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Search: authors:"Giuseppe Limongelli"

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Stress echo 2020: the international stress echo study in ischemic and non-ischemic heart disease

Rigo Nicola Gaibazzi Giuseppe Limongelli Giuseppe Pacileo Maria Grazia Andreassi 0 Bruno Pinamonti Laura Massa Marco A. R. Torres Marcelo H. Miglioranza Clarissa Borguezan Daros José Luis de Castro e

LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies

Background Diagnosis within RASopathies still represents a challenge. Nevertheless, many efforts have been made by clinicians to identify specific clinical features which might help in differentiating one disorder from another. Here, we describe a child initially diagnosed with Neurofibromatosis-Noonan syndrome. The follow-up of the proband, the clinical evaluation of his father ...

Complete atrioventricular canal

Complete atrioventricular canal (CAVC), also referred to as complete atrioventricular septal defect, is characterised by an ostium primum atrial septal defect, a common atrioventricular valve and a variable deficiency of the ventricular septum inflow. CAVC is an uncommon congenital heart disease, accounting for about 3% of cardiac malformations. Atrioventricular canal occurs in two ...

Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy

Background We report an Italian family in which the proband showed a severe phenotype characterized by the association of congenital fiber type disproportion (CFTD) with a left ventricular non-compaction cardiomyopathy (LVNC). This study was focused on the identification of the responsible gene/s. Methods and results Using the whole-exome sequencing approach, we identified the ...