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

• Published in: Medicina (Kaunas, Lithuania) Vol. 59; no. 2; p. 362
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 01-02-2023; MDPI
• Subjects: Anemia; Anemia, Diamond-Blackfan - diagnosis; Anemia, Diamond-Blackfan - genetics; Anemia, Diamond-Blackfan - therapy; Anesthesia; Blood pressure; Bone Marrow; Bradycardia; Cardiac arrhythmia; Cardiomyopathy; Case reports; Catheters; Complications and side effects; Congenital diseases; Diagnosis; Diamond–Blackfan anemia; Diarrhea; Families & family life; Female; Genes; Genetic aspects; Genetic disorders; Heart rate; Humans; Infant; Metabolism; Mutation; Patients; Pediatric research; Pediatrics; rare diseases association; Review; Ribosomal Proteins - genetics; Risk factors; severe persistent sinus bradycardia; Sinuses; Stem cells; Steroids; Transplants & implants; White; Romania; rare diseases association; Diamond–Blackfan anemia; severe persistent sinus bradycardia
• ISSN: 1648-9144; 1010-660X; 1648-9144
• DOI: 10.3390/medicina59020362

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
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.