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

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