Dilated cardiomyopathy in a cat with congenital hyposomatotropism.

Case summary A 7-month-old domestic shorthair cat was presented for evaluation of stunted growth, recurrent hypoglycaemia during the first months of its life and altered mentation. Complete blood count and biochemistry were unremarkable, except for mildly elevated serum creatinine concentration (despite low muscle mass) and concurrent isosthenuria. Hyposomatotropism was diagnosed based on persistent low circulating insulin-like growth factor 1 concentrations and a lack of response of circulating growth hormone (GH) concentration after the administration of GH-releasing hormone. Other endocrinopathies such as hypothyroidism and hypoadrenocorticism were excluded. MRI of the brain revealed a fluid-filled empty sella tursica, consistent with a pituitary cyst and atrophy/hypoplasia of the pituitary. Echocardiography was unremarkable at the time of diagnosis of hyposomatotropism. Three months later, ovariohysterectomy revealed immature ovaries, raising the suspicion of luteinising and follicle-stimulating hormone deficiency. At 1 year of age, the cat developed congestive heart failure secondarily to dilated cardiomyopathy (DCM) with severely reduced left ventricular systolic function and died a few days later. Pathology showed atrophy of the adenohypophysis, epithelial delineation of the pituitary cysts, mild cardiomegaly, multifocal fibrosis of the left ventricle and a mild, multifocal, chronic epicarditis. Relevance and novel information GH deficiency is a very rare endocrinopathy in cats. This is the first case to describe the development of DCM with concurrent hyposomatotropism, which has previously been reported in human medicine. Other notable abnormalities that could be related to GH deficiency are juvenile self-limiting hypoglycaemia, behavioural changes and possible nephropathy

Whole Genome Sequencing Identified a 16 Kilobase Deletion on ECA13 Associated with Distichiasis in Friesian Horses

BACKGROUND: Distichiasis, an ocular disorder in which aberrant cilia (eyelashes) grow from the opening of the Meibomian glands of the eyelid, has been reported in Friesian horses. These misplaced cilia can cause discomfort, chronic keratitis, and corneal ulceration, potentially impacting vision due to corneal fibrosis, or, if secondary infection occurs, may lead to loss of the eye. Friesian horses represent the vast majority of reported cases of equine distichiasis, and as the breed is known to be affected with inherited monogenic disorders, this condition was hypothesized to be a simply inherited Mendelian trait. RESULTS: A genome wide association study (GWAS) was performed using the Axiom 670 k Equine Genotyping array (MNEc670k) utilizing 14 cases and 38 controls phenotyped for distichiasis. An additive single locus mixed linear model (EMMAX) approach identified a 1.83 Mb locus on ECA5 and a 1.34 Mb locus on ECA13 that reached genome-wide significance (pcorrected = 0.016 and 0.032, respectively). Only the locus on ECA13 withstood replication testing (p = 1.6 × 10− 5, cases: n = 5 and controls: n = 37). A 371 kb run of homozygosity (ROH) on ECA13 was found in 13 of the 14 cases, providing evidence for a recessive mode of inheritance. Haplotype analysis (hapQTL) narrowed the region of association on ECA13 to 163 kb. Whole-genome sequencing data from 3 cases and 2 controls identified a 16 kb deletion within the ECA13 associated haplotype (ECA13:g.178714_195130del). Functional annotation data supports a tissue-specific regulatory role of this locus. This deletion was associated with distichiasis, as 18 of the 19 cases were homozygous (p = 4.8 × 10− 13). Genotyping the deletion in 955 horses from 54 different breeds identified the deletion in only 11 non-Friesians, all of which were carriers, suggesting that this could be causal for this Friesian disorder. CONCLUSIONS: This study identified a 16 kb deletion on ECA13 in an intergenic region that was associated with distichiasis in Friesian horses. Further functional analysis in relevant tissues from cases and controls will help to clarify the precise role of this deletion in normal and abnormal eyelash development and investigate the hypothesis of incomplete penetrance

Temporal changes in clinical and radiographic variables in dogs with preclinical myxomatous mitral valve disease: The EPIC study

The Evaluation of pimobendan in dogs with cardiomegaly caused by preclinical myxomatous mitral valve disease (EPIC) study monitored dogs with myxomatous mitral valve disease (MMVD) as they developed congestive heart failure (CHF)

More than meets the horse’s eye: An insight into equine ophthalmology

The prevalence of ophthalmic abnormalities in horses is high, higher even than most people are aware of and this is why equine ophthalmology has increasingly become a focus of attention. Loss or impairment of vision of horses has negative consequences for performance, usability and welfare. This thesis comprises work that arose from research questions related to clinical (eye)problems encountered in daily equine practice and is divided in 3 parts. The first part is focused on unravelling of a genetic ophthalmic disease in the horse, namely distichiasis. In distichiasis, extra eyelashes grow from the tarsal glands on the eyelids. The treatment, long-term follow-up and the identification of the genomic regions associated with distichiasis have been described. Aspects of pharmacokinetics of corticosteroids, one of the most commonly used anti-inflammatories for the equine eye, have been addressed in the second part. The distribution into the different compartments of the equine eye of corticosteroid eye drops (dexamethasone and prednisolone) and oral corticosteroids (prednisolone) have been investigated. The third part focuses on anaesthesia, improving local anaesthetic techniques and adequate analgesia during and after (standing) surgical ophthalmic procedures in horses. This thesis sheds light on the genetic cause of an important ophthalmic disease like distichiasis in the horse, helps to improve evidence-based medical and surgical treatment, and provides a vision for further research and future perspectives for prevention and treatment of diseases of the equine eye

Ketamine infusion for pain management in a case of thoracic outlet syndrome.

This case report presents the successful use of ketamine infusion therapy as pain relief for a patient with bilateral neurogenic Thoracic Outlet Syndrome (TOS) combined with arterial TOS after bilateral first rib resection surgery. The patient did not respond well to medical management due to limited effects and severe side effects. However, surgical treatment resulted in temporary relief. After ketamine infusion, quality of life has improved considerably because of increased functional capacity and decreased pain sensation. However, the clinical signs of arterial TOS remained. Additional prospective and standardized studies are needed to confirm if ketamine infusion is a good option for pain management in refractory cases of TOS

Spontaneous tricuspid valve chordal rupture in a dog with severe, irreversible pulmonary hypertension caused by Angiostrongylus vasorum infection

BACKGROUND: The adult worms of Angiostrongylus vasorum reside in the pulmonary artery of dogs and can lead to cardiac, respiratory, and central neurologic signs. Due to luminal obstruction and perivascular inflammation of the pulmonary artery branches, pulmonary hypertension can arise. Pulmonary hypertension, in turn, can lead to severe damage of the right-sided cardiac structures, leading to right ventricular remodeling and tricuspid valve regurgitation. CASE PRESENTATION: An 8-year-old neutered female English Cocker Spaniel was presented to the author's institution because of abdominal distention and exercise intolerance. Ascites caused by congestive right-sided heart failure was found to be responsible for these problems. The underlying etiology of the right-sided heart failure was a severe pulmonary hypertension caused by Angiostrongylus vasorum infection. Echocardiography revealed, in addition to a severe concentric and eccentric right ventricular hypertrophy, right atrial and pulmonary trunk dilation, severe tricuspid valve regurgitation, and a systolic flail of the anterior leaflet of the tricuspid valve, resulting from ruptured chordae tendineae. As a coincidental finding, a congenital mitral stenosis was found. Oral therapy was initiated with daily administration of fenbendazole for 2 weeks along with daily administration of oral sildenafil until the re-check examination. At the 6-week re-check the dog showed full clinical and partial echocardiographic recovery, and both the blood antigen test for Angiostrongylus vasorum and the fecal Baermann larva isolation test were negative. When the sildenafil therapy was ceased after tapering the daily dosage, the owner reported recurrence of abdominal distension. Re-starting the sildenafil therapy resulted in resolution of this problem. The dog was reported to be clinically healthy with daily sildenafil administration 7 months after the initial presentation. CONCLUSIONS: The present case report describes a dog where angiostrongylosis led to congestive right-sided heart failure resulting from severe pulmonary hypertension. The secondary right ventricular eccentric hypertrophy together with suspected papillary muscular ischemia were the suspected cause of the ruptured major tricuspid chordae tendineae, which led to a severe tricuspid valve regurgitation. Despite eradication of the worms, the severe pulmonary hypertension persisted. Treatment with daily oral sildenafil, a pulmonary arterial vasodilator, was enough to keep the dog free of clinically apparent ascites

Congenital supravalvular aortic stenosis in a kitten

A 3-month-old, male intact Norwegian forest cat without any clinical signs was referred to the cardiology service of the author's teaching hospital for evaluation of a cardiac murmur. The murmur was systolic with an intensity of 4 out of 6 with the point of maximal intensity at the left heart base. Echocardiography revealed a moderate mitral valve regurgitation and a moderate dynamic left ventricular outflow tract obstruction both resulting from systolic anterior motion of the mitral valve (SAM). Moreover, left ventricular concentric hypertrophy was noted. Oral atenolol therapy was initiated. Recheck examination 3.5 months later revealed unchanged murmur characteristics in the still asymptomatic kitten. Echocardiography showed no SAM, but there was a severe fixed aortic stenosis apparent caused by a discrete supravalvular lesion, 4 mm distal to the valve, with an hourglass morphology. Supravalvular aortic stenosis is a rare congenital anomaly in cats, which has not been reported antemortem yet

Information Provided by Breeders and Referring Veterinarians about the Presence and Meaning of a Murmur to Owners of Newly Purchased Puppies with a Later Confirmed Congenital Heart Disease

Background: A recent study revealed that only 10% of puppies diagnosed with a congenital heart disease were referred for murmur investigation to a veterinary cardiology specialist while the puppies were in the breeders' possession. Whether the new owners had been informed about the presence of a murmur before purchasing a puppy was not investigated. Methods: New owners whose dogs were diagnosed with a congenital heart disease at the authors' institution in a 1-year period received a questionnaire during the consult after cardiac auscultation but before performing an echocardiogram. The main study aims were to reveal whether the breeders had informed the new owners about the presence of a murmur before purchasing the puppy, and whether the owners would have still chosen to buy that specific puppy if they had known about a potentially present congenital heart disease. Results: Of the 60 interviewed owners, 72% would have refrained from buying the puppy if they had known about the presence of a congenital heart disease. However, only 23% of them were informed about the presence of a cardiac murmur before purchase. Conclusions: Most owners would have chosen to buy a healthy puppy without a heart disease if they had been informed