scholarly journals Cardiac Involvement in Facioscapulohumeral Muscular Dystrophy (FSHD)

2021 ◽  
Vol 12 ◽  
Author(s):  
Allison Ducharme-Smith ◽  
Stefan Nicolau ◽  
C. Anwar A. Chahal ◽  
Kirstie Ducharme-Smith ◽  
Shujah Rehman ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Atrioventricular Block ◽  
Cardiac Involvement ◽  
Case Reports ◽  
Shoulder Girdle ◽  
Facioscapulohumeral Muscular Dystrophy ◽  
Reduced Ejection Fraction ◽  
Cardiac Abnormalities ◽  
Conduction Abnormality ◽  
Conduction Abnormalities

Background: Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common muscular dystrophies and predominantly affects facial and shoulder girdle muscles. Previous case reports and cohort studies identified minor cardiac abnormalities in FSHD patients, but their nature and frequency remain incompletely characterized.Methods: We reviewed cardiac, neurological and genetic findings of 104 patients with genetically confirmed FSHD.Results: The most common conduction abnormality was complete (7%) or incomplete (5%) right bundle branch block (RBBB). Bifascicular block, left anterior fascicular block, complete atrioventricular block, and 2:1 atrioventricular block each occurred in 1% of patients. Atrial fibrillation or flutter were seen in 5% of patients. Eight percent of patients had heart failure with reduced ejection fraction and 25% had valvular disease. The latter included aortic stenosis in 6% (severe in 4% and moderate in 2%) and moderate aortic regurgitation in 8%. Mitral valve prolapse (MVP) was present in 9% of patients without significant mitral regurgitation. There were no significant associations between structural or conduction abnormalities and age, degree of muscle weakness, or size of the 4q deletion.Conclusions: Both structural and conduction abnormalities can occur in FSHD. The most common abnormalities are benign (RBBB and MVP), but more significant cardiac involvement was also observed. The presence of cardiac abnormalities cannot be predicted from the severity of the neurological phenotype, nor from the genotype.

Subclinical cardiac involvement in patients with facioscapulohumeral muscular dystrophy

2005 ◽  
Vol 15 (6) ◽  
pp. 403-408 ◽  
Author(s):  
Fabio Galetta ◽  
Ferdinando Franzoni ◽  
Roberto Sposito ◽  
Yvonne Plantinga ◽  
Francesca Romana Femia ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Cardiac Involvement ◽  
Facioscapulohumeral Muscular Dystrophy

scholarly journals Early-Onset Infantile Facioscapulohumeral Muscular Dystrophy: A Timely Review

2020 ◽  
Vol 21 (20) ◽  
pp. 7783
Author(s):  
Tai-Heng Chen ◽  
Yan-Zhang Wu ◽  
Yung-Hao Tseng
Keyword(s):  
Muscular Dystrophy ◽  
Early Onset ◽  
Case Reports ◽  
Facioscapulohumeral Muscular Dystrophy ◽  
Clinical Severity ◽  
Genetic Diagnostics ◽  
Rapid Decline ◽  
Novel Treatments ◽  
D4z4 Repeat ◽  
History Of

Facioscapulohumeral muscular dystrophy (FSHD)—the worldwide third most common inherited muscular dystrophy caused by the heterozygous contraction of a 3.3 kb tandem repeat (D4Z4) on a chromosome with a 4q35 haplotype—is a progressive genetic myopathy with variable onset of symptoms, distribution of muscle weakness, and clinical severity. While much is known about the clinical course of adult FSHD, data on the early-onset infantile phenotype, especially on the progression of the disease, are relatively scarce. Contrary to the classical form, patients with infantile FSHD more often have a rapid decline in muscle wasting and systemic features with multiple extramuscular involvements. A rough correlation between the phenotypic severity of FSHD and the D4Z4 repeat size has been reported, and the majority of patients with infantile FSHD obtain a very short D4Z4 repeat length (one to three copies, EcoRI size 10–14 kb), in contrast to the classical, slowly progressive, form of FSHD (15–38 kb). With the increasing identifications of case reports and the advance in genetic diagnostics, recent studies have suggested that the infantile variant of FSHD is not a genetically separate entity but a part of the FSHD spectrum. Nevertheless, many questions about the clinical phenotype and natural history of infantile FSHD remain unanswered, limiting evidence-based clinical management. In this review, we summarize the updated research to gain insight into the clinical spectrum of infantile FSHD and raise views to improve recognition and understanding of its underlying pathomechanism, and further, to advance novel treatments and standard care methods.

Cardiac Abnormalities in Type 1 Facioscapulohumeral Muscular Dystrophy

2017 ◽  
Vol 18 (4) ◽  
pp. 199-206 ◽  
Author(s):  
Fabien Labombarda ◽  
Maxime Maurice ◽  
Jean-Philippe Simon ◽  
Damien Legallois ◽  
Lucie Guyant-Maréchal ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Facioscapulohumeral Muscular Dystrophy ◽  
Cardiac Abnormalities

Early-onset facioscapulohumeral muscular dystrophy: two case reports

1997 ◽  
Vol 19 (8) ◽  
pp. 563-567 ◽  
Author(s):  
Akiko Okinaga ◽  
Taro Matsuoka ◽  
Jiro Umeda ◽  
Itaru Yanagihara ◽  
Koji Inui ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Early Onset ◽  
Case Reports ◽  
Facioscapulohumeral Muscular Dystrophy

scholarly journals Case Reports: Emery-Dreifuss Muscular Dystrophy Presenting as a Heart Rhythm Disorders in Children

2021 ◽  
Vol 8 ◽  
Author(s):  
Tatiana Kovalchuk ◽  
Elena Yakovleva ◽  
Svetlana Fetisova ◽  
Tatiana Vershinina ◽  
Viktoriya Lebedeva ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Muscular Dystrophy ◽  
Case Reports ◽  
Sinus Node ◽  
Heart Rhythm ◽  
Cardiac Abnormalities ◽  
Progressive Muscle Weakness ◽  
Cardiac Phenotype ◽  
Cardiac Symptoms ◽  
Heart Rhythm Disorders

Emery-Dreifuss muscular dystrophy (EDMD) is inherited muscle dystrophy often accompanied by cardiac abnormalities in the form of supraventricular arrhythmias, conduction defects and sinus node dysfunction. Cardiac phenotype typically arises years after skeletal muscle presentation, though, could be severe and life-threatening. The defined clinical manifestation with joint contractures, progressive muscle weakness and atrophy, as well as cardiac symptoms are observed by the third decade of life. Still, clinical course and sequence of muscle and cardiac signs may be variable and depends on the genotype. Cardiac abnormalities in patients with EDMD in pediatric age are not commonly seen. Here we describe five patients with different forms of EDMD (X-linked and autosomal-dominant) caused by the mutations in EMD and LMNA genes, presented with early onset of cardiac abnormalities and no prominent skeletal muscle phenotype. The predominant forms of cardiac pathology were atrial arrhythmias and conduction disturbances that progress over time. The presented cases discussed in the light of therapeutic strategy, including radiofrequency ablation and antiarrhythmic devices implantation, and the importance of thorough neurological and genetic screening in pediatric patients presenting with complex heart rhythm disorders.

Cardiac Involvement in Facioscapulohumeral Muscular Dystrophy

Cardiology ◽  
2005 ◽  
Vol 103 (2) ◽  
pp. 81-83 ◽  
Author(s):  
Josef Finsterer ◽  
Claudia Stöllberger ◽  
Gerhard Meng
Keyword(s):  
Muscular Dystrophy ◽  
Cardiac Involvement ◽  
Facioscapulohumeral Muscular Dystrophy

scholarly journals Outcomes of scapulothoracic fusion in facioscapulohumeral muscular dystrophy: A systematic review

2019 ◽  
Vol 12 (2) ◽  
pp. 75-90
Author(s):  
Dorsa Kord ◽  
Eva Liu ◽  
Nolan S Horner ◽  
George S Athwal ◽  
Moin Khan ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Pulmonary Function ◽  
Rare Condition ◽  
Shoulder Girdle ◽  
Facioscapulohumeral Muscular Dystrophy ◽  
Heterogeneous Data ◽  
Significant Loss ◽  
Daily Activities ◽  
Hardware Failure ◽  
Non Union

Background Facioscapulohumeral muscular dystrophy (FSHD) is a rare condition associated with selective weakness of the muscles of the upper arm, face, and shoulder girdle, negatively affecting daily activities. Scapulothoracic arthrodesis may restore shoulder function and improve quality of life. The purpose of this review is to evaluate the outcomes and complications of scapulothoracic arthrodesis in FSHD patients. Methods Medline, Pubmed, and Embase were systematically searched. Studies were included if they described scapulothoracic arthrodesis in FSHD with follow-up, and outcomes were adequately reported. Thirteen eligible articles reported the outcomes of 199 arthrodesis in 130 patients. Results The mean gain of shoulder forward elevation and abduction were 45° (p < 0.05) and 40° (p < 0.05), respectively. There was an overall cosmetic satisfaction and improved performance of daily activities. There is limited and heterogeneous data on changes in pulmonary function, but such changes are clinically insignificant. The rate of complications was 41% of which 10% were serious, requiring an intervention or re-admission. The most common complications were hardware failure (8%), non-union (6%), and pneumothorax (5%). Discussion Scapulothoracic arthrodesis improved cosmesis, performance of daily activities and shoulder motion with no clinically significant loss of pulmonary function. The complication rate is high, and some are potentially serious.

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