E-ISSN 0976-2833 | ISSN 0975-3583
 
2021, Vol: 12, Issue: 1
12 / 1Current Issue Online First Archive Aims and Scope Abstracting & Indexing Most Accessed Articles Most Downloaded Articles Most Cited Articles
Required files to be uploaded

Author Contribution Form _(v2r)_
Copyright Form_(v2r)_

Case Report 


A RARE CAUSE OF AORTIC STENOSIS IN A SIBLING - MORQUIO SYNDROME - A CASE REPORT

Arunkumar Subramanian, Praveen Babu R, Sakthivel V, Muthuisai Sankar.

Abstract
Morquio syndrome is an uncommon variant of autosomal recessive disorder caused by the deficiency of N acetyl galactosamine 6 sulfatase (GALNS) - a lysosomal enzyme, causing dental, cardiac and skeletal abnormalities. A male patient, 29 years of age came with complaints of difficulty in breathing since one month. He was born of a second degree consanguineous marriage and has no mental retardation. On clinical examination he was short in stature, had corneal clouding, widely spaced teeth, genu valgum, joint hypermobility, pectus carinatum and kyphoscoliosis. He had an ejection systolic murmur in aortic area on cardiovascular examination. He has one 26 year old sister with similar physical appearance and cardiac abnormalities. In Echocardiography they both found to have aortic valve calcification with severe aortic stenosis with mild aortic regurgitation. X ray findings of the hand showed shortening of the metacarpal with hypoplasia of the carpal bones, platyspondly of the cervical and thoracic vertebra, genu valgum and coxa valga defect. So he was diagnosed as adult mucopolysaccharoidosis type IV-A (Morquio syndrome) which was confirmed after clinical examination and genetic analysis

Key words: Morquio syndrome, mucopolysaccharidosis, aortic stenosis, Echocardiography


 
ARTICLE TOOLS
Abstract
PDF Fulltext
How to cite this articleHow to cite this article
Citation Tools
Related Records
 Articles by Arunkumar Subramanian
Articles by Praveen Babu R
Articles by Sakthivel V
Articles by Muthuisai Sankar
on Google
on Google Scholar


How to Cite this Article
Pubmed Style

Subramanian A, R PB, V S, Sankar M. A RARE CAUSE OF AORTIC STENOSIS IN A SIBLING - MORQUIO SYNDROME - A CASE REPORT. . 2021; 12(1): 10-12. doi:10.31838/jcdr.2021.12.01.03

Web Style

Subramanian A, R PB, V S, Sankar M. A RARE CAUSE OF AORTIC STENOSIS IN A SIBLING - MORQUIO SYNDROME - A CASE REPORT. http://www.jcdronline.org//?mno=125924 [Access: March 26, 2021]. doi:10.31838/jcdr.2021.12.01.03

AMA (American Medical Association) Style

Subramanian A, R PB, V S, Sankar M. A RARE CAUSE OF AORTIC STENOSIS IN A SIBLING - MORQUIO SYNDROME - A CASE REPORT. . 2021; 12(1): 10-12. doi:10.31838/jcdr.2021.12.01.03


Vancouver/ICMJE Style

Subramanian A, R PB, V S, Sankar M. A RARE CAUSE OF AORTIC STENOSIS IN A SIBLING - MORQUIO SYNDROME - A CASE REPORT. . (2021), [cited March 26, 2021]; 12(1): 10-12. doi:10.31838/jcdr.2021.12.01.03


Harvard Style

Subramanian, A., R, . P. B., V, . S. & Sankar, . M. (2021) A RARE CAUSE OF AORTIC STENOSIS IN A SIBLING - MORQUIO SYNDROME - A CASE REPORT. , 12 (1), 10-12. doi:10.31838/jcdr.2021.12.01.03


Turabian Style

Subramanian, Arunkumar, Praveen Babu R, Sakthivel V, and Muthuisai Sankar. 2021. A RARE CAUSE OF AORTIC STENOSIS IN A SIBLING - MORQUIO SYNDROME - A CASE REPORT. Journal of Cardiovascular Disease Research, 12 (1), 10-12. doi:10.31838/jcdr.2021.12.01.03


Chicago Style

Subramanian, Arunkumar, Praveen Babu R, Sakthivel V, and Muthuisai Sankar. "A RARE CAUSE OF AORTIC STENOSIS IN A SIBLING - MORQUIO SYNDROME - A CASE REPORT." Journal of Cardiovascular Disease Research 12 (2021), 10-12. doi:10.31838/jcdr.2021.12.01.03


MLA (The Modern Language Association) Style

Subramanian, Arunkumar, Praveen Babu R, Sakthivel V, and Muthuisai Sankar. "A RARE CAUSE OF AORTIC STENOSIS IN A SIBLING - MORQUIO SYNDROME - A CASE REPORT." Journal of Cardiovascular Disease Research 12.1 (2021), 10-12. Print. doi:10.31838/jcdr.2021.12.01.03


APA (American Psychological Association) Style

Subramanian, A., R, . P. B., V, . S. & Sankar, . M. (2021) A RARE CAUSE OF AORTIC STENOSIS IN A SIBLING - MORQUIO SYNDROME - A CASE REPORT. Journal of Cardiovascular Disease Research, 12 (1), 10-12. doi:10.31838/jcdr.2021.12.01.03




Most Viewed Articles
  • Reduced nitrate level in individuals with hypertension and diabetes
    Shiekh Gazalla Ayub, Taha Ayub, Saquib Naveed Khan, Rubiya Dar, Khurshid Iqbal Andrabi
    . 2011; 2(3): 172-176
    » Abstract » doi: 10.4103/0975-3583.85264

  • Factor analysis of risk variables associated with metabolic syndrome in adult Asian Indians
    Mithun Das, Susil Pal, Arnab Ghosh
    . 2010; 1(2): 86-91
    » Abstract » doi: 10.4103/0975-3583.64442

  • Typical coronary artery aneurysm exactly within drug-eluting stent implantation region in a patient with rheumatoid arthritis
    Ying Zheng, Jing-yuan Mao
    . 2012; 3(4): 329-331
    » Abstract » doi: 10.4103/0975-3583.102725

  • Putative antioxidant property of sesame oil in an oxidative stress model of myocardial injury
    Mohamed T.S. Saleem , Madhusudhana C. Chetty , S. Kavimani
    . 2013; 4(3): 177-181
    » Abstract » doi: 10.1016/j.jcdr.2013.07.001

  • Medical and Social Characteristics and Quality of Life of Children with Urinary System Diseases (on the Example of Urinary System Infection)
    A.A. Maksimova, N.V. Savvina, N.M. Gogolev, A.I. Protopopova
    . 2020; 11(2): 194-201
    » Abstract » doi: 10.31838/jcdr.2020.11.02.33

    •
    Most Downloaded
  • Assessment of the Knowledge and Attitude of Male Students towards Smoking Based on Health Belief Model
    Rafat Rezapour-Nasrabad, Fatemeh Izadi, Atousa Karimi, Fateme Shariati Far, Khatereh Rostami, Amin Kiani, Afsaneh Ghasemi
    . 2020; 11(4): 116-121
    » Abstract » doi: 10.31838/jcdr.2020.11.04.20

  • Diabetic Retinopathy, The Automated of Detection of Retinal Fundus Images with Probabilistic Neural Networks (PNN)
    Elvina Amanda, Marischa Elveny, Rahmad Syah
    . 2020; 11(4): 302-306
    » Abstract » doi: 10.31838/jcdr.2020.11.04.54

  • Investigation of the Relationship between Social Support and Adherence to Treatment among Elderly Individuals with Type II Diabetes Mellitus
    Afsaneh Ghasemi, Rafat Rezapour-Nasrabad, Leila Nikrouz, Fatemeh Izadi, Atousa Karimi, Fateme Shariati Far, Zahra Khiali
    . 2020; 11(4): 122-129
    » Abstract » doi: 10.31838/jcdr.2020.11.04.21

  • Cardio-Vascular Disease Classification Using Stacked Segmentation Model and Convolutional Neural Networks
    G. Charlyn Pushpa Latha, S. Sridhar, S. Prithi, T. Anitha
    . 2020; 11(4): 26-31
    » Abstract » doi: 10.31838/jcdr.2020.11.04.05

  • Investigating the Lifestyle Related to Cancer Risk Factors among People of Gonbad City in 2019
    Nasibeh Zerangian, Namamali Azadi, Mahnaz Solhi, Morteza Mansourian
    . 2020; 11(4): 91-97
    » Abstract » doi: 10.31838/jcdr.2020.11.04.16

    •
    Most Cited Articles
    This is an open access journal which means that all content is freely available without charge to the user or his/her institution. Users are allowed to read, download, copy, distribute, print, search, or link to the full texts of the articles in this journal without asking prior permission from the publisher or the author. This is in accordance with the Budapest Open Access Initiative (BOAI) definition of open access.
    The articles in Journal of Cardiovascular Disease Research are open access articles licensed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc-sa/3.0/) which permits unrestricted, non-commercial use, distribution and reproduction in any medium, provided the work is properly cited.
    Copyright © 2021 Journal of Cardiovascular Disease Research All Rights Reserved. Subject to change without notice from or liability to Journal of Cardiovascular Disease Research.
    For best results, please use Internet Explorer or Google Chrome

    Contact Information



    Branch Office/Support Office for journal:

    Journal of Cardiovascular Disease Research 

    Publication Office

    Advanced Scientific Research,
    21, Thyamotharan Street, Arisipalayam
    Salem - 636009

    Email : editor@jcdronline.org 

    support : support@jcdronline.org

     
    POLICIES & JOURNAL LINKS
    Author Login
    Reviewer Login
    About Publisher
    Advertising Policy
    Author's Rights and Obligations
    Conflict of Interest Policy
    Digital Archiving & Preservation Policies
    Editorial Policies
    Peer Review Policy
    Editorial & Peer Review Process
    License Information
    Plagiarism Policy
    Privacy Policy
    Protection of Research Participants (Statement On Human And Animal Rights)
    Publication Ethics and Publication Malpractice Statement
    Corrections, Retractions & Expressions of Concern
    Self-Archiving Policies
    Statement of Informed Consent
    Terms of Use