{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:53:08Z","timestamp":1760147588456,"version":"build-2065373602"},"reference-count":57,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2023,2,14]],"date-time":"2023-02-14T00:00:00Z","timestamp":1676332800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Medicina"],"abstract":"<jats:p>Diamond\u2013Blackfan anemia is a rare (6\u20137 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\u2013Blackfan 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 &lt; 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\u2019s 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.<\/jats:p>","DOI":"10.3390\/medicina59020362","type":"journal-article","created":{"date-parts":[[2023,2,15]],"date-time":"2023-02-15T02:31:23Z","timestamp":1676428283000},"page":"362","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Unusual Association of Diamond\u2013Blackfan Anemia and Severe Sinus Bradycardia in a Six-Month-Old White Infant: A Case Report and Literature Review"],"prefix":"10.3390","volume":"59","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4140-0492","authenticated-orcid":false,"given":"Stefana Maria","family":"Moisa","sequence":"first","affiliation":[{"name":"Pediatrics Department, Faculty of Medicine, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 700115 Iasi, Romania"},{"name":"\u201cSfanta Maria\u201d Clinical Emergency Hospital for Children, 700309 Iasi, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7015-0085","authenticated-orcid":false,"given":"Elena-Lia","family":"Spoiala","sequence":"additional","affiliation":[{"name":"Pediatrics Department, Faculty of Medicine, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 700115 Iasi, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura Mihaela","family":"Trandafir","sequence":"additional","affiliation":[{"name":"Pediatrics Department, Faculty of Medicine, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 700115 Iasi, Romania"},{"name":"\u201cSfanta Maria\u201d Clinical Emergency Hospital for Children, 700309 Iasi, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6713-4244","authenticated-orcid":false,"given":"Lacramioara Ionela","family":"Butnariu","sequence":"additional","affiliation":[{"name":"\u201cSfanta Maria\u201d Clinical Emergency Hospital for Children, 700309 Iasi, Romania"},{"name":"Genetics Department, Faculty of Medicine, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 700115 Iasi, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9825-6711","authenticated-orcid":false,"given":"Ingrith-Crenguta","family":"Miron","sequence":"additional","affiliation":[{"name":"Pediatrics Department, Faculty of Medicine, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 700115 Iasi, Romania"},{"name":"\u201cSfanta Maria\u201d Clinical Emergency Hospital for Children, 700309 Iasi, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonela","family":"Ciobanu","sequence":"additional","affiliation":[{"name":"\u201cSfanta Maria\u201d Clinical Emergency Hospital for Children, 700309 Iasi, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adriana","family":"Mocanu","sequence":"additional","affiliation":[{"name":"Pediatrics Department, Faculty of Medicine, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 700115 Iasi, Romania"},{"name":"\u201cSfanta Maria\u201d Clinical Emergency Hospital for Children, 700309 Iasi, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anca","family":"Ivanov","sequence":"additional","affiliation":[{"name":"Pediatrics Department, Faculty of Medicine, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 700115 Iasi, Romania"},{"name":"\u201cSfanta Maria\u201d Clinical Emergency Hospital for Children, 700309 Iasi, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0673-0736","authenticated-orcid":false,"given":"Carmen Iulia","family":"Ciongradi","sequence":"additional","affiliation":[{"name":"\u201cSfanta Maria\u201d Clinical Emergency Hospital for Children, 700309 Iasi, Romania"},{"name":"2nd Department of Surgery\u2014Pediatric Surgery and Orthopedics, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 700115 Iasi, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8813-4112","authenticated-orcid":false,"given":"Ioan","family":"Sarbu","sequence":"additional","affiliation":[{"name":"\u201cSfanta Maria\u201d Clinical Emergency Hospital for Children, 700309 Iasi, Romania"},{"name":"2nd Department of Surgery\u2014Pediatric Surgery and Orthopedics, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 700115 Iasi, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anamaria","family":"Ciubara","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, \u201cDunarea de Jos\u201d University of Medicine and Pharmacy, 800008 Galati, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmen Daniela","family":"Rusu","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 700115 Iasi, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5676-0864","authenticated-orcid":false,"given":"Alina Costina","family":"Luca","sequence":"additional","affiliation":[{"name":"Pediatrics Department, Faculty of Medicine, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 700115 Iasi, Romania"},{"name":"\u201cSfanta Maria\u201d Clinical Emergency Hospital for Children, 700309 Iasi, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3424-1588","authenticated-orcid":false,"given":"Alexandru","family":"Burlacu","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 700115 Iasi, Romania"},{"name":"Institute of Cardiovascular Diseases \u201cProf. Dr. George I.M. Georgescu\u201d, 700503 Iasi, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,2,14]]},"reference":[{"key":"ref_1","unstructured":"Lanzkowsky, P., Lipton, J., and Fish, J.D. (2016). Lanzkowsky\u2019s Manual of Pediatric Hematology and Oncology, Elsevier."},{"key":"ref_2","first-page":"67","article-title":"Diamond Blackfan Anemia: Genetics, Pathogenesis, Diagnosis and Treatment","volume":"30","author":"Engidaye","year":"2019","journal-title":"eJIFCC"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"664","DOI":"10.1016\/j.ejmg.2017.10.017","article-title":"Molecular approaches to diagnose Diamond-Blackfan anemia: The EuroDBA experience","volume":"61","author":"Albrecht","year":"2018","journal-title":"Eur. J. Med. Genet."},{"key":"ref_4","doi-asserted-by":"crossref","unstructured":"Mace\u010dkov\u00e1, Z., Kub\u00ed\u010dkov\u00e1, A., De Sanctis, J.B., and Hajd\u00fach, M. (2022). 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