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Congenital heart disease (CHD) is one of the most commonly occurring congenital anomalies in the general population. In patients with Diamond Blackfan anemia (DBA)—a rare inherited bone marrow failure syndrome—CHD represents ≈30% of all congenital anomalies.1 Affected individuals within multiplex families may have hematologic manifestations with or without CHD or have CHD alone. To support a link between these 2 conditions, we hypothesized that because CHD is common in the Diamond Blackfan Anemia Registry (DBAR) cohort, there are patients with occult DBA in the general CHD population. This study could reveal new knowledge regarding the pathogenesis of nonsyndromic CHD.DBA, characterized by hypoproliferative, proapoptotic erythropoiesis and red cell failure, birth defects, growth failure, and cancer predisposition, presents with hypoplastic anemia; median age, 2 months. Inactivating mutations in large or small subunit-associated RP (ribosomal protein) genes are found in 65% to 70% of cases. RP-associated DBA has autosomal dominant inheritance with variable penetrance or presents as sporadic new dominant mutations. A few cases are not RP associated.1,2 The DBAR of North America, established in 1991, captures patients in a nonbiased fashion.1 In the DBAR (n=744), 111 patients have CHD, representing a significantly greater prevalence of CHD in patients with DBA (n=111 of 744; prevalence, 1491.9/10 000; 14.9%) compared with the general population3 (n=3240 of 398 140; prevalence, 81.4/10 000; <1%; P <0.0001 [χ2]). The relative distribution of CHD in DBA is similar to the general population (Figure).Figure. Congenital heart disease (CHD) in Diamond Blackfan anemia (DBA). A , The CHD anomalies in the Diamond Blackfan …

circulation. genomic and precision medicine

Increased Prevalence of Congenital Heart Disease in Children With Diamond Blackfan Anemia Suggests Unrecognized Diamond Blackfan Anemia as a Cause of Congenital Heart Disease in the General Population