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Case Report
Peer-Review Record

Ballooning and Bursting of Barrels and Pipes: A Rare Case of Suspected Vascular Ehlers–Danlos Disease

Cardiogenetics 2024, 14(4), 204-210; https://doi.org/10.3390/cardiogenetics14040016
by Ogechi Agogbuo 1, Sri Harsha Kanuri 2,*, Luis Salinas 1, Mohamed Goweba 1, Khashayar Vahdat 3, Oscar Chastian 3 and Larry Frase 4
Reviewer 1: Anonymous
Reviewer 2:
Cardiogenetics 2024, 14(4), 204-210; https://doi.org/10.3390/cardiogenetics14040016
Submission received: 20 September 2024 / Revised: 29 October 2024 / Accepted: 4 November 2024 / Published: 6 November 2024
(This article belongs to the Section Rare Disease-Genetic Syndromes)

Round 1

Reviewer 1 Report

Comments and Suggestions for Authors

Review of Ballooning an bursting of Barrels and Pipes; A Rare Case of Vascular Ehlers Danlos Disease

In this article, Agobuo et al present a case study of a patient with vascular Ehlers-Danlos syndrome, a rare disease and a rare subtype of the disease.  The patient presented later in life compared to other classical Ehlers-Danlos patients.  Multiple vascular complications were identified the patient including splenic aneurysm, a vascular graft, and post-operative complications resulting in amputation.  This article presents an outstanding case study that should be published after answering the questions and points below.

1.       The authors indicate a gene candidate, COL3A, that is routinely mutated in Ehlers-Danlos patients.  However, no genetic results are presented in the paper.  What genetic sequencing results were performed to genetically identify the mutated gene causing the disease?

2.       Were any other functional assays performed (e.g. clinical studies, assays, metabolomics, proteomic) in order to confirm the activity of the disease?

3.       Have other patients or reports had patients that presented similarly from a clinical perspective?  For example, this patient presented at a relatively older age for a rare disease and with several complications.  Is there enough data to know from a percent perspective to say how common this presentation was or whether it is incredibly unique?

Author Response

Comments and Suggestions for Authors

Review of Ballooning an bursting of Barrels and Pipes; A Rare Case of Vascular Ehlers Danlos Disease

In this article, Agobuo et al present a case study of a patient with vascular Ehlers-Danlos syndrome, a rare disease and a rare subtype of the disease.  The patient presented later in life compared to other classical Ehlers-Danlos patients.  Multiple vascular complications were identified the patient including splenic aneurysm, a vascular graft, and post-operative complications resulting in amputation.  This article presents an outstanding case study that should be published after answering the questions and points below.

  • The authors indicate a gene candidate, COL3A, that is routinely mutated in Ehlers-Danlos patients.  However, no genetic results are presented in the paper.  What genetic sequencing results were performed to genetically identify the mutated gene causing the disease?

Response: Thank you for your review and valuable comments. Rheumatologist made the diagnosis of vascular EDS after performing necessary investigations including negative ANA titer,  ANCA proteinase 3 negative, negative CCP antibody,  negative anti-DNA antibody,  negative DS antibody, rheumatoid factor negative, and myeloperoxidase antibody negative. Genetic testing and sequencing was not performed as the patient was lost to follow up. All above-mentioned changes were carefully incorporated in the manuscript. All the new changes were made in the track change mode in modified version of and final version of the manuscript. Please review the changes and accept the manuscript in the current edited form.

  1. Were any other functional assays performed (e.g. clinical studies, assays, metabolomics, proteomic) in order to confirm the activity of the disease?

Response: Thank you for your review and valuable comments. Clinical studies, clinical assays, proteomics and metabolomics to confirm the diagnosis of vEDS were not performed as the patient was lost to follow up.All above-mentioned changes were carefully incorporated in the manuscript. All the new changes were made in the track change mode in modified version of and final version of the manuscript. Please review the changes and accept the manuscript in the current edited form.

  1. Have other patients or reports had patients that presented similarly from a clinical perspective?  For example, this patient presented at a relatively older age for a rare disease and with several complications.  Is there enough data to know from a percent perspective to say how common this presentation was or whether it is incredibly unique?

Response: Thank you for your review and valuable comments. Although 60% of the vEDS are diagnosed before the age 18 years due to their positive family history, their clinical presentation is delayed until their end-organ complications crystalize and unfold. Rupture of arterial vessels and hollow digestive organs are the most common complications in vEDS, due to which these patients end up presenting to the emergency department. Apparently, it is reported that, vascular complication surface in 25% of the vEDS patients before 20 years, whereas in 80% of these patients vascular sequelae come into being 40 years. All the new changes were made in the track change mode in modified version of and final version of the manuscript. Please review the changes and accept the manuscript in the current edited form.

Reviewer 2 Report

Comments and Suggestions for Authors

this needs major editing and english corrections to this overlong case report 

I am confused about first and second admissions and procedures done in both .Please clarify and shorten also 

cut out a lot of the discussion 

also what happened to the patient eventually

Comments on the Quality of English Language

needs shortening  and more editing of the clinical history

Author Response

Comments and Suggestions for Authors

this needs major editing and english corrections to this overlong case report 

I am confused about first and second admissions and procedures done in both . Please clarify and shorten also 

cut out a lot of the discussion 

also what happened to the patient eventually

Comments on the Quality of English Language

needs shortening  and more editing of the clinical history

Response: Thank you for your review and valuable comments.

First and second admissions and procedures are edited, cut-shorten and clarified in a succinct manner.  Shortening and editing of clinical history has been done.

Discussion has also been edited and modified as per suggestions.

The Rheumatologist made the diagnosis of vascular EDS and referred the patient to be followed up at a specialist center and for genetic counseling. He was referred to volunteer home health physical therapy. Due to financial issues, the patient was unable to afford medical care. Moreover, pertinent clinical studies, clinical assays, proteomics and metabolomics to confirm the diagnosis of vEDS were not performed as the patient was lost to follow up.

Major editing and English revision has been performed in the entire manuscript.

All above-mentioned changes were carefully incorporated in the manuscript. All the new changes were made in the track change mode in modified version of and final version of the manuscript. Please review the changes and accept the manuscript in the current edited form.

 

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