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Sixty-three patients who had undergone a BMT at age 18 years were evaluated cross-sectionally to determine cardiac function as well as the long-term prevalence, types, severity, and risk factors of cardiac abnormalities. Patients were 1 year post-BMT and were evaluated by history, resting ECG, echocardiography (ECHO), exercise treadmill test, chest X-ray, pulmonary function tests and review of past cardiac studies. Patients were assigned a New York Heart Association (NYHA) class based on an activity and cardiac symptoms questionnaire. Pretransplant preparative regimens included high-dose cyclophosphamide (CY) and total body/lymphoid irradiation (n = 38), CY in combination with other chemotherapy (n = 22), and other drug combinations (n = 3). Forty patients (63.5%) had received prior anthracyclines (median 307 mg/m2). Patients’ ages ranged from 1.9 to 32 years (median 10.9 years) with median follow-up of 3.3 years (range 1–16.3 years). Twenty-six patients (41.3%) had a cardiac abnormality detected at follow-up. In 21 patients the abnormal finding had not been present at the pre-BMT evaluation. Ten patients (16.4%) had resting ECG abnormalities. Left ventricular ejection fraction (LVEF) by ECHO was mildly decreased to 50–54% in three patients and markedly decreased to 40% in one patient. Only one patient (1.7%) developed a mildly abnormal shortening fraction of 27%. All patients with ECHO abnormalities were asymptomatic. Twenty-three of 31 patients 9 years of age (74%) who underwent a treadmill exercise test had a borderline or abnormal response to exercise. There was no correlation between demographic factors, previous therapy, preparative regimen or length of follow-up with the post-BMT ECG, ECHO and treadmill abnormalities. Overall, eight patients (12.7%) were symptomatic and NYHA class II or III, and all had abnormal exercise tests. The presence of symptoms and NYHA class were predictors for oxygen... [ABSTRACT FROM AUTHOR]

OBJECTIVES: Leukocyte adhesion deficiency is a rare primary immune disorder caused by defects of the CD18 beta-integrin molecule on immune cells. The condition usually presents in early infancy and is characterized by deep tissue infections, leukocytosis with impaired formation of pus, and delayed wound healing. Allogeneic hematopoietic stem-cell transplantation offers the possibility of curative therapy, and with patient numbers at any individual center being limited, we surveyed the transplant experience at 14 centers worldwide. METHODS: The course of 36 children with a confirmed diagnosis of leukocyte adhesion deficiency who underwent hematopoietic stem-cell transplantation between 1993 and 2007 was retrospectively analyzed. Data were collected by the registries of the European Society for Immunodeficiencies/European Group for Blood and Marrow Transplantation, and the Center for International Blood and Marrow Transplant Research. RESULTS: At a median follow-up of 62 months (extending to 14 years), the overall survival rate was 75%. Myeloablative conditioning regimens were used in 28 patients, and reduced-intensity conditioning in 8 patients, with no deaths in this subgroup. Survival rates after matched family donor and unrelated donor transplants were similar, with 11 of 14 matched family donor and 12 of 14 unrelated donor recipients alive; mortality was greatest after haploidentical transplants, after which 4 of 8 children did not survive. Twenty-seven transplant recipients were alive, with full donor engraftment in 17 cases, mixed multilineage chimerism in 7 patients, and mononuclear cell-restricted chimerism in an additional 3 cases. CONCLUSIONS: Hematopoietic stem-cell transplantation offers long-term benefit in leukocyte adhesion deficiency and should be considered as an early therapeutic option if a suitable HLA-matched stem-cell donation is available. Reduced-intensity conditioning was particularly safe, and mixed-donor chimerism seems sufficient to prevent significant symptoms, although careful long-term monitoring will be required for these patients. [ABSTRACT FROM AUTHOR]