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Unusual Association of Diamond–Blackfan Anemia and Severe Sinus Bradycardia in a Six-Month-Old White Infant: A Case Report and Literature Review

Diamond–Blackfan anemia is a rare (6–7 million live births), inherited condition manifesting as severe anemia due to the impaired bone marrow production of red blood cells. We present the unusual case of a six month old infant with a de novo mutation of the RPS19 gene causing Diamond–Blackfan anemia...

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Autores principales: Moisa, Stefana Maria, Spoiala, Elena-Lia, Trandafir, Laura Mihaela, Butnariu, Lacramioara Ionela, Miron, Ingrith-Crenguta, Ciobanu, Antonela, Mocanu, Adriana, Ivanov, Anca, Ciongradi, Carmen Iulia, Sarbu, Ioan, Ciubara, Anamaria, Rusu, Carmen Daniela, Luca, Alina Costina, Burlacu, Alexandru
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9964496/
https://www.ncbi.nlm.nih.gov/pubmed/36837563
http://dx.doi.org/10.3390/medicina59020362
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author Moisa, Stefana Maria
Spoiala, Elena-Lia
Trandafir, Laura Mihaela
Butnariu, Lacramioara Ionela
Miron, Ingrith-Crenguta
Ciobanu, Antonela
Mocanu, Adriana
Ivanov, Anca
Ciongradi, Carmen Iulia
Sarbu, Ioan
Ciubara, Anamaria
Rusu, Carmen Daniela
Luca, Alina Costina
Burlacu, Alexandru
author_facet Moisa, Stefana Maria
Spoiala, Elena-Lia
Trandafir, Laura Mihaela
Butnariu, Lacramioara Ionela
Miron, Ingrith-Crenguta
Ciobanu, Antonela
Mocanu, Adriana
Ivanov, Anca
Ciongradi, Carmen Iulia
Sarbu, Ioan
Ciubara, Anamaria
Rusu, Carmen Daniela
Luca, Alina Costina
Burlacu, Alexandru
author_sort Moisa, Stefana Maria
collection PubMed
description Diamond–Blackfan anemia is a rare (6–7 million live births), inherited condition manifesting as severe anemia due to the impaired bone marrow production of red blood cells. We present the unusual case of a six month old infant with a de novo mutation of the RPS19 gene causing Diamond–Blackfan anemia who additionally suffers from severe sinus bradycardia. The infant was diagnosed with this condition at the age of four months; at the age of 6 months, she presents with severe anemia causing hypoxia which, in turn, caused severe dyspnea and polypnea, which had mixed causes (hypoxic and infectious) as the child was febrile. After correction of the overlapping diarrhea, metabolic acidosis, and severe anemia (hemoglobin < 3 g/dL), she developed severe persistent sinus bradycardia immediately after mild sedation (before central venous catheter insertion), not attributable to any of the more frequent causes, with a heart rate as low as 49 beats/min on 24 h Holter monitoring, less than the first percentile for age, but with a regular QT interval and no arrhythmia. The echocardiogram was unremarkable, showing a small interatrial communication (patent foramen ovale with left-to-right shunting), mild left ventricular hypertrophy, normal systolic and diastolic function, and mild tricuspid regurgitation. After red cell transfusion and appropriate antibiotic and supportive treatment, the child’s general condition improved dramatically but the sinus bradycardia persisted. We consider this a case of well-tolerated sinus bradycardia and foresee a good cardiologic prognosis, while the hematologic prognosis remains determined by future corticoid response, treatment-related complications and risk of leukemia.
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spelling pubmed-99644962023-02-26 Unusual Association of Diamond–Blackfan Anemia and Severe Sinus Bradycardia in a Six-Month-Old White Infant: A Case Report and Literature Review Moisa, Stefana Maria Spoiala, Elena-Lia Trandafir, Laura Mihaela Butnariu, Lacramioara Ionela Miron, Ingrith-Crenguta Ciobanu, Antonela Mocanu, Adriana Ivanov, Anca Ciongradi, Carmen Iulia Sarbu, Ioan Ciubara, Anamaria Rusu, Carmen Daniela Luca, Alina Costina Burlacu, Alexandru Medicina (Kaunas) Review Diamond–Blackfan anemia is a rare (6–7 million live births), inherited condition manifesting as severe anemia due to the impaired bone marrow production of red blood cells. We present the unusual case of a six month old infant with a de novo mutation of the RPS19 gene causing Diamond–Blackfan anemia who additionally suffers from severe sinus bradycardia. The infant was diagnosed with this condition at the age of four months; at the age of 6 months, she presents with severe anemia causing hypoxia which, in turn, caused severe dyspnea and polypnea, which had mixed causes (hypoxic and infectious) as the child was febrile. After correction of the overlapping diarrhea, metabolic acidosis, and severe anemia (hemoglobin < 3 g/dL), she developed severe persistent sinus bradycardia immediately after mild sedation (before central venous catheter insertion), not attributable to any of the more frequent causes, with a heart rate as low as 49 beats/min on 24 h Holter monitoring, less than the first percentile for age, but with a regular QT interval and no arrhythmia. The echocardiogram was unremarkable, showing a small interatrial communication (patent foramen ovale with left-to-right shunting), mild left ventricular hypertrophy, normal systolic and diastolic function, and mild tricuspid regurgitation. After red cell transfusion and appropriate antibiotic and supportive treatment, the child’s general condition improved dramatically but the sinus bradycardia persisted. We consider this a case of well-tolerated sinus bradycardia and foresee a good cardiologic prognosis, while the hematologic prognosis remains determined by future corticoid response, treatment-related complications and risk of leukemia. MDPI 2023-02-14 /pmc/articles/PMC9964496/ /pubmed/36837563 http://dx.doi.org/10.3390/medicina59020362 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Moisa, Stefana Maria
Spoiala, Elena-Lia
Trandafir, Laura Mihaela
Butnariu, Lacramioara Ionela
Miron, Ingrith-Crenguta
Ciobanu, Antonela
Mocanu, Adriana
Ivanov, Anca
Ciongradi, Carmen Iulia
Sarbu, Ioan
Ciubara, Anamaria
Rusu, Carmen Daniela
Luca, Alina Costina
Burlacu, Alexandru
Unusual Association of Diamond–Blackfan Anemia and Severe Sinus Bradycardia in a Six-Month-Old White Infant: A Case Report and Literature Review
title Unusual Association of Diamond–Blackfan Anemia and Severe Sinus Bradycardia in a Six-Month-Old White Infant: A Case Report and Literature Review
title_full Unusual Association of Diamond–Blackfan Anemia and Severe Sinus Bradycardia in a Six-Month-Old White Infant: A Case Report and Literature Review
title_fullStr Unusual Association of Diamond–Blackfan Anemia and Severe Sinus Bradycardia in a Six-Month-Old White Infant: A Case Report and Literature Review
title_full_unstemmed Unusual Association of Diamond–Blackfan Anemia and Severe Sinus Bradycardia in a Six-Month-Old White Infant: A Case Report and Literature Review
title_short Unusual Association of Diamond–Blackfan Anemia and Severe Sinus Bradycardia in a Six-Month-Old White Infant: A Case Report and Literature Review
title_sort unusual association of diamond–blackfan anemia and severe sinus bradycardia in a six-month-old white infant: a case report and literature review
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9964496/
https://www.ncbi.nlm.nih.gov/pubmed/36837563
http://dx.doi.org/10.3390/medicina59020362
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