Cardiac Phenotypes in Hereditary Muscle Disorders: JACC State-of-the-Art Review

E Arbustini, A Di Toro, L Giuliani, V Favalli… - Journal of the American …, 2018 - jacc.org
Hereditary muscular diseases commonly involve the heart. Cardiac manifestations
encompass a spectrum of phenotypes, including both cardiomyopathies and rhythm …

French National Protocol for diagnosis and care of facioscapulohumeral muscular dystrophy (FSHD)

S Attarian, S Beloribi-Djefaflia, R Bernard, K Nguyen… - Journal of …, 2024 - Springer
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common genetically
inherited myopathies in adults. It is characterized by incomplete penetrance and variable …

2022 HRS expert consensus statement on evaluation and management of arrhythmic risk in neuromuscular disorders

WJ Groh, D Bhakta, GF Tomaselli, RG Aleong… - Heart Rhythm, 2022 - Elsevier
This international multidisciplinary document is intended to guide electrophysiologists,
cardiologists, other clinicians, and health care professionals in caring for patients with …

ANT1 overexpression models: Some similarities with facioscapulohumeral muscular dystrophy

S Arbogast, H Kotzur, C Frank, N Compagnone, T Sutra… - Redox Biology, 2022 - Elsevier
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disorder
characterized by progressive muscle weakness. Adenine nucleotide translocator 1 (ANT1) …

Systemic manifestations and symptom burden of facioscapulohumeral muscular dystrophy in a referral cohort

CR Kelly, JL Saw, P Thapa, J Mandrekar… - Muscle & …, 2022 - Wiley Online Library
Abstract Introduction/Aims The full spectrum of the clinical phenotype of
facioscapulohumeral muscular dystrophy (FSHD), beyond skeletal muscle weakness …

Cardiac involvement in facioscapulohumeral muscular dystrophy (FSHD)

A Ducharme-Smith, S Nicolau, CAA Chahal… - Frontiers in …, 2021 - frontiersin.org
Background: Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common
muscular dystrophies and predominantly affects facial and shoulder girdle muscles …

Role of CMR imaging in diagnostics and evaluation of cardiac involvement in muscle dystrophies

E Blaszczyk, J Gröschel, J Schulz-Menger - Current Heart Failure Reports, 2021 - Springer
Abstract Purpose of Review This review aims to outline the utility of cardiac magnetic
resonance (CMR) in patients with different types of muscular dystrophies for the assessment …

Diagnosis of cardiac abnormalities in muscular dystrophies

E Bădilă, II Lungu, AM Grumezescu, A Scafa Udriște - Medicina, 2021 - mdpi.com
Muscular disorders are mainly characterized by progressive skeletal muscle weakness.
There are several aspects that can be monitored, which are used to differentiate between …

Cardiac involvement in a cross‐sectional cohort of myotonic dystrophies and other skeletal myopathies

J Schmid, M Beer, A Berghold, T Stojakovic… - ESC Heart …, 2020 - Wiley Online Library
Aims Cardiac involvement in myopathies that primarily affect the skeletal muscle is variable
and may be subtle, necessitating sensitive diagnostic approaches. Here, we describe the …

Facioscapulohumeral Muscular Dystrophy

J Hamel, R Tawil - Principles and Practice of the Muscular Dystrophies, 2024 - Springer
Facioscapulohumeral muscular dystrophy is the most prevalent dominantly-inherited
muscular dystrophy after myotonic dystrophy. The most distinctive clinical features are the …