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Giuseppe Limongelli - One of the best experts on this subject based on the ideXlab platform.

  • Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome.
    American Journal of Medical Genetics Part A, 2011
    Co-Authors: Angela E. Lin, Mark E. Alexander, Steven D. Colan, Bronwyn Kerr, Katherine A. Rauen, Jacqueline A. Noonan, Jeanne M. Baffa, Elizabeth Hopkins, Katia Sol-church, Giuseppe Limongelli
    Abstract:

    Cardiovascular abnormalities are important features of Costello syndrome and other Ras/MAPK pathway syndromes ("RASopathies"). We conducted clinical, pathological and molecular analyses of 146 patients with an HRAS mutation including 61 enrolled in an ongoing longitudinal study and 85 from the literature. In our study, the most common (84%) HRAS mutation was p.G12S. A congenital heart defect (CHD) was present in 27 of 61 patients (44%), usually non-progressive valvar pulmonary stenosis. Hypertrophic cardiomyopathy (HCM), typically subaortic septal hypertrophy, was noted in 37 (61%), and 5 also had a CHD (14% of those with HCM). HCM was chronic or progressive in 14 (37%), stabilized in 10 (27%), and resolved in 5 (15%) patients with HCM; follow-up data was not available in 8 (22%). Atrial Tachycardia occurred in 29 (48%). Valvar pulmonary stenosis rarely progressed and Atrial septal defect was uncommon. Among those with HCM, the likelihood of progressing or remaining stable was similar (37%, 41% respectively). The observation of myocardial fiber disarray in 7 of 10 (70%) genotyped specimens with Costello syndrome is consistent with sarcomeric dysfunction. Multifocal Atrial Tachycardia may be distinctive for Costello syndrome. Potentially serious Atrial Tachycardia may present in the fetus, and may continue or worsen in about one-fourth of those with arrhythmia, but is generally self-limited in the remaining three-fourths of patients. Physicians should be aware of the potential for rapid development of severe HCM in infants with Costello syndrome, and the need for cardiovascular surveillance into adulthood as the natural history continues to be delineated.

  • Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome.
    'Wiley', 2011
    Co-Authors: Angela E. Lin, Mark E. Alexander, Steven D. Colan, Bronwyn Kerr, Katherine A. Rauen, Jeanne M. Baffa, Elizabeth Hopkins, Katia Sol-church, Jacqueline Noonan, Giuseppe Limongelli
    Abstract:

    Cardiovascular abnormalities are important features of Costello syndrome and other Ras/MAPK pathway syndromes ("RASopathies"). We conducted clinical, pathological and molecular analyses of 146 patients with an HRAS mutation including 61 enrolled in an ongoing longitudinal study and 85 from the literature. In our study, the most common (84%) HRAS mutation was p.G12S. A congenital heart defect (CHD) was present in 27 of 61 patients (44%), usually non-progressive valvar pulmonary stenosis. Hypertrophic cardiomyopathy (HCM), typically subaortic septal hypertrophy, was noted in 37 (61%), and 5 also had a CHD (14% of those with HCM). HCM was chronic or progressive in 14 (37%), stabilized in 10 (27%), and resolved in 5 (15%) patients with HCM; follow-up data was not available in 8 (22%). Atrial Tachycardia occurred in 29 (48%). Valvar pulmonary stenosis rarely progressed and Atrial septal defect was uncommon. Among those with HCM, the likelihood of progressing or remaining stable was similar (37%, 41% respectively). The observation of myocardial fiber disarray in 7 of 10 (70%) genotyped specimens with Costello syndrome is consistent with sarcomeric dysfunction. Multifocal Atrial Tachycardia may be distinctive for Costello syndrome. Potentially serious Atrial Tachycardia may present in the fetus, and may continue or worsen in about one-fourth of those with arrhythmia, but is generally self-limited in the remaining three-fourths of patients. Physicians should be aware of the potential for rapid development of severe HCM in infants with Costello syndrome, and the need for cardiovascular surveillance into adulthood as the natural history continues to be delineated. © 2011 Wiley-Liss, Inc

Abdul-kader Souid - One of the best experts on this subject based on the ideXlab platform.

  • Persistent wandering Atrial pacemaker after epinephrine overdosing – a case report
    BMC Pediatrics, 2013
    Co-Authors: Elhadi H Aburawi, Hassib Narchi, Abdul-kader Souid
    Abstract:

    Background Long-term complications of sympathomimetic drug overdosing have not been adequately investigated in infants and young children. Despite reports discouraging their use in children, these formulations are frequently administered for “cold-like symptoms”. Their frequent adverse events are different forms of arrhythmias, including Multifocal Atrial Tachycardia. Case presentation A 3-year-old toddler developed Multifocal Atrial Tachycardia following an iatrogenic overdose of epinephrine accidentally administered intravenously. His ECG showed wandering Atrial pacemaker (p-waves with different origins and configurations) that persisted for at least one year. This event demonstrated the sensitivity of young children to the sympathomimetic drugs, especially overdosing. Conclusions Health care providers and parents should be warned of toxicities associated with sympathomimetic drug overdosing. Future studies are needed to determine whether wandering Atrial pacemaker is a potential long-term complication of high-dose sympathomimetics.

  • persistent wandering Atrial pacemaker after epinephrine overdosing a case report
    BMC Pediatrics, 2013
    Co-Authors: Elhadi H Aburawi, Hassib Narchi, Abdul-kader Souid
    Abstract:

    Background Long-term complications of sympathomimetic drug overdosing have not been adequately investigated in infants and young children. Despite reports discouraging their use in children, these formulations are frequently administered for “cold-like symptoms”. Their frequent adverse events are different forms of arrhythmias, including Multifocal Atrial Tachycardia.

Steven Borzak - One of the best experts on this subject based on the ideXlab platform.

Arun Sridhar Mahankali - One of the best experts on this subject based on the ideXlab platform.

James Mccord - One of the best experts on this subject based on the ideXlab platform.