ArticleJournal of cardiovascular development and disease2022
Jacobsen Syndrome with Hypoplastic Left Heart Syndrome: Outcome after Cardiac Transplantation.
Article in Journal of cardiovascular development and disease, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed, 5 citations in OpenAlex.
- Genetic etiology and phenotypic characteristics of fetuses with 11q deletion syndrome (11q23.3-q25).Experimental and therapeutic medicine · 2026Article
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4 authors at 2 institutions in 1 country.
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Abstract
Jacobsen syndrome (JS) is a rare syndrome caused by a deletion of chromosome 11q. We report a patient with JS and hypoplastic left heart syndrome (HLHS) who required cardiac transplantation. She had many of the recognized morphological features in addition to immunological (lymphopenia) and hematological (thrombocytopenia) issues. The patient underwent a Norwood procedure with a modified Blalock-Taussig shunt (MBTS) and subsequently a Glenn procedure at six months of age. She developed desaturation, with severe tricuspid regurgitation and right ventricular dysfunction, and underwent heart transplantation at 7 months of age. After the transplant, she was hospitalized several times for severe infections. The diagnosis of Jacobsen syndrome came 2 months after transplant. Now, 5 years post-transplant, she is in relatively good health-her heart is functioning normally, her hospitalization rate is getting lower, and her immunological profile is stable.
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