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  • Cambridge University Press (CUP)  (3)
  • 1
    Online Resource
    Online Resource
    Cambridge University Press (CUP) ; 2015
    In:  Cardiology in the Young Vol. 25, No. 4 ( 2015-04), p. 773-776
    In: Cardiology in the Young, Cambridge University Press (CUP), Vol. 25, No. 4 ( 2015-04), p. 773-776
    Abstract: We report on a boy with severe pulmonary arterial hypertension associated with mucolipidosis, a rare lysosomal storage disorder. During diagnostic catheterisation, we found increased endothelin-1 levels, but normal big endothelin-1-levels (the precursor form of endothelin-1), which suggests impaired degradation of endothelin-1 rather than increased synthesis. As endothelin-1 degradation takes place in the lysosome, it appears likely that lysosomal dysfunction caused by the underlying disease contributes to the development of pulmonary arterial hypertension in this patient.
    Type of Medium: Online Resource
    ISSN: 1047-9511 , 1467-1107
    Language: English
    Publisher: Cambridge University Press (CUP)
    Publication Date: 2015
    detail.hit.zdb_id: 2060876-7
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  • 2
    In: Cardiology in the Young, Cambridge University Press (CUP), Vol. 25, No. 7 ( 2015-10), p. 1300-1305
    Abstract: Dilated cardiomyopathy is a leading cause of cardiac death in children. Approximately 30% of children die or need cardiac transplantation in the first year after establishing the diagnosis. New strategies are needed to improve the outcome in this high-risk patient population. Method and results We present our experience in 38 patients below the age of three years, who were diagnosed with dilated cardiomyopathy and who were treated at our institution between 2006 and 2012. The treatment strategy involved institution of β-blockers and angiotensin-converting enzyme inhibitors as soon as feasible. In selected cases, pulmonary artery banding or intracoronary autologous bone marrow-derived cell therapy was performed. The median age at presentation was six months (range 1–26 months). The median follow-up age was 16 months (range 2–80 months). Kaplan–Meier analysis of survival after dilated cardiomyopathy diagnosis revealed a one-year survival of 97% and a five-year survival of 86%. The rate of freedom from death or heart transplantation was 82% at one year and 69% at five years. Surviving patients who were free of transplantation, at the follow-up at 25 months (3–80 months), showed a significant improvement in left ventricular ejection fraction (from 19±11 to 46±16%) and left ventricular end-diastolic diameter (z-score from 4.6±2.4 to 1.4±1.6). In addition, the levels of B-type natriuretic peptide improved significantly (from 3330±3840 to 171±825 pg/ml). Conclusion Our data suggest that the clinical approach described here may result in a markedly improved medium-term outcome in young children with dilated cardiomyopathy. Further studies are required to evaluate whether these approaches reduce end-points such as transplantation or death.
    Type of Medium: Online Resource
    ISSN: 1047-9511 , 1467-1107
    Language: English
    Publisher: Cambridge University Press (CUP)
    Publication Date: 2015
    detail.hit.zdb_id: 2060876-7
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
  • 3
    Online Resource
    Online Resource
    Cambridge University Press (CUP) ; 2006
    In:  Cardiology in the Young Vol. 16, No. 6 ( 2006-12), p. 572-578
    In: Cardiology in the Young, Cambridge University Press (CUP), Vol. 16, No. 6 ( 2006-12), p. 572-578
    Abstract: Introduction: Recurrent but infrequent syncopes represent a diagnostic challenge, since they frequently remain unexplained despite extensive investigations. This applies specifically for patients who carry an increased risk of potentially lifethreatening arrhythmias, either due to congenital cardiac disease or primary electrical disorders. Implantable loop recorders permit long-term electrocardiographic monitoring. Experience with these devices is still limited in children. Patients and methods: Between January 1999 and August 2005, 12 patients underwent implantation of a loop recorder in our tertiary referral centre. The mean age was 10.9 years, with a range from 2 to 17 years. Of the patients, 6 had structural disease, 3 had primary electrical abnormalities, and 3 had no cardiovascular disease. Results: Resyncope occured in 9 of the 12 patients. Arrhythmic origin of the syncope was diagnosed in 4 of these patients. The events recorded were ventricular fibrillation in 2, intermittent asystole in 1, and pacemaker-syndrome in the other patient. Malignant arrhythmia was ruled out in the remaining 5 patients. There were no complications related to implantation of the loop recorder, and the mean duration until explantation was 8.3 months. Conclusions: Based on our experience, we suggest that implantation of a loop recorder represents an additional tool for a selected group of children. Due to its invasive nature, it should be restricted to patients at high risk, or those in which there is substantial clinical suspicion of the likelihood of serious arrhythmias when conventional testing has been inconclusive. In this cohort, implantation of the loop recorder either helps to establish the correct diagnosis, or to exclude an arrhythmic event, thus avoiding unnecessary escalation of therapy and providing reassurance for the family.
    Type of Medium: Online Resource
    ISSN: 1047-9511 , 1467-1107
    Language: English
    Publisher: Cambridge University Press (CUP)
    Publication Date: 2006
    detail.hit.zdb_id: 2060876-7
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
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