» Articles » PMID: 35179231

Cardiac and Pulmonary Findings in Dysferlinopathy: A 3-year, Longitudinal Study

Abstract

Introduction/aims: There is debate about whether and to what extent either respiratory or cardiac dysfunction occurs in patients with dysferlinopathy. This study aimed to establish definitively whether dysfunction in either system is part of the dysferlinopathy phenotype.

Methods: As part of the Jain Foundation's International Clinical Outcome Study (COS) for dysferlinopathy, objective measures of respiratory and cardiac function were collected twice, with a 3-y interval between tests, in 188 genetically confirmed patients aged 11-86 y (53% female). Measures included forced vital capacity (FVC), electrocardiogram (ECG), and echocardiogram (echo).

Results: Mean FVC was 90% predicted at baseline, decreasing to 88% at year 3. FVC was less than 80% predicted in 44 patients (24%) at baseline and 48 patients (30%) by year 3, including ambulant participants. ECGs showed P-wave abnormalities indicative of delayed trans-atrial conduction in 58% of patients at baseline, representing a risk for developing atrial flutter or fibrillation. The prevalence of impaired left ventricular function or hypertrophy was comparable to that in the general population.

Discussion: These results demonstrate clinically significant respiratory impairment and abnormal atrial conduction in some patients with dysferlinopathy. Therefore, we recommend that annual or biannual follow-up should include FVC measurement, enquiry about arrhythmia symptoms and peripheral pulse palpation to assess cardiac rhythm. However, periodic specialist cardiac review is probably not warranted unless prompted by symptoms or abnormal pulse findings.

Citing Articles

Gene-editing in patient and humanized-mice primary muscle stem cells rescues dysferlin expression in dysferlin-deficient muscular dystrophy.

Escobar H, Di Francescantonio S, Smirnova J, Graf R, Muthel S, Marg A Nat Commun. 2025; 16(1):120.

PMID: 39747848 PMC: 11695731. DOI: 10.1038/s41467-024-55086-0.


The Dysferlinopathies Conundrum: Clinical Spectra, Disease Mechanism and Genetic Approaches for Treatments.

Anwar S, Yokota T Biomolecules. 2024; 14(3).

PMID: 38540676 PMC: 10968265. DOI: 10.3390/biom14030256.


Pharmacotherapeutic Approaches to Treatment of Muscular Dystrophies.

Rawls A, Diviak B, Smith C, Severson G, Acosta S, Wilson-Rawls J Biomolecules. 2023; 13(10).

PMID: 37892218 PMC: 10605463. DOI: 10.3390/biom13101536.


Portrait of Dysferlinopathy: Diagnosis and Development of Therapy.

Bouchard C, Tremblay J J Clin Med. 2023; 12(18).

PMID: 37762951 PMC: 10531777. DOI: 10.3390/jcm12186011.


Longitudinal Analysis of Respiratory Function of Different Types of Limb Girdle Muscular Dystrophies Reveals Independent Trajectories.

Muni-Lofra R, Juanola-Mayos E, Schiava M, Moat D, Elseed M, Michel-Sodhi J Neurol Genet. 2023; 9(4):e200084.

PMID: 37440793 PMC: 10335843. DOI: 10.1212/NXG.0000000000200084.


References
1.
Kou S, Caballero L, Dulgheru R, Voilliot D, De Sousa C, Kacharava G . Echocardiographic reference ranges for normal cardiac chamber size: results from the NORRE study. Eur Heart J Cardiovasc Imaging. 2014; 15(6):680-90. PMC: 4402333. DOI: 10.1093/ehjci/jet284. View

2.
Ihlebaek C, Eriksen H, Ursin H . Prevalence of subjective health complaints (SHC) in Norway. Scand J Public Health. 2002; 30(1):20-9. View

3.
Krachman S, Criner G . Hypoventilation syndromes. Clin Chest Med. 1998; 19(1):139-55. DOI: 10.1016/s0272-5231(05)70438-x. View

4.
Choi E, Park S, Choe Y, Ryu D, Chang S, Choi J . Early detection of cardiac involvement in Miyoshi myopathy: 2D strain echocardiography and late gadolinium enhancement cardiovascular magnetic resonance. J Cardiovasc Magn Reson. 2010; 12:31. PMC: 2887439. DOI: 10.1186/1532-429X-12-31. View

5.
Ismail H, Raynor E, Zimetbaum P . Neuromuscular Disorders and the Role of the Clinical Electrophysiologist. JACC Clin Electrophysiol. 2018; 3(10):1069-1079. DOI: 10.1016/j.jacep.2017.04.023. View