Congenital peritoneopericardial diaphragmatic hernia in a family of Persian cats

Abstract

Case series summaryThe 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 informationThis 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.

The surgical repair of a congenital peritoneopericardial diaphragmatic hernia in Maine Coon cat

“…Previous reports suggested that the detection of the PPDH often happened by chance from the routine examination (Margolis et al, 2018). However, the animals showed clinical signs in this present case report, such as labored breathing and intermittent cough, and surgical treatment is the best effective treatment.…”

“…Peritoneopericardial diaphragmatic hernia (PPDH) is a common congenital pericardial defect encountered in cats (Khan et al, 2019;Hodgkiss-Geere et al, 2015;Banz and Gottfried., 2010;Margolis et al, 2018). PPDH is an abnormal development of the dorsolateral septum transversum or the lateral pleuro-peritoneal folds that cause the communication between the peritoneal and pericardial sac through the diaphragm (Berry et al, 1990).…”

Fatal congenital peritoneopericardial diaphragmatic hernia in a sable antelope (Hippotragus niger) calf

“…The few reported cases in animals were diagnosed in dogs and cats, calves, horses and alpacas. [1][2][3][4][5][6][7][8][9] This condition has not been reported to date in any wild counterparts, especially not in wild antelope species, as documented in this case.…”

“…Maine coon cats, Himalayan cats and Weimaraner dogs showed an abnormal high prevalence for this abnormality, indicating the possibility of a heritable predisposition for this condition in these breeds 3 . Congenital peritoneopericardial diaphragmatic hernias in cats and dogs are often reported in conjunction with a variety of co‐existing congenital defects, that is, skeletal and cardiac abnormalities 3,7 . Reports on species, other than companion animals, with congenital peritoneopericardial diaphragmatic hernias are limited to calves, alpacas and horses 4–6,14 .…”

Pulmonary adenocarcinoma causing oesophageal and bronchial compression in a cat with concurrent peritoneopericardial diaphragmatic hernia

“…[2][3][4] One study suggested a probable hereditary basis for PPDH in Persian cats. 13 Diagnosis of PPDH can usually be achieved with plain radiography. The most common abnormal findings on thoracic radiography include the detection of an enlarged and globoid cardiac silhouette, presence of abdominal organs in the pericardial sac, poorly appreciable diaphragmatic borders and possible identification of a mesothelial remnant between the caudal cardiac silhouette and the diaphragm (usually seen ventral to or superimposed over the caudal vena cava on lateral views).…”