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 Table of Contents  
LETTER TO THE EDITOR
Year : 2022  |  Volume : 8  |  Issue : 3  |  Page : 191-192

Ehlers–Danlos syndrome Type VI with mitral valve prolapse and regurgitation


1 Department of Medicine, Datta Meghe Institute of Medical Sciences, Wardha, India
2 Department of Cardiology, Nair Hospital, Mumbai, Maharashtra, India
3 Department of Pathology, Datta Meghe Institute of Medical Sciences, Wardha, India

Date of Submission27-Jul-2022
Date of Acceptance27-Nov-2022
Date of Web Publication20-Dec-2022

Correspondence Address:
Sourya Acharya
Department of Medicine, Datta Meghe Institute of Medical Sciences, Wardha, Maharashtra
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jpcs.jpcs_40_22

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How to cite this article:
Acharya S, Kamat S, Shukla S, Giri A, Kumar S. Ehlers–Danlos syndrome Type VI with mitral valve prolapse and regurgitation. J Pract Cardiovasc Sci 2022;8:191-2

How to cite this URL:
Acharya S, Kamat S, Shukla S, Giri A, Kumar S. Ehlers–Danlos syndrome Type VI with mitral valve prolapse and regurgitation. J Pract Cardiovasc Sci [serial online] 2022 [cited 2023 Feb 1];8:191-2. Available from: https://www.j-pcs.org/text.asp?2022/8/3/191/364543




  Introduction Top


Ehlers–Danlos syndrome (EDS) is a group of rare genetic disorders affecting connective tissue. EDS is characterized by several clinical features such as hyperextensibility of the skin, joint hypermobility, and tissue fragility of the body tissues. The general frequency of EDSs is 1 in 5000.[1] The international classification of EDS recognizes 13 subtypes. Although clinical diagnostic criteria have been laid down, still patients may have superimposed clinical features of different types. The cardiac-valvular EDS is a subtype where cardiac valves (mitral, aortic) undergo myxomatous degeneration leading to regurgitation.[1]

Cardiac abnormalities such as mitral valve prolapse (MVP) are reported to be common features of EDS, and it has been suggested that the majority of patients with type IV EDS will have cardiac involvement and vascular aneurysms.

EDS type VI which is also known as ocular type is an autosomal recessively inherited disorder. Lysyl hydroxylase deficiency leads to a decrease in both the hydroxylysine content of collagen and the cross-links in collagen fibers. The ocular abnormalities are blue sclera and keratoconus.[2]

Here, we report a rare case of EDS type VI with cardiac anomalies and blue sclera along with the other usual characteristic clinical features.


  Case Report Top


A 16-year-old female presented to the Emergency Department of this hospital with chief complaints of palpitations. On examination, she had hyperextensible joints, arachnodactyly, facial dysmorphism, and blue sclera [Figure 1]. Cardiac auscultation revealed a grade IV/VI pansystolic murmur at the apex radiating to the left axilla. Two-dimensional echocardiography revealed MVP [Figure 2] and color Doppler showed severe mitral regurgitation [Figure 3]. Mitral valve replacement with tricuspid annuloplasty was planned.
Figure 1: Hyperextensible joints, arachnodactyly, blue sclera, and facial dysmorphism.

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Figure 2: 2D echo showing mitral valve prolapse with mitral regurgitation. 2D: Two-dimensional.

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Figure 3: 2D echo showing the mitral regurgitant jet. 2D: Two-dimensional.

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  Discussion Top


Connective tissue disorders known as EDSs can be inherited and range widely in their genetic causes as well as how they impact the body. There are now 13 subtypes in the classification system for EDSs. Each EDS subtype has a set of clinical criteria that aid in diagnosis; the most appropriate subtype will be determined by matching a patient's physical symptoms and signs to both the major and minor criteria. With the exception of hypermobile EDS (hEDS), all EDS subtypes require confirmation by molecular testing because there is a significant symptom overlap between them and the other connective tissue illnesses, such as hypermobility spectrum disorders. However, a provisional diagnosis can be made just based on clinical signs and symptoms.[3],[4]

Cardiac variant of EDS can be diagnosed based on severe progressive cardiac-valvular problems (aortic valve and mitral valve) along with skin hyperextensibility and joint hypermobility, whereas ocular variant of EDS can be diagnosed based on thin cornea, keratoconus, keratoglobus, and blue sclera.[4],[5],[6]

A final diagnosis requires confirmation through molecular testing. Cardiac manifestations are more common in patients with EDS type IV, whereas ocular manifestations are more common in EDS type VI.[6] It is very rare to have a patient which has EDS with both cardiac and ocular manifestations. Our case report highlights such a rare case.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given her consent for her images and other clinical information to be reported in the journal. The patient understands that her name and initials will not be published and due efforts will be made to conceal her identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Kaurani P, Marwah N, Kaurani M, Padiyar N. Ehlers danlos syndrome – A case report. J Clin Diagn Res 2014;8:256-8.  Back to cited text no. 1
    
2.
Badauy CM, Gomes SS, Sant'Ana Filho M, Chies JA. Ehlers-danlos syndrome (EDS) type IV: Review of the literature. Clin Oral Investig 2007;11:183-7.  Back to cited text no. 2
    
3.
Kivirikko KI. Collagens and their abnormalities in a wide spectrum of diseases. Ann Med 1993;25:113-26.  Back to cited text no. 3
    
4.
Hartsfield JK Jr, Kousseff BG. Phenotypic overlap of Ehlers-danlos syndrome types IV and VIII. Am J Med Genet 1990;37:465-70.  Back to cited text no. 4
    
5.
Fajardo-Jiménez MJ, Tejada-Moreno JA, Mejía-García A, Villegas-Lanau A, Zapata-Builes W, Restrepo JE, et al. Ehlers-Danlos: A literature review and case report in a Colombian woman with multiple comorbidities. Genes (Basel) 2022;13:10.3390/genes13112118.  Back to cited text no. 5
    
6.
Kosho T, Mizumoto S, Watanabe T, Yoshizawa T, Miyake N, Yamada S. Recent advances in the pathophysiology of musculocontractural ehlers-danlos syndrome. Genes (Basel) 2019;11:43.  Back to cited text no. 6
    


    Figures

  [Figure 1], [Figure 2], [Figure 3]



 

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