Summary
Purpose
Marfan Syndrome (MFS) is a connective tissue disorder that affects skeletal, ocular,
pulmonary, cardiovascular, and central nervous systems. Symptoms may lead to diminished
quality of life (QoL) in individuals with MFS compared with healthy individuals. Currently,
there is little evidence regarding the impact of MFS on voicing and QoL. This study
examined perceptions of voicing difficulties and QoL among persons with MFS.
Method
A total of 356 participants with a self-reported diagnosis of MFS completed the Quality-of-Life
Index (QLI) and voice handicap index–10 (VHI-10) and provided medication regime.
Results
Some degree of voice handicap was reported by a majority of participants. Analyses
assessing correlations between responses to the VHI-10, QLI scores, and reported medications
were conducted. Specific medications and responses on the VHI-10 were significantly
associated with QLI scores. Multiple regression analyses revealed that a summed VHI-10
score was the strongest predictor of QLI satisfaction, QLI importance, and overall
QLI.
Conclusions
The findings of the current study suggest that individuals with MFS may experience
self-perceived phonatory dysfunction which impact QoL. Specific classes of drugs may
also be associated with reported voice handicap and QoL satisfaction in MFS. These
findings have implications for physicians and clinicians who work with individuals
with MFS.
Key Words
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REFERENCES
- Ehlers-Danlos syndromes and Marfan syndrome.Best Pract Res Clin Rheumatol. 2008; 22: 165-189https://doi.org/10.1016/j.berh.2007.12.005
- Eagle KA for the GenTAC Registry Consortium. Marfan syndrome and quality of life in the GenTAC registry.J Am Coll Cardiol. 2017; 69: 2821-2830https://doi.org/10.1016/j.jacc.2017.04.026
- The incidence and severity of physical pain symptoms in Marfan syndrome: a survey of 993 patients.Clin J Pain. 2015; 31: 1080-1086https://doi.org/10.1097/AJP.0000000000000202
- Fatigue, cognitive functioning and psychological distress in Marfan syndrome, a pilot study.Psychol Health Med. 2007; 12: 305-313https://doi.org/10.1080/13548500600580824
- The incidence of Marfan syndrome and cardiac anomalies in patients presenting with pectus deformities.J Pediatr Surg. 2019; 54: 1926-1928https://doi.org/10.1016/j.jpedsurg.2018.11.017
- Determinants of quality of life in Marfan syndrome.Psychosomatics. 2008; 49 (Available at:): 243-248
- Treatment of aortic disease in patients with Marfan syndrome.Circulation. 2005; 111: e150-e157https://doi.org/10.1161/01.CIR.0000155243.70456.F4
- Overview of Marfan syndrome: knowns and unknowns.J Controversies Biomed Res. 2015; 1: 51-66https://doi.org/10.15586/jcbmr.2015.10
- The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele.HumMol Genet. 2015; 24: 2764-2770https://doi.org/10.1093/hmg/ddv037
- The molecular genetics of Marfan syndrome.Int J Med Sci. 2021; 18: 2752-2766https://doi.org/10.7150/ijms.60685
- Prevalence, incidence, and age at diagnosis in Marfan syndrome.Orphanet J Rare Dis. 2015; 10: 1-10https://doi.org/10.1186/s13023-015-0369-8
- Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome.Ann Cardiothorac Surg. 2017; 6: 582-594https://doi.org/10.21037/acs.2017.11.03
- The correlation between spinal and chest wall deformities and pulmonary function in Marfan syndrome.J Child Orthop. 2020; 14: 343-348https://doi.org/10.1302/1863-2548.14.200076
- Bilateral extracranial internal carotid artery aneurysms in a patient with Marfan syndrome: case report and review of the literature.EJVES Short Rep. 2019; 45: 14-16https://doi.org/10.1016/j.ejvssr.2019.08.003
- Clinical practice guideline: hoarseness (dysphonia).Otolaryngol Head Neck Surg. 2009; 141: S1-S31https://doi.org/10.1016/j.otohns.2009.06.744
- Vascular causes of dysphonia: a case series with different etiologies.Rep Med Imaging. 2021; 14: 65-70https://doi.org/10.2147/RMI.S300112
- Clinical practice guideline: Hoarseness (dysphonia) (update).Otolaryngology-Head Neck Surg. 2018; : 1-42https://doi.org/10.1177/0194599817751030
- Recurrent laryngeal nerve paralysis associated with thoracic aortic aneurysm.Otolaryngol Head Neck Surg. 1990; 102: 140-144
- Ortner's syndrome: a case report and literature review.Radiologia Brasileira. 2015; 48: 260-262https://doi.org/10.1590/0100-3984.2013.1836
- Hirano's cover-body model and its unique laryngeal postures revisited.Laryngoscope. 2018; 128: 1412-1418https://doi.org/10.1002/lary.27000
- Clinical Voice Disorders.4th ed. Thieme Medical Publishers, Inc., New York, NY2009
- A review of respiratory manifestations and their management in Ehlers-Danlos syndromes and hypermobility spectrum disorders.Chronic Respir Dis. 2021; 18: 1-14https://doi.org/10.1177/14799731211025313
- I have had to stop singing because I can't take the pain’: experiences of voice, ability, and loss in singers with hypermobility spectrum disorders.J Voice. 2021; https://doi.org/10.1016/j.jvoice.2021.11.017
- Laryngeal involvement in connective tissue disorders. Is it important for patient management?.Indian J Otolaryngol Head Neck Surg. 2014; 66: S22-S29https://doi.org/10.1007/s12070-012-0491-z
- Collagen subtypes in human vocal folds.Ann Otol Rhinol Laryngol. 2006; 115: 469-476
- Personality traits and psychological factors in voice pathology: a foundation for future research.J Speech, Lang Hear Res. 2000; 43: 737-748
- Of Marfan's syndrome, mice, and medications – editorial.New Engl JMed. 2014; 371: 2127-2128https://doi.org/10.1056/NEJMe1412950
- Drug interactions with oral anticoagulants in German nursing home residents: comparison between vitamin K antagonists and non-vitamin K antagonist oral anticoagulants based on two nested case-control studies.Clin Res Cardiol. 2020; 109: 465-475https://doi.org/10.1007/s00392-019-01526-7
- Histamine-2 receptor expression in gastric mucosa before and after Helicobacter pylori cure.Aliment Pharmacol Ther. 2005; 21: 92-98
- The therapeutic potential of NO-NSAIDs.FundamClin Pharmacol. 2002; 17: 11-20
- Vitamin K antagonist anticoagulant usage is associated with increased incidence and progression of osteoarthritis.Ann Rheum Dis. 2021; 80: 598-604https://doi.org/10.1136/annrheumdis-2020-219483
- Osteoarthritis in cricoarytenoid joint.Osteoarthritis Cartilage. 1999; 7: 505-514
Nemr K, Di Carlos Silva A, Rodrigues DA, et al. Medications and adverse voice effects. J Voice. 2017;32:515.e29-515.e39. https://doi.org/10.1016/j.jvoice.2017.07.009.
- The voice and medications.(eds)in: Rubin JS Sataloff RT Korovin GS Diagnosis and Treatment of Voice Disorders. 4th ed. Plural Publishing, Inc., San Diego, CA2014: 617-629
- Analysis of the prevalence and onset of dysphonia and dysphagia symptoms in movement disorders at an academic medical center.J Clin Neurosci. 2019; 64: 111-115https://doi.org/10.1016/j.jocn.2019.03.043
- Development and validation of the voice handicap index-10.Laryngoscope. 2004; 114: 1549-1556
- Quality of life index: development and psychometric properties.Adv Nurs Sci. 1985; 8: 15-24
- Normative values for the Voice Handicap Index-10.J Voice. 2012; 26: 462-465https://doi.org/10.1016/j.jvoice.2011.04.006
- Prevalence and occupation of patients presenting with dysphonia in the United States.J Voice. 2017; 31: 594-600https://doi.org/10.1016/j.jvoice.2017.01.011
- A survey of Ehlers-Danlos syndrome: hearing, voice, speech and swallowing difficulties. Is there an underlying relationship?.Rheumatology. 1998; 37: 803-804https://doi.org/10.1093/rheumatology/37.7.803
- Dysphonia – A rare early symptom of Ehlers-Danlos syndrome?.Int J Pediatr Otorhinolaryngol. 2008; 72: 1889-1892https://doi.org/10.1016/j.ijporl.2008.09.018
- Anatomy of the human larynx.(eds)in: Rubin JS Sataloff RT Korovin GS Diagnosis and Treatment of Voice Disorders. 4th ed. Plural Publishing, Inc., San Diego, CA2014: 44-45
- Speech and Hearing Science: Anatomy and Physiology.4th ed. Allyn and Bacon, Boston, MA1998
- Understanding Voice Problems: A Physiological Perspective for Diagnosis and Treatment.4th ed. Lippincott Williams & Wilkins, Philadelphia, PA2011
- Insights into the role of collagen in vocal fold health and disease.J Voice. 2017; 31: 520-527https://doi.org/10.1016/j.jvoice.2017.01.008
- Group voice therapy reduces anxiety in patients with dysphonia.J Voice. 2019; 34: 702-708https://doi.org/10.1016/j.jvoice.2019.03.003
- The prevalence of major psychiatric pathologies in patients with voice disorders. ENT-Ear.Nose Throat J. 2003; : 808-814
- Emotional symptoms are secondary to the voice disorder in patients with spasmodic dysphonia.Gen Hosp Psychiatry. 1998; 20: 255-259
- Communication-related affective, behavioral, and cognitive reactions in speakers with spasmodic dysphonia.Laryngoscope Investig Otolaryngol. 2017; 2: 466-470https://doi.org/10.1002/lio2.128
- Executive function and quality of life in individuals with Marfan syndrome.Qual Life Res. 2018; 27: 2057-2065https://doi.org/10.1007/s11136-018-1859-7
- Health- related quality of life in Marfan syndrome: a 10-year follow-up.Health Qual Life Outcomes. 2020; 18: 1-8https://doi.org/10.1186/s12955-020-01633-4
- Correlation between vocal fatigue index and voice handicap index scores in persons with laryngeal pathologies.Funct Disabil J. 2019; 2: 119-124https://doi.org/10.34171/fdj.2.16
- Social and behavioral research in clinical genetics. Living with Marfan syndrome: coping with stigma.Clin Genet. 2005; 68: 6-14https://doi.org/10.1111/j.1399-0004.2005.00446.x
- Meta-analysis: angiotensin-receptor blockers in chronic heart failure and high-risk acute myocardial infarction.Ann Internal Med. 2004; 141: 693-704https://doi.org/10.7326/0003-4819-141-9-200411020-00011
- Antidepressant use among adults: United States. 2015-2018.NCHS Data Brief. 2020; (no 377): 1-8
- Patients’ attitudes regarding treatment for vocal fold atrophy.J Voice. 2019; 34: 763-768https://doi.org/10.1016/j.jvoice.2019.04.012
Article info
Publication history
Published online: May 05, 2022
Accepted:
April 4,
2022
Publication stage
In Press Corrected ProofIdentification
Copyright
© 2022 The Voice Foundation. Published by Elsevier Inc. All rights reserved.