Jacobsen Syndrome with Hypoplastic Left Heart Syndrome: Outcome after Cardiac Transplantation

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.

Genetic Ethiology, Associated Anomalies in Fetal Aberrant Right Subclavian Artery: A Retrospective Cohort Study in a Tertiary Hospital

“…11q deletion, also known as Jacobsen syndrome, is a disorder of developmental delay, growth retardation, thrombocytopenia, dysmorphic features, cardiac abnormalities, and other congenital anomalies. 24 In our study, 11q24.2q25 deletion was detected with SNP array in one case with ARSA, pleural effusion, and ventricular septal defect. Prognosis and genetic counseling were given to the patient in the prenatal period and the patient decided to continue the pregnancy.…”

Jacobsen’s syndrome: case report

“…2024; 1: 27-35. https://doi.org/10.53529/2500-1175-2024-1-27-35 ВВЕДЕНИЕ. Синдром Якобсена (JBS; MIM 147791), также известный как синдром терминальной делеции 11q, представляет собой редкое генетическое заболевание, вызванное потерей непрерывного набора генов, расположенных на длинном плече 11-й хромосомы [1,2,3]. Заболевание встречается с частотой 1 на 100 000, при соотношении женщин и мужчин 2:1 [4,5].…”