Alström Syndrome Presenting as Isolated Dilated Cardiomyopathy View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2019-03

AUTHORS

Gayatri Nerakh, Prajnya Ranganath

ABSTRACT

Cardiomyopathy is an etiologically heterogeneous condition, and non-syndromic as well as syndromic genetic causes are identified in a significant proportion of cases without a known acquired cause. The present report describes a 2-mo-old boy who presented initially with a referral diagnosis of isolated dilated cardiomyopathy, without any associated dysmorphism or malformations, and with history of similar cardiac disease and early infantile death in an elder male sibling. Next generation sequencing (NGS) based multigene panel testing of the cardiomyopathy-associated genes was done which revealed the diagnosis of Alström syndrome, based on which appropriate management and surveillance could be planned for the child and accurate genetic counseling could be provided to the parents. This report reiterates the fact that genetic testing for cardiomyopathy without an obvious acquired cause helps in identification of the underlying etiology, appropriate management, early diagnosis of syndromic forms, and monitoring and pre-symptomatic intervention for associated extracardiac complications. More... »

PAGES

296-298

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s12098-018-2807-9

DOI

http://dx.doi.org/10.1007/s12098-018-2807-9

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1110227031

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30484169


Indexing Status Check whether this publication has been indexed by Scopus and Web Of Science using the SN Indexing Status Tool
Incoming Citations Browse incoming citations for this publication using opencitations.net

JSON-LD is the canonical representation for SciGraph data.

TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

[
  {
    "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
    "about": [
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Genetics", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Biological Sciences", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Centre for DNA Fingerprinting and Diagnostics", 
          "id": "https://www.grid.ac/institutes/grid.145749.a", 
          "name": [
            "Department of Medical Genetics, Nizam\u2019s Institute of Medical Sciences, Hyderabad, Telangana, India", 
            "Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Nerakh", 
        "givenName": "Gayatri", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Centre for DNA Fingerprinting and Diagnostics", 
          "id": "https://www.grid.ac/institutes/grid.145749.a", 
          "name": [
            "Department of Medical Genetics, Nizam\u2019s Institute of Medical Sciences, Hyderabad, Telangana, India", 
            "Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Ranganath", 
        "givenName": "Prajnya", 
        "id": "sg:person.01204526673.34", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01204526673.34"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1091/mbc.e10-03-0246", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019372372"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.orcp.2016.09.004", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1023285346"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ejmg.2014.06.004", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027051063"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.2174/138920211795677912", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029496259"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00246-012-0296-6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032072205", 
          "https://doi.org/10.1007/s00246-012-0296-6"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ejmg.2014.01.007", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1034031935"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/humu.22796", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042881235"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1210/jc.2005-2633", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064288975"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1075906613", 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2019-03", 
    "datePublishedReg": "2019-03-01", 
    "description": "Cardiomyopathy is an etiologically heterogeneous condition, and non-syndromic as well as syndromic genetic causes are identified in a significant proportion of cases without a known acquired cause. The present report describes a 2-mo-old boy who presented initially with a referral diagnosis of isolated dilated cardiomyopathy, without any associated dysmorphism or malformations, and with history of similar cardiac disease and early infantile death in an elder male sibling. Next generation sequencing (NGS) based multigene panel testing of the cardiomyopathy-associated genes was done which revealed the diagnosis of Alstr\u00f6m syndrome, based on which appropriate management and surveillance could be planned for the child and accurate genetic counseling could be provided to the parents. This report reiterates the fact that genetic testing for cardiomyopathy without an obvious acquired cause helps in identification of the underlying etiology, appropriate management, early diagnosis of syndromic forms, and monitoring and pre-symptomatic intervention for associated extracardiac complications.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1007/s12098-018-2807-9", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": false, 
    "isPartOf": [
      {
        "id": "sg:journal.1019636", 
        "issn": [
          "0019-5456", 
          "0973-7693"
        ], 
        "name": "The Indian Journal of Pediatrics", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "3", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "86"
      }
    ], 
    "name": "Alstr\u00f6m Syndrome Presenting as Isolated Dilated Cardiomyopathy", 
    "pagination": "296-298", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "7ce40ab8b12f45201a10fc4c629f1500197f7bf185dd160dd8ec02a295c58581"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "30484169"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "0417442"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1007/s12098-018-2807-9"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1110227031"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1007/s12098-018-2807-9", 
      "https://app.dimensions.ai/details/publication/pub.1110227031"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T09:37", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000346_0000000346/records_99829_00000004.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://link.springer.com/10.1007%2Fs12098-018-2807-9"
  }
]
 

Download the RDF metadata as:  json-ld nt turtle xml License info

HOW TO GET THIS DATA PROGRAMMATICALLY:

JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1007/s12098-018-2807-9'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1007/s12098-018-2807-9'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s12098-018-2807-9'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s12098-018-2807-9'


 

This table displays all metadata directly associated to this object as RDF triples.

103 TRIPLES      21 PREDICATES      38 URIs      21 LITERALS      9 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1007/s12098-018-2807-9 schema:about anzsrc-for:06
2 anzsrc-for:0604
3 schema:author Nc6d3690af2c74265a2a34a5a29f1f88d
4 schema:citation sg:pub.10.1007/s00246-012-0296-6
5 https://app.dimensions.ai/details/publication/pub.1075906613
6 https://doi.org/10.1002/humu.22796
7 https://doi.org/10.1016/j.ejmg.2014.01.007
8 https://doi.org/10.1016/j.ejmg.2014.06.004
9 https://doi.org/10.1016/j.orcp.2016.09.004
10 https://doi.org/10.1091/mbc.e10-03-0246
11 https://doi.org/10.1210/jc.2005-2633
12 https://doi.org/10.2174/138920211795677912
13 schema:datePublished 2019-03
14 schema:datePublishedReg 2019-03-01
15 schema:description Cardiomyopathy is an etiologically heterogeneous condition, and non-syndromic as well as syndromic genetic causes are identified in a significant proportion of cases without a known acquired cause. The present report describes a 2-mo-old boy who presented initially with a referral diagnosis of isolated dilated cardiomyopathy, without any associated dysmorphism or malformations, and with history of similar cardiac disease and early infantile death in an elder male sibling. Next generation sequencing (NGS) based multigene panel testing of the cardiomyopathy-associated genes was done which revealed the diagnosis of Alström syndrome, based on which appropriate management and surveillance could be planned for the child and accurate genetic counseling could be provided to the parents. This report reiterates the fact that genetic testing for cardiomyopathy without an obvious acquired cause helps in identification of the underlying etiology, appropriate management, early diagnosis of syndromic forms, and monitoring and pre-symptomatic intervention for associated extracardiac complications.
16 schema:genre research_article
17 schema:inLanguage en
18 schema:isAccessibleForFree false
19 schema:isPartOf N21089729a93847b6a9592b0198e74a24
20 Ne1b3d54238e947a0a332e11826aae92a
21 sg:journal.1019636
22 schema:name Alström Syndrome Presenting as Isolated Dilated Cardiomyopathy
23 schema:pagination 296-298
24 schema:productId N58d9ac444eb04623bf22700b3a4f65e0
25 N689f08e4ac944b109b7909b807869117
26 N81f8b74152f94ca6aa7ec4c653eb3976
27 N914880a3b6f54df3a2e34db2257a1b94
28 Nde1901ffe77248ebb1169437eff82ae6
29 schema:sameAs https://app.dimensions.ai/details/publication/pub.1110227031
30 https://doi.org/10.1007/s12098-018-2807-9
31 schema:sdDatePublished 2019-04-11T09:37
32 schema:sdLicense https://scigraph.springernature.com/explorer/license/
33 schema:sdPublisher Nc51228c2c6ee44c4907a7c00e5ab9d87
34 schema:url https://link.springer.com/10.1007%2Fs12098-018-2807-9
35 sgo:license sg:explorer/license/
36 sgo:sdDataset articles
37 rdf:type schema:ScholarlyArticle
38 N0aeb120c8f904e0c9941d0784bc33a71 rdf:first sg:person.01204526673.34
39 rdf:rest rdf:nil
40 N21089729a93847b6a9592b0198e74a24 schema:volumeNumber 86
41 rdf:type schema:PublicationVolume
42 N58d9ac444eb04623bf22700b3a4f65e0 schema:name nlm_unique_id
43 schema:value 0417442
44 rdf:type schema:PropertyValue
45 N689f08e4ac944b109b7909b807869117 schema:name doi
46 schema:value 10.1007/s12098-018-2807-9
47 rdf:type schema:PropertyValue
48 N81f8b74152f94ca6aa7ec4c653eb3976 schema:name dimensions_id
49 schema:value pub.1110227031
50 rdf:type schema:PropertyValue
51 N914880a3b6f54df3a2e34db2257a1b94 schema:name pubmed_id
52 schema:value 30484169
53 rdf:type schema:PropertyValue
54 Na14c34b1de13434885b194cb50548317 schema:affiliation https://www.grid.ac/institutes/grid.145749.a
55 schema:familyName Nerakh
56 schema:givenName Gayatri
57 rdf:type schema:Person
58 Nc51228c2c6ee44c4907a7c00e5ab9d87 schema:name Springer Nature - SN SciGraph project
59 rdf:type schema:Organization
60 Nc6d3690af2c74265a2a34a5a29f1f88d rdf:first Na14c34b1de13434885b194cb50548317
61 rdf:rest N0aeb120c8f904e0c9941d0784bc33a71
62 Nde1901ffe77248ebb1169437eff82ae6 schema:name readcube_id
63 schema:value 7ce40ab8b12f45201a10fc4c629f1500197f7bf185dd160dd8ec02a295c58581
64 rdf:type schema:PropertyValue
65 Ne1b3d54238e947a0a332e11826aae92a schema:issueNumber 3
66 rdf:type schema:PublicationIssue
67 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
68 schema:name Biological Sciences
69 rdf:type schema:DefinedTerm
70 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
71 schema:name Genetics
72 rdf:type schema:DefinedTerm
73 sg:journal.1019636 schema:issn 0019-5456
74 0973-7693
75 schema:name The Indian Journal of Pediatrics
76 rdf:type schema:Periodical
77 sg:person.01204526673.34 schema:affiliation https://www.grid.ac/institutes/grid.145749.a
78 schema:familyName Ranganath
79 schema:givenName Prajnya
80 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01204526673.34
81 rdf:type schema:Person
82 sg:pub.10.1007/s00246-012-0296-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032072205
83 https://doi.org/10.1007/s00246-012-0296-6
84 rdf:type schema:CreativeWork
85 https://app.dimensions.ai/details/publication/pub.1075906613 schema:CreativeWork
86 https://doi.org/10.1002/humu.22796 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042881235
87 rdf:type schema:CreativeWork
88 https://doi.org/10.1016/j.ejmg.2014.01.007 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034031935
89 rdf:type schema:CreativeWork
90 https://doi.org/10.1016/j.ejmg.2014.06.004 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027051063
91 rdf:type schema:CreativeWork
92 https://doi.org/10.1016/j.orcp.2016.09.004 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023285346
93 rdf:type schema:CreativeWork
94 https://doi.org/10.1091/mbc.e10-03-0246 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019372372
95 rdf:type schema:CreativeWork
96 https://doi.org/10.1210/jc.2005-2633 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064288975
97 rdf:type schema:CreativeWork
98 https://doi.org/10.2174/138920211795677912 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029496259
99 rdf:type schema:CreativeWork
100 https://www.grid.ac/institutes/grid.145749.a schema:alternateName Centre for DNA Fingerprinting and Diagnostics
101 schema:name Department of Medical Genetics, Nizam’s Institute of Medical Sciences, Hyderabad, Telangana, India
102 Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India
103 rdf:type schema:Organization
 




Preview window. Press ESC to close (or click here)


...