Risk Stratification in Hypertrophic Cardiomyopathy. Insights from Genetic Analysis and Cardiopulmonary Exercise Testing.

cardiopulmonary exercise test genetic testing hypertrophic cardiomyopathy

Journal

Journal of clinical medicine
ISSN: 2077-0383
Titre abrégé: J Clin Med
Pays: Switzerland
ID NLM: 101606588

Informations de publication

Date de publication:
28 May 2020
Historique:
received: 04 05 2020
revised: 22 05 2020
accepted: 26 05 2020
entrez: 3 6 2020
pubmed: 3 6 2020
medline: 3 6 2020
Statut: epublish

Résumé

The role of genetic testing over the clinical and functional variables, including data from the cardiopulmonary exercise test (CPET), in the hypertrophic cardiomyopathy (HCM) risk stratification remains unclear. A retrospective genotype-phenotype correlation was performed to analyze possible differences between patients with and without likely pathogenic/pathogenic (LP/P) variants. A total of 371 HCM patients were screened at least for the main sarcomeric genes

Identifiants

pubmed: 32481709
pii: jcm9061636
doi: 10.3390/jcm9061636
pmc: PMC7356142
pii:
doi:

Types de publication

Journal Article

Langues

eng

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Auteurs

Damiano Magrì (D)

Department of Clinical and Molecular Medicine, Sapienza University, 00100 Rome, Italy.

Vittoria Mastromarino (V)

Department of Clinical and Molecular Medicine, Sapienza University, 00100 Rome, Italy.
Unit of Pediatric Cardiology and Cardiac Surgery, Sant'Orsola Hospital, 40100 Bologna, Italy.

Giovanna Gallo (G)

Department of Clinical and Molecular Medicine, Sapienza University, 00100 Rome, Italy.

Elisabetta Zachara (E)

Cardiac Arrhythmia Center and Cardiomyopathies Unit, San Camillo - Forlanini Hospital, 00100 Rome, Italy.

Federica Re (F)

Cardiac Arrhythmia Center and Cardiomyopathies Unit, San Camillo - Forlanini Hospital, 00100 Rome, Italy.

Piergiuseppe Agostoni (P)

Centro Cardiologico Monzino, IRCCS, 20100 Milan, Italy.
Department of Clinical Sciences and Community Health, University of Milan, 20100 Milan, Italy.

Dario Giordano (D)

Department of Clinical and Molecular Medicine, Sapienza University, 00100 Rome, Italy.

Speranza Rubattu (S)

Department of Clinical and Molecular Medicine, Sapienza University, 00100 Rome, Italy.
IRCCS Neuromed, 86077 Pozzilli (IS), Italy.

Maurizio Forte (M)

IRCCS Neuromed, 86077 Pozzilli (IS), Italy.

Maria Cotugno (M)

IRCCS Neuromed, 86077 Pozzilli (IS), Italy.

Maria Rosaria Torrisi (MR)

Department of Clinical and Molecular Medicine, Sapienza University, 00100 Rome, Italy.
UOC Medical Genetics and Advanced Cell Diagnostics, S. Andrea University Hospital, 00100 Rome, Italy.

Simona Petrucci (S)

Department of Clinical and Molecular Medicine, Sapienza University, 00100 Rome, Italy.
UOC Medical Genetics and Advanced Cell Diagnostics, S. Andrea University Hospital, 00100 Rome, Italy.

Aldo Germani (A)

Department of Clinical and Molecular Medicine, Sapienza University, 00100 Rome, Italy.
UOC Medical Genetics and Advanced Cell Diagnostics, S. Andrea University Hospital, 00100 Rome, Italy.

Camilla Savio (C)

UOC Medical Genetics and Advanced Cell Diagnostics, S. Andrea University Hospital, 00100 Rome, Italy.

Antonello Maruotti (A)

Department of Scienze Economiche, Politiche e Delle Lingue Moderne - Libera Università SS Maria Assunta, 00100 Rome, Italy.
Department of Mathematics, University of Bergen, 5052 Bergen, Norway.
School of Computing, University of Portsmouth, Portsmouth PO1, UK.

Massimo Volpe (M)

Department of Clinical and Molecular Medicine, Sapienza University, 00100 Rome, Italy.
IRCCS Neuromed, 86077 Pozzilli (IS), Italy.

Camillo Autore (C)

Department of Clinical and Molecular Medicine, Sapienza University, 00100 Rome, Italy.

Maria Piane (M)

Department of Clinical and Molecular Medicine, Sapienza University, 00100 Rome, Italy.
UOC Medical Genetics and Advanced Cell Diagnostics, S. Andrea University Hospital, 00100 Rome, Italy.

Beatrice Musumeci (B)

Department of Clinical and Molecular Medicine, Sapienza University, 00100 Rome, Italy.

Classifications MeSH