Literature DB >> 34783874

Cardiac Amyloidosis in a Child Presenting with Syncope: The First Reported Case and a Diagnostic Dilemma.

Diana Milagros Torpoco Rivera1,2, Celeste T Williams3, Peter P Karpawich4,5.   

Abstract

Cardiac amyloidosis is a rare cause of cardiomyopathy, reported exclusively in adults. We report the first known case presenting in childhood. A 12-year-old boy presented with syncope and diagnosed with ventricular non-compaction by echocardiography. Eventual genetic testing confirmed a TTR gene mutation associated with hereditary transthyretin amyloidosis.
© 2021. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.

Entities:  

Keywords:  Arrhythmia; Cardiac amyloidosis; Cardiomyopathy; Transthyretin amyloidosis

Mesh：

Substances：

Year:  2021        PMID： 34783874     DOI： 10.1007/s00246-021-02778-9

Source DB:  PubMed          Journal:  Pediatr Cardiol        ISSN： 0172-0643            Impact factor:   1.655


  8 in total

Review 1.  Transthyretin Amyloid Cardiomyopathy: JACC State-of-the-Art Review.

Authors:  Frederick L Ruberg; Martha Grogan; Mazen Hanna; Jeffery W Kelly; Mathew S Maurer
Journal:  J Am Coll Cardiol       Date:  2019-06-11       Impact factor: 24.094

Review 2.  Treatment of cardiac transthyretin amyloidosis: an update.

Authors:  Michele Emdin; Alberto Aimo; Claudio Rapezzi; Marianna Fontana; Federico Perfetto; Petar M Seferović; Andrea Barison; Vincenzo Castiglione; Giuseppe Vergaro; Alberto Giannoni; Claudio Passino; Giampaolo Merlini
Journal:  Eur Heart J       Date:  2019-12-01       Impact factor: 29.983

Review 3.  Expert Consensus Recommendations for the Suspicion and Diagnosis of Transthyretin Cardiac Amyloidosis.

Authors:  Mathew S Maurer; Sabahat Bokhari; Thibaud Damy; Sharmila Dorbala; Brian M Drachman; Marianna Fontana; Martha Grogan; Arnt V Kristen; Isabelle Lousada; Jose Nativi-Nicolau; Candida Cristina Quarta; Claudio Rapezzi; Frederick L Ruberg; Ronald Witteles; Giampaolo Merlini
Journal:  Circ Heart Fail       Date:  2019-09-04       Impact factor: 8.790

4.  A new staging system for cardiac transthyretin amyloidosis.

Authors:  Julian D Gillmore; Thibaud Damy; Marianna Fontana; Matthew Hutchinson; Helen J Lachmann; Ana Martinez-Naharro; Candida C Quarta; Tamer Rezk; Carol J Whelan; Esther Gonzalez-Lopez; Thirusha Lane; Janet A Gilbertson; Dorota Rowczenio; Aviva Petrie; Philip N Hawkins
Journal:  Eur Heart J       Date:  2018-08-07       Impact factor: 29.983

5.  Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective.

Authors:  Claudio Rapezzi; Candida Cristina Quarta; Laura Obici; Federico Perfetto; Simone Longhi; Fabrizio Salvi; Elena Biagini; Massimiliano Lorenzini; Francesco Grigioni; Ornella Leone; Francesco Cappelli; Giovanni Palladini; Paola Rimessi; Alessandra Ferlini; Giorgio Arpesella; Antonio Daniele Pinna; Giampaolo Merlini; Stefano Perlini
Journal:  Eur Heart J       Date:  2012-06-28       Impact factor: 29.983

6.  Systemic cardiac amyloidoses: disease profiles and clinical courses of the 3 main types.

Authors:  Claudio Rapezzi; Giampaolo Merlini; Candida C Quarta; Letizia Riva; Simone Longhi; Ornella Leone; Fabrizio Salvi; Paolo Ciliberti; Francesca Pastorelli; Elena Biagini; Fabio Coccolo; Robin M T Cooke; Letizia Bacchi-Reggiani; Diego Sangiorgi; Alessandra Ferlini; Michele Cavo; Elena Zamagni; Maria Luisa Fonte; Giovanni Palladini; Francesco Salinaro; Francesco Musca; Laura Obici; Angelo Branzi; Stefano Perlini
Journal:  Circulation       Date:  2009-09-14       Impact factor: 29.690

7.  Prevalence and clinical phenotype of hereditary transthyretin amyloid cardiomyopathy in patients with increased left ventricular wall thickness.

Authors:  Thibaud Damy; Bruno Costes; Albert A Hagège; Erwan Donal; Jean-Christophe Eicher; Michel Slama; Aziz Guellich; Stéphane Rappeneau; Jean-Pierre Gueffet; Damien Logeart; Violaine Planté-Bordeneuve; Hélène Bouvaist; Olivier Huttin; Geneviève Mulak; Jean-Luc Dubois-Randé; Michel Goossens; Florence Canoui-Poitrine; Joel N Buxbaum
Journal:  Eur Heart J       Date:  2015-11-03       Impact factor: 29.983

8.  Left ventricular noncompaction associated with hypertrophic cardiomyopathy: echocardiographic diagnosis and genetic analysis of a new pedigree in China.

Authors:  Li Yuan; Mingxing Xie; Tsung O Cheng; Xinfang Wang; Feng Zhu; Xiangquan Kong; Devina Ghoorah
Journal:  Int J Cardiol       Date:  2014-03-15       Impact factor: 4.164
  8 in total

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