Congenital peritoneopericardial diaphragmatic hernia in a family of Persian cats

Case series summary The congenital midline defects of peritoneopericardial diaphragmatic hernia (PPDH) and omphalocele are believed to be related developmental defects, and have both been described in cats and dogs. This case series describes multiple cases of PPDH and omphalocele in related cats. T...

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Main Authors: Carol Margolis, Maja Zakošek Pipan, Jolie Demchur, Matan Or, Paula Henthorn, Margret L Casal
Format: Article
Language:English
Published: SAGE Publishing 2018-10-01
Series:Journal of Feline Medicine and Surgery Open Reports
Online Access:https://doi.org/10.1177/2055116918804305
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author Carol Margolis
Maja Zakošek Pipan
Jolie Demchur
Matan Or
Paula Henthorn
Margret L Casal
author_facet Carol Margolis
Maja Zakošek Pipan
Jolie Demchur
Matan Or
Paula Henthorn
Margret L Casal
author_sort Carol Margolis
collection DOAJ
description Case series summary The congenital midline defects of peritoneopericardial diaphragmatic hernia (PPDH) and omphalocele are believed to be related developmental defects, and have both been described in cats and dogs. This case series describes multiple cases of PPDH and omphalocele in related cats. The majority of cats affected with midline defects (PPDH or omphalocele) were male, consistent with previous reports of male overrepresentation. Relevance and novel information This is the first report of a family of Persian cats affected by PPDH and/or omphalocele. Clinical findings and pedigree information are suggestive of an autosomal recessive mode of inheritance. However, other modes of inheritance cannot be ruled out owing to limited sample size. The findings in this family and previous reports of Persians affected by PPDH warrant further investigation. Based on this information, recommendations for breeding populations of Persians and long-haired cats should include thoracic radiographs to screen for PPDH until a DNA-based genetic test is available.
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spelling doaj.art-fd9d3786f47246f39758952e90f916332022-12-21T18:52:41ZengSAGE PublishingJournal of Feline Medicine and Surgery Open Reports2055-11692018-10-01410.1177/2055116918804305Congenital peritoneopericardial diaphragmatic hernia in a family of Persian catsCarol Margolis0Maja Zakošek Pipan1Jolie Demchur2Matan Or3Paula Henthorn4Margret L Casal5Section of Medical Genetics, Department of Clinical Sciences and Advanced Medicine, MJ Ryan Veterinary Hospital of the University of Pennsylvania, Philadelphia, PA, USAClinic for Reproduction and Large Animals, Veterinary Faculty, University of Ljubljana, Ljubljana, SloveniaSection of Medical Genetics, Department of Clinical Sciences and Advanced Medicine, MJ Ryan Veterinary Hospital of the University of Pennsylvania, Philadelphia, PA, USASection of Medical Genetics, Department of Clinical Sciences and Advanced Medicine, MJ Ryan Veterinary Hospital of the University of Pennsylvania, Philadelphia, PA, USASection of Medical Genetics, Department of Clinical Sciences and Advanced Medicine, MJ Ryan Veterinary Hospital of the University of Pennsylvania, Philadelphia, PA, USASection of Medical Genetics, Department of Clinical Sciences and Advanced Medicine, MJ Ryan Veterinary Hospital of the University of Pennsylvania, Philadelphia, PA, USACase series summary The congenital midline defects of peritoneopericardial diaphragmatic hernia (PPDH) and omphalocele are believed to be related developmental defects, and have both been described in cats and dogs. This case series describes multiple cases of PPDH and omphalocele in related cats. The majority of cats affected with midline defects (PPDH or omphalocele) were male, consistent with previous reports of male overrepresentation. Relevance and novel information This is the first report of a family of Persian cats affected by PPDH and/or omphalocele. Clinical findings and pedigree information are suggestive of an autosomal recessive mode of inheritance. However, other modes of inheritance cannot be ruled out owing to limited sample size. The findings in this family and previous reports of Persians affected by PPDH warrant further investigation. Based on this information, recommendations for breeding populations of Persians and long-haired cats should include thoracic radiographs to screen for PPDH until a DNA-based genetic test is available.https://doi.org/10.1177/2055116918804305
spellingShingle Carol Margolis
Maja Zakošek Pipan
Jolie Demchur
Matan Or
Paula Henthorn
Margret L Casal
Congenital peritoneopericardial diaphragmatic hernia in a family of Persian cats
Journal of Feline Medicine and Surgery Open Reports
title Congenital peritoneopericardial diaphragmatic hernia in a family of Persian cats
title_full Congenital peritoneopericardial diaphragmatic hernia in a family of Persian cats
title_fullStr Congenital peritoneopericardial diaphragmatic hernia in a family of Persian cats
title_full_unstemmed Congenital peritoneopericardial diaphragmatic hernia in a family of Persian cats
title_short Congenital peritoneopericardial diaphragmatic hernia in a family of Persian cats
title_sort congenital peritoneopericardial diaphragmatic hernia in a family of persian cats
url https://doi.org/10.1177/2055116918804305
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