinical Laboratory Services, Diagnostics and Blood Bank
Internal Medicine and Emergency Services
Series: Molecular Genetics and Genomic Medicine; 10(7)
ISSN: 2324-9269
DOI: https://doi.org/10.1002/mgg3.1971
Subject: Lyfjafræði; Lífefna- og sameindalíffræði; Barnalæknisfræði; Næringarfræðingar; cblB; dilated cardiomyopathy; heart failure; MMAB; Cardiomyopathies/drug therapy; Humans; Female; Amino Acid Metabolism, Inborn Errors/drug therapy; Proto-Oncogene Proteins c-cbl/genetics; Mutation; Adaptor Proteins, Signal Transducing/genetics; Genetics (clinical); Genetics; Molecular Biology
URI: https://hdl.handle.net/20.500.11815/3485

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Citation:

Agnarsdóttir , D , Sigurjónsdóttir , V K , Emilsdóttir , A R , Petersen , E , Sigfússon , G , Rögnvaldsson , I , Franzson , L , Vernon , H & Bjornsson , H T 2022 , ' Early cardiomyopathy without severe metabolic dysregulation in a patient with cblB-type methylmalonic acidemia ' , Molecular Genetics and Genomic Medicine , vol. 10 , no. 7 , e1971 , pp. e1971 . https://doi.org/10.1002/mgg3.1971

Abstract:

Background: Cardiomyopathy is a known complication of organic acidemias but generally thought to be secondary to poor metabolic control. Methods: Our patient was found through biochemical testing and Sanger sequencing to harbor an Icelandic founder mutation: NM_052845.4(MMAB):c.571C > T(p.Arg191Trp), leading to an early presentation (4 h after birth) of cblB-type methylmalonic acidemia (MMA). Biochemical testing of this patient suggested B-12-responsiveness and thus the patient was treated with cyanocobalamin throughout life. Informed parental consent was obtained for this report. Results: Our patient had three metabolic decompensations in her life (at birth, at 1 month, and at 5 months). The first decompensation was probably linked to stress of delivery, second to rhinovirus infection, and third by co-infection of norovirus and enterovirus. At 3 months, the patient was noted to be tachypneic, although this was attributed to her underlying metabolic acidosis. At 5 months and 10 days, the patient was admitted with minor flu-like symptoms but developed severe diarrhea in hospital and upon rehydration had cardiac decompensation and was found to have undiagnosed dilated cardiomyopathy. Although, patient was treated aggressively with dextrose, hemodialysis, levocarnitine, and vasoactive agents, there was limited response to medications to treat cardiac failure, and eventually the patient passed away before turning 6 months old. Conclusions: Other than these three mild decompensations, patient had very good metabolic control, thus demonstrating that even without frequent metabolic decompensation, cardiomyopathy can be an observed phenotype in cblB-type MMA even very early in life, suggesting that this phenotype may be independent of metabolic control.

Description:

Funding Information: The authors would like to thank the family of the patient for allowing us to write up the clinical course from this patient. The authors also would like to thank Herdís Gísladóttir, genetics nurse at the Department of Genetics and Molecular Medicine, Landspítali hospital. Publisher Copyright: © 2022 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.

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