LABOKLIN (UK)| Genetic Diseases | Cats| HCM (Hypertrophic Cardiomyopathy HCM3/HCR)

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HCM (Hypertrophic Cardiomyopathy HCM3/HCR) Test number: 8116 Gene: HCM Price: £ 48.00 (including VAT)

Breed

Ragdoll .

The Disease

Hypertrophic cardiomyopathy (HCM) is a clinically heterogeneous myocardial disease and is the most common cardiac disease identified in domestic cats. HCM is characterised by an increased left ventricular mass due to an increase in wall thickness of the heart, with papillary muscle hypertrophy and systolic anterior motion of the Mitral valves. Subsequently, hypertrophy of the left heart chamber results in cardiac weakness and ultimately in heart failure. Death by HCM can occur via three mechanisms: (i) sudden cardiac death with arrhythmia and ventricular fibrillation, (ii) heart failure with tachycardia, increased respiration, shortness of breath, pulmonary oedema and pleural effusion or (iii) thrombus formation. Thrombi can form either in the left atrium due to abnormal blood circulation or in the heart chamber itself due to severe hypertrophy and cardiac weakness. Atrial thrombi can brake free and reach the arterial blood circuit, thereby often causing blood congestion at the branching of pelvic and crural arteries with paralysis of the hind legs. Echocardiographic examination has so far been the only diagnostic tool for this disease. However, it can only identify affected cats with some years of age, when they already present first symptoms of HCM.

Description

By DNA testing the mutation can be shown directly. The testing is carried out by state of the art laboratory methods and therefore provides a very high accuracy. In general DNA tests can be done at any age. The test can be applied to Ragdoll cats. With this test we can diagnose the reported mutation, but by no means we can report on the presence/absence of the disease (especially in breeds where the correlation of HCM disease and the cited mutation is not proven). The results that are transmitted contain the information on presence/absence of the mutation in the MYBPC3 gene, in the sample of the cat examined. We want to point out that there is still a small possibility of other mutations causing HCM which are not identified so far.

Trait of Inheritance

HCM is inherited as a single autosomal dominant condition. Heterozygous animals can show clinical signs of disease and can not live normal lives. They are able to propagate mutations throughout the population. Generally, 50% of a HCM positive cats’ offspring will inherit HCM. Homozygously affected animals for HCM show more severe clinical symptoms and will pass the defect gene onto all of their offspring. Recently, a mutation in the MYBPC3 gene which is suggested to cause HCM in Ragdoll cats was found by Dr. Kathryn Meurs (Washington State University, USA). This mutation was found in most HCM affected Ragdolls but not in cats which were tested free by means of echocardiographic techniques. In our laboratory, we were also able to identify this mutation in european Ragdoll cats with HCM. In Ragdolls the mutation which is suggested to cause HCM is like in Maine coons in the MYBPC3- gene but in a different domain. The mutations in the two unrelated breeds presumably occurred independently.

Inheritance : AUTOSOMAL DOMINANT trait

Sire		Dam		Offspring

Clear (N/N)	x	Clear (N/N)	>	100% Clear (N/N)

clear (N/N)	x	affected (N/HCM)	>	50% Clear (N/N) + 50% affected (N/HCM)

clear (N/N)	x	affected (HCM/HCM)	>	100% affected (N/HCM)

affected (N/HCM)	x	Clear (N/N)	>	50% Clear (N/N) + 50% affected (N/HCM)

affected (N/HCM)	x	affected (N/HCM)	>	25% clear (N/N) + 25% affected (HCM/HCM) + 50% affected (N/HCM)

affected (N/HCM)	x	affected (HCM/HCM)	>	50% affected (N/HCM)+ 50% affected (HCM/HCM)

affected (HCM/HCM)	x	Clear (N/N)	>	100% affected (N/HCM)

affected HCM/HCM	x	affected (N/HCM)	>	50% affected (N/HCM)+ 50% affected (HCM/HCM)

affected (HCM/HCM)	x	affected (HCM/HCM)	>	100% affected (HCM/HCM)

Clear

Genotype: N / N [ Homozygous normal ]

The cat is noncarrier of the mutant gene.
The cat will never develop HCM (Hypertrophic Cardiomyopathy HCM3/HCR) and therefore it can be used in breeding.

Affected
Affected cats can have one of two genotypes:
Genotype: N / HCM [ Heterozygous affected]

Due to the dominant nature of this condition heterozygous cats are likely to develop HCM (Hypertrophic Cardiomyopathy HCM3/HCR) and show its symptoms.

Genotype: HCM / HCM [ Homozygous affected ]

Homozygously affected cats are at very high risk of developing HCM (Hypertrophic Cardiomyopathy HCM3/HCR) and showing its symptoms more severly than heterozygously affected cats.

It is not recommended to use affected cats in breeding
The cat will pass the mutant gene to its offspring

Sample Requirements

Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.

Turnaround

1-2 weeks

Price

£ 48.00 (including VAT)

To order:

Download Order Form from this link
Complete the order form and send it together with your samples to the following address:
Laboklin (UK), Unit 20, Wheel Forge Way, Trafford Park, Manchester, M17 1EH
Buccal swabs and EDTA tubes are available from us free of charge, to order, please use the online form <Request sample collection materials> or email: info@laboklin.co.uk.
If you are sending swab samples, please follow the instructions on this link .

If you have any queries, please contact us on 0161 282 3066

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