Combined Clinical, Molecular, and Muscle Biopsy Approach to Unveil Prevalence and Clinical Features of Rare Neuromuscular and Mitochondrial Diseases in Patients With Cardiomyopathies

被引：1

作者：

Lioncino, Michele ^{[2
]}

Monda, Emanuele ^{[2
,7
,8
]}

Caiazza, Martina ^{[2
]}

Simonelli, Vincenzo ^{[3
]}

Nesti, Claudia ^{[9
]}

Mauriello, Alfredo ^{[2
]}

Budillon, Alberta ^{[10
,11
]}

Di Santo, Alessandro ^{[5
]}

Bruno, Giorgia ^{[12
]}

Varone, Antonio ^{[12
]}

Nigro, Vincenzo ^{[13
,14
]}

Santorelli, Filippo Maria ^{[9
]}

Pacileo, Giuseppe ^{[4
]}

Russo, Maria Giovanna ^{[6
]}

Frisso, Giulia ^{[15
]}

Sampaolo, Simone ^{[10
,11
]}

Limongelli, Giuseppe ^{[1
,2
,5
,7
,8
]}

机构：

[1] Univ Campania Luigi Vanvitelli, AO Colli Monaldi Hosp ERN Guard Heart Member, Dept Translat Med Sci, Inherited & Rare Cardiovasc Dis, I-80131 Naples, Italy

[2] Univ Campania Luigi Vanvitelli, Dept Translat Med Sci, Inherited & Rare Cardiovasc Dis Unit, Naples, Italy

[3] Monaldi Hosp, Neurol Unit, Naples, Italy

[4] Monaldi Hosp, Dept Cardiiol, Heart Failure Unit, Naples, Italy

[5] Serena Onlus, NeuroMuscular Omnictr NEMO, Milan, Italy

[6] Univ Campania Luigi Vanvitelli, Monaldi Hosp, Paediat Cardiol Unit, AORN Colli, Naples, Italy

[7] UCL, Inst Cardiovasc Sci, London, England

[8] St Bartholomews Hosp, London, England

[9] IRCCS Stella Maris Fdn, Mol Med, Pisa, Italy

[10] Univ Campania Luigi Vanvitelli, Ctr Rare Dis, Div Neurol 2, Dept Adv Med & Surg Sci, Naples, Italy

[11] Univ Campania Luigi Vanvitelli, Interuniv Ctr Res Neurosci, Naples, Italy

[12] Santobono Pausilipon Childrens Hosp, Dept Neurosci, Pediat Neurol Unit, Naples, Italy

[13] Univ Campania Luigi Vanvitelli, Dept Precis Med, Naples, Italy

[14] Telethon Inst Genet & Med, Pozzuoli, Italy

[15] Univ Naples Federico II, Dept Mol Med & Med Biotechnol, Naples, Italy

来源：

CIRCULATION-GENOMIC AND PRECISION MEDICINE | 2023年 / 16卷 / 04期

关键词：

biopsy; cardiomyopathies; cardiovascular diseases; mitochondrial diseases; morbidity; MANAGEMENT;

D O I：

10.1161/CIRCGEN.123.004122

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Among patients with (NMDs), major cause of morbidity and mortality. Although cardiomyopathies (CMPs) represent a neuromuscular disorders there is large consensus on the adoption of a multidisciplinary approach in patients with CMPs, there is limited evidence on the role of a combined evaluation, based on the muscle biopsy and genetic testing, in patients with suspicion of NMDs.1,2 In our study, we aimed to evaluate the prevalence of rare NMDs and the usefulness of genetic testing and muscle biopsy, in addition to a comprehensive cardiological and neuromuscular evaluation, to identify CMP patients with neuromuscular or mitochondrial etiology in a consecutive cohort of patients referred to a tertiary CMP clinic. © 2019 Medical Journal of Babylon | Published by Wolters Kluwer - Medknow.

引用

页码：412 / 414

页数：3

共 4 条

[1] MELAS Clinical features, muscle biopsy and molecular genetics
Lorenzoni, Paulo Jose
Scola, Rosana H.
Kay, Claudia S. Kamoi
Arndt, Raquel C.
Freund, Aline A.
Bruck, Isac
Santos, Mara Lucia S. F.
Werneck, Lineu C.
ARQUIVOS DE NEURO-PSIQUIATRIA, 2009, 67 (3A) : 668 - 676
[2] Clinical, Genetic, and Histological Characterization of Patients with Rare Neuromuscular and Mitochondrial Diseases Presenting with Different Cardiomyopathy Phenotypes
Monda, Emanuele
Lioncino, Michele
Caiazza, Martina
Simonelli, Vincenzo
Nesti, Claudia
Rubino, Marta
Perna, Alessia
Mauriello, Alfredo
Budillon, Alberta
Pota, Vincenzo
Bruno, Giorgia
Varone, Antonio
Nigro, Vincenzo
Santorelli, Filippo Maria
Pacileo, Giuseppe
Russo, Maria Giovanna
Frisso, Giulia
Sampaolo, Simone
Limongelli, Giuseppe
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2023, 24 (10)
[3] Mitochondrial diseases in children:: neuroradiological and clinical features in 17 patients
Muñoz, A
Mateos, F
Simón, R
García-Silva, MT
Cabello, A
Arenas, J
NEURORADIOLOGY, 1999, 41 (12) : 920 - 928
[4] Impact of systemic immune-mediated diseases on clinical features and prognosis of patients with biopsy-proved myocarditis
Peretto, Giovanni
Sala, Simone
De Luca, Giacomo
Campochiaro, Corrado
Sartorelli, Silvia
Cappelletti, Alberto M.
Rizzo, Stefania
Palmisano, Anna
Esposito, Antonio
Margonato, Alberto
Tresoldi, Moreno
Thiene, Gaetano
Basso, Cristina
Dagna, Lorenzo
Della Bella, Paolo
INTERNATIONAL JOURNAL OF CARDIOLOGY, 2019, 280 : 110 - 116

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