Full Text Journal Articles by
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Clinical Spectrum Of CACNA1C Variants, Revisited

Anwar Baban, Bernadette Corica, Maria Gnazzo, Federica Calì, Nicoletta Cantarutti, Daniela Righi, Corrado Di Mambro, Massimo Stefano Silvetti, Bruno Dallapiccola, Antonio Novelli, Ahmad Amin, Fabrizio Drago,

Abstract Background CACNA1C is a gene encoding the CaV1.2 calcium channel and several cardiac conditions are potentially associated with pathogenic variants in this gene. The aim of this study is to explore genotype-phenotype correlations related to CACNA1C ever described variants and vast phenotypic spectrum.MethodsWe analyzed 102 patients with CACNA1C variants ... Read more >>

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Differences in morbidity and mortality in Down syndrome are related to the type of congenital heart defect.

Anwar Baban, Nicole Olivini, Nicoletta Cantarutti, Federica Calì, Carmen Vitello, Diletta Valentini, Rachele Adorisio, Giulio Calcagni, Viola Alesi, Corrado Di Mambro, Alberto Villani, Bruno Dallapiccola, Maria Cristina Digilio, Bruno Marino, Adriano Carotti, Fabrizio Drago,

Morbidity and mortality in Down syndrome (DS) are mainly related to congenital heart defects (CHDs). While CHDs with high prevalence in DS (typical CHDs), such as endocardial cushion defects, have been extensively described, little is known about the impact of less common CHDs (atypical CHDs), such as aortic coarctation and ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, 182(6):1342-1350]

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2019 American Heart Association and American Red Cross presyncope update.

Fabrizio Drago,

J. Pediatr. (The Journal of pediatrics)
[2020, 220:264-267]

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Psychosocial and environmental determinants of child cognitive development in rural south africa and tanzania: findings from the mal-ed cohort.

Fabrizio Drago, Rebecca J Scharf, Angelina Maphula, Emanuel Nyathi, Tjale C Mahopo, Erling Svensen, Estomih Mduma, Pascal Bessong, Elizabeth T Rogawski McQuade,

BACKGROUND:Approximately 66% of children under the age of 5 in Sub-Saharan African countries do not reach their full cognitive potential, the highest percentage in the world. Because the majority of studies investigating child cognitive development have been conducted in high-income countries (HICs), there is limited knowledge regarding the determinants of ... Read more >>

BMC Public Health (BMC public health)
[2020, 20(1):505]

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Impact of Age and Sex on Cardiovascular Magnetic Resonance Measurements: After Tetralogy of Fallot Repair.

Benedetta Leonardi, Fabrizio Drago, Christopher A Caldarone, Nagib Dahdah, Frédéric Dallaire, Christian Drolet, Jasmine Grewal, Edward J Hickey, Paul Khairy, Gerald Lebovic, Brian W McCrindle, Syed Najaf Nadeem, Ming-Yen Ng, Edythe B Tham, Judith Therrien, Alexander Van De Bruaene, Isabelle F Vonder Muhll, Andrew E Warren, Kenichiro Yamamura, Michael E Farkouh, Rachel M Wald,

JACC Cardiovasc Imaging (JACC. Cardiovascular imaging)
[2020, :]

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Left ventricular (LV) pacing in newborns and infants: Echo assessment of LV systolic function and synchrony at 5-year follow-up.

Massimo Stefano Silvetti, Giulia Muzi, Marta Unolt, Carolina D'Anna, Fabio Anselmo Saputo, Corrado Di Mambro, Sonia Albanese, Antonio Ammirati, Lucilla Ravà, Fabrizio Drago,

BACKGROUND:Small retrospective studies reported that left ventricular (LV) pacing is likely to preserve LV function in children with isolated congenital complete atrioventricular block (CCAVB). The aim of this study was to prospectively evaluate LV contractility and synchrony in a cohort of neonates/infants at pacemaker implantation and follow-up. METHODS:Patients with CCAVB ... Read more >>

Pacing Clin Electrophysiol (Pacing and clinical electrophysiology : PACE)
[2020, :]

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A Novel Mobile Phone App Intervention With Phone Coaching to Reduce Symptoms of Depression in Survivors of Women's Cancer: Pre-Post Pilot Study.

Philip I Chow, Fabrizio Drago, Erin M Kennedy, Wendy F Cohn,

BACKGROUND:Psychological distress is a major issue among survivors of women's cancer who face numerous barriers to accessing in-person mental health treatments. Mobile phone app-based interventions are scalable and have the potential to increase access to mental health care among survivors of women's cancer worldwide. OBJECTIVE:This study aimed to evaluate the ... Read more >>

JMIR Cancer (JMIR cancer)
[2020, 6(1):e15750]

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Italian recommendations for the management of pediatric patients under twelve years of age with suspected or manifest Brugada syndrome.

Fabrizio Drago, Raffaella Bloise, Gabriele Bronzetti, Loira Leoni, Giulio Porcedda, Berardo Sarubbi, Paolo De Filippo, Simone Gulletta, Marco Scaglione, ,

Minerva Pediatr. (Minerva pediatrica)
[2020, 72(1):1-13]

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An International Multicenter Evaluation of Type 5 Long QT Syndrome: A Low Penetrant Primary Arrhythmic Condition.

Jason D Roberts, S Yukiko Asaki, Andrea Mazzanti, J Martijn Bos, Izabela Tuleta, Alison R Muir, Lia Crotti, Andrew D Krahn, Valentina Kutyifa, M Benjamin Shoemaker, Christopher L Johnsrude, Takeshi Aiba, Luciana Marcondes, Anwar Baban, Sharmila Udupa, Brynn Dechert, Peter Fischbach, Linda M Knight, Eric Vittinghoff, Deni Kukavica, Birgit Stallmeyer, John R Giudicessi, Carla Spazzolini, Keiko Shimamoto, Rafik Tadros, Julia Cadrin-Tourigny, Henry J Duff, Christopher S Simpson, Thomas M Roston, Yanushi D Wijeyeratne, Imane El Hajjaji, Maisoon D Yousif, Lorne J Gula, Peter Leong-Sit, Nikhil Chavali, Andrew P Landstrom, Gregory M Marcus, Sven Dittmann, Arthur A M Wilde, Elijah R Behr, Jacob Tfelt-Hansen, Melvin M Scheinman, Marco V Perez, Juan Pablo Kaski, Robert M Gow, Fabrizio Drago, Peter F Aziz, Dominic J Abrams, Michael H Gollob, Jonathan R Skinner, Wataru Shimizu, Elizabeth S Kaufman, Dan M Roden, Wojciech Zareba, Peter J Schwartz, Eric Schulze-Bahr, Susan P Etheridge, Silvia G Priori, Michael J Ackerman,

BACKGROUND:Insight into type 5 long QT syndrome (LQT5) has been limited to case reports and small family series. Improved understanding of the clinical phenotype and genetic features associated with rare KCNE1 variants implicated in LQT5 was sought through an international multicenter collaboration. METHODS:Patients with either presumed autosomal dominant LQT5 (N ... Read more >>

Circulation (Circulation)
[2020, 141(6):429-439]

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Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis.

Anwar Baban, Rachele Adorisio, Bernadette Corica, Cristiano Rizzo, Federica Calì, Michela Semeraro, Roberta Taurisano, Monia Magliozzi, Rosalba Carrozzo, Francesco Parisi, Bruno Dallapiccola, Frédéric M Vaz, Fabrizio Drago, Carlo Dionisi-Vici,

Infantile onset cardiomyopathies are highly heterogeneous with several phenocopies compared with adult cardiomyopathies. Multidisciplinary management is essential in determining the underlying etiology in children's cardiomyopathy. Elevated urinary excretion of 3-methylglutaconic acid (3-MGA) is a useful tool in identifying the etiology in some metabolic cardiomyopathy. Here, we report the delayed appearance ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, 182(1):64-70]

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Mapping of low-voltage bridges with a high-density multipolar catheter in a child with atrioventricular nodal reentry tachycardia.

Fabrizio Drago, Camilla Calvieri, Greta Allegretti, Massimo Stefano Silvetti,

HeartRhythm Case Rep (HeartRhythm case reports)
[2020, 6(1):8-10]

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SOS1 mutations in Noonan syndrome: Cardiomyopathies and not only congenital heart defects! Report of six patients including two novel variants and literature review.

Anwar Baban, Nicole Olivini, Francesca Romana Lepri, Federica Calì, Mafalda Mucciolo, Maria C Digilio, Giulio Calcagni, Corrado di Mambro, Bruno Dallapiccola, Rachele Adorisio, Antonio Novelli, Fabrizio Drago,

Noonan syndrome (NS) is caused by mutations in more than 10 genes, mainly PTPN11, SOS1, RAF1, and RIT1. Congenital heart defects and cardiomyopathy (CMP) are associated with significant morbidity and mortality in NS. Although hypertrophic CMP has "classically" been reported in association to RAF1, RIT1, and PTPN11 variants, SOS1 appears ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2019, 179(10):2083-2090]

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Examining the feasibility, acceptability, and potential utility of mobile distress screening in adult cancer patients.

Philip I Chow, Fabrizio Drago, Erin M Kennedy, Nicole Chambers, Christina Sheffield, Wendy F Cohn,

OBJECTIVE:A common method of distress monitoring in cancer patients relies on static and retrospective data collected in-person at the time of a health care provider appointment. Relatively little work has examined the potential usefulness of mobile distress monitoring using cancer patients' smartphones. The current study deployed longitudinal distress monitoring using ... Read more >>

Psychooncology (Psycho-oncology)
[2019, 28(9):1887-1893]

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A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome.

Viola Alesi, Sara Loddo, Federica Calì, Valeria Orlando, Silvia Genovese, Daniele Ferretti, Chiara Calacci, Giusy Calvieri, Roberto Falasca, Lucia Ulgheri, Fabrizio Drago, Bruno Dallapiccola, Anwar Baban, Antonio Novelli,

Only a few individuals with 12q15 deletion have been described, presenting with a disorder characterized by learning disability, developmental delay, nasal speech, and hypothyroidism. The smallest region of overlap for this syndrome was included in a genomic segment spanning CNOT2, KCNMB4, and PTPRB genes. We report on an additional patient ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2019, 179(8):1615-1621]

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Hidden Complexity in Routine Adult and Pediatric Arrhythmias Interpretation: The Future of Precision Electrocardiology.

Fabio M Leonelli, Roberto De Ponti, Fabrizio Drago, Anwar Baban, Daniel Cortez, Massimo Griselli, Giuseppe Bagliani,

Classic ECG interpretation is based on identification of waveforms and deductive analysis of the electrical events the waveforms represent. The more in depth the understanding of electrophysiologic cellular interactions, the more precise the interpretation of ECG tracing. Surface ECG has limitations; yet, it is accurate in representing myocytes' pathologic behaviors. ... Read more >>

Card Electrophysiol Clin (Cardiac electrophysiology clinics)
[2019, 11(2):391-404]

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Left pulmonary artery in 22q11.2 deletion syndrome. Echocardiographic evaluation in patients without cardiac defects and role of Tbx1 in mice.

Gioia Mastromoro, Giulio Calcagni, Paolo Versacci, Carolina Putotto, Marcello Chinali, Caterina Lambiase, Marta Unolt, Elena Pelliccione, Silvia Anaclerio, Cinzia Caprio, Sara Cioffi, Marchesa Bilio, Anwar Baban, Fabrizio Drago, Maria Cristina Digilio, Bruno Marino, Antonio Baldini,

INTRODUCTION AND HYPOTHESIS:Patients with 22q11 deletion syndrome (22q11.2DS) present, in about 75% of cases, typical patterns of cardiac defects, with a particular involvement on the ventricular outflow tract and great arteries. However, in this genetic condition the dimensions of the pulmonary arteries (PAs) never were specifically evaluated. We measured both ... Read more >>

PLoS ONE (PloS one)
[2019, 14(4):e0211170]

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Heart rate reduction strategy using ivabradine in end-stage Duchenne cardiomyopathy.

Rachele Adorisio, Camilla Calvieri, Nicoletta Cantarutti, Adele D'Amico, Michela Catteruccia, Enrico Bertini, Anwar Baban, Sergio Filippelli, Gianluigi Perri, Antonio Amodeo, Fabrizio Drago,

BACKGROUND:End-stage dilated cardiomyopathy (DCM) is the leading cause of morbidity and mortality in patients with Duchenne Muscular Dystrophy (DMD). No studies are available on the effect of ivabradine on long-term outcomes in end-stage DMD/DCM. METHODS:We prospectively enrolled a cohort of end-stage DMD/DCM patients with LV ejection fraction <40%, on chronic ... Read more >>

Int. J. Cardiol. (International journal of cardiology)
[2019, 280:99-103]

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Left Pulmonary Artery in 22q11.2 deletion syndrome. Echocardiographic evaluation in patients without cardiac defects and role of Tbx1 in mice.

Gioia Mastromoro, Giulio Calcagni, Paolo Versacci, Carolina Putotto, Marcello Chinali, Caterina Lambiase, Marta Unolt, Elena Pelliccione, Silvia Anaclerio, Cinzia Caprio, Sara Cioffi, Marchesa Bilio, Anwar Baban, Fabrizio Drago, Maria Cristina Digilio, Bruno Marino, Antonio Baldini,

Introduction and Hypothesis: Patients with 22q11 deletion syndrome (22q11.2DS) present, in about 75% of cases, typical patterns of cardiac defects, with a particular involvement on the ventricular outflow tract and great arteries. However, in this genetic condition the dimensions of the pulmonary arteries (PAs) never were specifically evaluated. We measured ... Read more >>

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LTBP2-related "Marfan-like" phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant.

Silvia Morlino, Viola Alesi, Federica Calì, Francesca Romana Lepri, Aurelio Secinaro, Paola Grammatico, Antonio Novelli, Fabrizio Drago, Marco Castori, Anwar Baban,

Recessive variants in LTBP2 are associated with eye-restricted phenotypes including (a) primary congenital glaucoma and (b) microspherophakia/megalocornea and ectopia lentis with/without secondary glaucoma. Nosology of LTBP2 pathology in humans is apparently in contrast with the consolidated evidence of a wide expression of this gene in the developing embryo. Accordingly, in ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2019, 179(1):104-112]

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Subcutaneous implantable cardioverter-defibrillator: is it ready for use in children and young adults? A single-centre study.

Massimo Stefano Silvetti, Vincenzo Pazzano, Letizia Verticelli, Irma Battipaglia, Fabio Anselmo Saputo, Sonia Albanese, Mariolina Lovecchio, Sergio Valsecchi, Fabrizio Drago,

Aims:Use of the subcutaneous implantable cardioverter-defibrillator (S-ICD) to prevent sudden cardiac death is increasing. Few data exist on S-ICD in young patients. We reviewed our single-centre experience in order to assess the effectiveness and safety of S-ICD implantation, and to identify potential factors associated with complications. Methods and results:Observational, non-randomized, ... Read more >>

Europace (Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology)
[2018, 20(12):1966-1973]

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Arrhythmias in congenital heart disease: a position paper of the European Heart Rhythm Association (EHRA), Association for European Paediatric and Congenital Cardiology (AEPC), and the European Society of Cardiology (ESC) Working Group on Grown-up Congenital heart disease, endorsed by HRS, PACES, APHRS, and SOLAECE.

Antonio Hernández-Madrid, Thomas Paul, Dominic Abrams, Peter F Aziz, Nico A Blom, Jian Chen, Massimo Chessa, Nicolas Combes, Nikolaos Dagres, Gerhard Diller, Sabine Ernst, Alessandro Giamberti, Joachim Hebe, Jan Janousek, Thomas Kriebel, Jose Moltedo, Javier Moreno, Rafael Peinado, Laurent Pison, Eric Rosenthal, Jonathan R Skinner, Katja Zeppenfeld, ,

The population of patients with congenital heart disease (CHD) is continuously increasing with more and more patients reaching adulthood. A significant portion of these young adults will suffer from arrhythmias due to the underlying congenital heart defect itself or as a sequela of interventional or surgical treatment. The medical community ... Read more >>

Europace (Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology)
[2018, 20(11):1719-1753]

Cited: 8 times

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First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report.

Anwar Baban, Monia Magliozzi, Bart Loeys, Rachele Adorisio, Viola Alesi, Aurelio Secinaro, Bernadette Corica, Luca Vricella, Harry C Dietz, Fabrizio Drago, Antonio Novelli, Antonio Amodeo,

BACKGROUND:Loeys-Dietz syndrome (LDS) is a rare multisystemic disorder characterized by vascular and skeletal abnormalities, with considerable intra- and interfamilial variability. CASE PRESENTATION:We report the case of an 8-year-old male with clinical features of two distinct genetic disorders, namely LDS, manifesting in the first months by progressive aortic root dilatation, arterial ... Read more >>

BMC Med. Genet. (BMC medical genetics)
[2018, 19(1):170]

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Long-term survival and phenotypic spectrum in heterotaxy syndrome: A 25-year follow-up experience.

Anwar Baban, Nicoletta Cantarutti, Rachele Adorisio, Roberta Lombardi, Giulio Calcagni, Eva Piano Mortari, Bruno Dallapiccola, Bruno Marino, Fiore Salvatore Iorio, Rita Carsetti, Maria Cristina Digilio, Salvatore Giannico, Fabrizio Drago, Adriano Carotti,

BACKGROUND:Heterotaxy syndrome (HS) is a group of congenital disorders characterized by abnormal arrangement of thoraco-abdominal organs across the left-right axis of the body, classified as right (RAI) and left atrial isomerism (LAI)·We investigated the long-term survival and phenotypic spectrum in our HS cohort. Results are compared to literature data. METHODS:This ... Read more >>

Int. J. Cardiol. (International journal of cardiology)
[2018, 268:100-105]

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Electroanatomic mapping-guided localization of alternative right ventricular septal pacing sites in children.

Massimo Stefano Silvetti, Irma Battipaglia, Vincenzo Pazzano, Fabio Anselmo Saputo, Lucilla Ravà, Antonio Ammirati, Camilla Calvieri, Michele Ciani, Fabrizio Drago,

BACKGROUND:Alternative right ventricular (RV) sites (RVAPS) have been proposed to prevent or reduce RV pacing-induced left-ventricular (LV) dysfunction. Nonfluoroscopic 3D electroanatomic mapping systems (EAM) have been developed to guide cardiac catheter navigation and reduce fluoroscopy during electrophysiological procedures or pacemaker implantations. AIM:The aim of the study was to compare the ... Read more >>

Pacing Clin Electrophysiol (Pacing and clinical electrophysiology : PACE)
[2018, 41(9):1204-1211]

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Pediatric extracorporeal cardiopulmonary resuscitation settled in an emergency department for a propafenone intentional intoxication.

Marco Marano, Bianca M Goffredo, Mara Pisani, Sergio Filippelli, Corrado Cecchetti, Fabrizio Drago, Maria A Barbieri, Joseph Nunziata, Leonardo Genuini, Matteo Di Nardo,

The use of drugs in suicide attempts is becoming more and more frequent among adolescents. Intentional intoxication with propafenone is very rare and mainly reported in adults associated with other drugs. The therapeutic approach is symptomatic, since there is no specific antidote for propafenone. We present a pediatric case of ... Read more >>

Am J Emerg Med (The American journal of emergency medicine)
[2018, 36(11):2132.e1-2132.e3]

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