Search

Your search keyword '"Silvia, Favilli"' showing total 4 results
Start Over Author "Silvia, Favilli" Publisher elsevier
4 results on '"Silvia, Favilli"'

2. Neonatal heart failure and noncompaction/dilated cardiomyopathy from mucopolysaccharidosis. First description in literature

Author

Francesca Miselli, Alice Brambilla, Giovanni Battista Calabri, Silvia Favilli, Maria Chiara Sanvito, Luca Ragni, Francesco Torcetta, Katia Rossi, Maria Alice Donati, and Elena Procopio

Subjects
Mucopolysaccharidosis, Neonatal, Cardiac failure, Heart failure, Noncompaction, Cardiomyopathy, Medicine (General), R5-920, Biology (General), QH301-705.5
Abstract

Mucopolysaccharidosis are genetic disorders due to deficiency of lysosomal enzymes, resulting in abnormal glycosaminoglycans accumulation in several tissues. Heart involvement tends to be progressive and worsens with age. We describe the first case of mucopolysaccharidosis type I presenting with noncompaction/dilated-mixed cardiomyopathy and heart failure within neonatal period, which responded successfully to specific metabolic treatment. Cardiac function recovered after enzyme replacement therapy and hematopoietic stem cell transplantation, adding to the existing knowledge of the disease.

Published
2021
Full Text
View/download PDF

3. Kounis Syndrome Associated With Takotsubo Syndrome in an Adolescent With Peutz-Jeghers Syndrome

Author

Mariangela Manfredi, Silvia Gentile, Nicholas G. Kounis, Giulio Porcedda, Luciano De Simone, Mattia Giovannini, Francesca Mori, Chiara Di Filippo, Silvia Favilli, and Giovanni Battista Calabri

Subjects
Abdominal pain, acute heart failure, inotropic agents, Analgesic, Peutz–Jeghers syndrome, Kounis syndrome, Case Report, KS, Kounis syndrome, sIgE, specific immunoglobulin E, hs-cTnT, high-sensitivity cardiac troponin, cardiac magnetic resonance, Clinical Case, medicine, echocardiography, EF, ejection fraction, pulmonary edema, LV, left ventricular, Takotsubo syndrome, LAD, left anterior descending (coronary artery), business.industry, TTS, Takotsubo syndrome, Invagination, medicine.disease, Pulmonary edema, myocardial ischemia, Anesthesia, Vomiting, ECG, electrocardiogram, NT-proBNP, N-terminal pro–B-type natriuretic peptide, medicine.symptom, Cardiology and Cardiovascular Medicine, business
Abstract

We describe the case of a 15-year-old female patient with Peutz-Jeghers syndrome who presented with vomiting and abdominal pain secondary to ileoileal invagination. Initial analgesic treatment was not effective, and subsequent tramadol infusion resulted in clinical manifestations compatible with Kounis and Takotsubo syndromes. However, the patient had an excellent recovery. (Level of Difficulty: Advanced.), Central Illustration

Published
2021

4. Neonatal heart failure and noncompaction/dilated cardiomyopathy from mucopolysaccharidosis. First description in literature

Author

Silvia Favilli, Elena Procopio, Maria Chiara Sanvito, Francesca Miselli, Maria Alice Donati, Katia Rossi, Giovanni Battista Calabri, Alice Brambilla, Francesco Torcetta, and Luca Ragni

Subjects
Cardiac function curve, medicine.medical_specialty, Cardiac failure, Cardiomyopathy, medicine.medical_treatment, Mucopolysaccharidosis, Case Report, Heart failure, Hematopoietic stem cell transplantation, MPS, Mucopolysaccharidosis, 03 medical and health sciences, Mucopolysaccharidosis type I, 0302 clinical medicine, Endocrinology, ERT, Enzyme Replacement Therapy, Internal medicine, Neonatal, Genetics, Medicine, Noncompaction, LVEV, Left Ventricular Ejection Fraction, Molecular Biology, lcsh:QH301-705.5, 0303 health sciences, HSCT, Hematopoietic Stem Cell Transplantation, lcsh:R5-920, business.industry, 030305 genetics & heredity, Dilated cardiomyopathy, Enzyme replacement therapy, GAGs, Glycosaminoglycans, medicine.disease, LV, Left Ventricular, lcsh:Biology (General), Cardiology, business, lcsh:Medicine (General), 030217 neurology & neurosurgery
Abstract

Mucopolysaccharidosis are genetic disorders due to deficiency of lysosomal enzymes, resulting in abnormal glycosaminoglycans accumulation in several tissues. Heart involvement tends to be progressive and worsens with age. We describe the first case of mucopolysaccharidosis type I presenting with noncompaction/dilated-mixed cardiomyopathy and heart failure within neonatal period, which responded successfully to specific metabolic treatment. Cardiac function recovered after enzyme replacement therapy and hematopoietic stem cell transplantation, adding to the existing knowledge of the disease., Highlights • MPS can present with acute cardiac failure and cardiomyopathy within neonatal period. • Cardiomyopathies associated with MPS include also noncompaction phenotypes. • Heart failure due to MPS can respond successfully to specific metabolic treatment. • Consider complete metabolic tests in case of inexplicable neonatal heart failure.

Published
2021

Catalog

Books, media, physical & digital resources
See catalog results