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Holt-Oram Syndrome in a Patient with Crohn's Disease: a Rare Case Report and Literature Review.

ABSTRACT: Introduction:Holt-Oram syndrome (HOS) is an uncommon autosomal dominant disorder defined by congenital cardiac defects, some anatomical deformities in the upper limb and conduction abnormalities. Sequence alteration of TBX5 gene located on chromosome 12 has associated with HOS. Case report:We present the case of a 26-year-old female with known upper limb alteration and ventricular septal defect who later in life developed Crohn's disease. Conclusion:To the best of our knowledge association of Holt-Oram syndrome with Crohn's disease has not been reported in literature before. Therefore, a possible genetic connection between Holt-Oram syndrome and Crohn's disease remains to be determined.

SUBMITTER: Arkoumanis PT

PROVIDER: S-EPMC6194948 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature

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Holt-Oram Syndrome in a Patient with Crohn's Disease: a Rare Case Report and Literature Review.

Arkoumanis Panagiotis-Theofanis PT Gklavas Antonios A Karageorgou Margarita M Gourzi Polyxeni P Mantzaris Gerassimos G Pantou Malena M Papaconstantinou Ioannis I

Medical archives (Sarajevo, Bosnia and Herzegovina) 20181001 4

<h4>Introduction</h4>Holt-Oram syndrome (HOS) is an uncommon autosomal dominant disorder defined by congenital cardiac defects, some anatomical deformities in the upper limb and conduction abnormalities. Sequence alteration of TBX5 gene located on chromosome 12 has associated with HOS.<h4>Case report</h4>We present the case of a 26-year-old female with known upper limb alteration and ventricular septal defect who later in life developed Crohn's disease.<h4>Conclusion</h4>To the best of our knowl ...[more]

PMID: 30514998

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Project description:BACKGROUND: Holt-Oram syndrome (HOS) is an autosomal dominant disorder characterised by upper limb anomalies and congenital heart defects. We present epidemiological and clinical aspects of HOS patients using data from EUROCAT (European Surveillance of Congenital Anomalies) registries. METHODS: The study was based on data collected during 1990-2011 by 34 registries. The registries are population-based and use multiple sources of information to collect data on all types of birth using standardized definitions, methodology and coding. Diagnostic criteria for inclusion in the study were the presence of radial ray abnormalities and congenital heart disease (CHD), or the presence of either radial ray anomaly or CHD, with family history of HOS. RESULTS: A total of 73 cases of HOS were identified, including 11 (15.1%) TOPFA and 62 (84.9%) LB. Out of 73 HOS cases, 30.8% (20/65) were suspected prenatally, 55.4% (36/65) at birth, 10.7% (7/65) in the first week of life, and 3.1% (2/65) in the first year of life. The prenatal detection rate was 39.2% (20/51), with no significant change over the study period. In 55% (11/20) of prenatally detected cases, parents decided to terminate pregnancy. Thumb anomalies were reported in all cases. Agenesis/hypoplasia of radius was present in 49.2% (30/61), ulnar aplasia/hypoplasia in 24.6% (15/61) and humerus hypoplasia/phocomelia in 42.6% (26/61) of patients. Congenital heart defects (CHD) were recorded in 78.7% (48/61) of patients. Isolated septal defects were present in 54.2 (26/48), while 25% (12/48) of patients had complex/severe CHD. The mean prevalence of HOS diagnosed prenatally or in the early years of life in European registries was 0.7 per 100,000 births or 1:135,615 births. CONCLUSIONS: HOS is a rare genetic condition showing regional variation in its prevalence. It is often missed prenatally, in spite of the existence of major structural anomalies. When discovered, parents in 45% (9/20) of cases opt for the continuation of pregnancy. Although a quarter of patients have severe CHD, the overall first week survival is very good, which is important information for counselling purposes.

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Holt-Oram Syndrome in a Patient with Crohn's Disease: a Rare Case Report and Literature Review.

Publications

Holt-Oram Syndrome in a Patient with Crohn's Disease: a Rare Case Report and Literature Review.

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