La cardiomyopathie hypertrophique

La cardiomyopathie hypertrophique est une maladie cardiaque qui affecte le muscle cardiaque, appelé
myocarde. Elle se caractérise par un épaississement plus ou moins important de ce dernier,localisé
principalement au niveau du ventricule gauche et en particulier du septum interventriculaire
(l’hypertrophie des piliers, des colonnes charnues, de la paroi libre du ventricule gauche peut exister à
un degré variable).

Ce n’est pas une maladie spécifique à la race du Maine Coon. Elle affecte de nombreuses espèces animales
(de race ou pas), ainsi que l’homme.

Cet épaississement du myocarde entraine progressivement une altération du fonctionnement cardiaque :

– avec apparition de troubles du rythme (fibrillations, extrasystoles, bloc de branche …), de souffles à
l’auscultation, de dyspnée d’effort etc …
– avec apparition de complications à type d’oedème pulmonaire, d’insuffisance cardiaque, de
thromboses artérielles et de mort subite.

Cette pathologie évolue souvent à bas bruit, avec des symptômes peu visibles à l’oeil nu avant
l’installation des premières complications.

Mode de transmission :

La HCM est une maladie génétique dont le  mode de transmission d’une génération à l’autre n’est pas
encore clairement défini.
Elle est la conséquence de la survenue d’anomalies (mutations) sur les chromosomes responsables de la
fabrication des différentes protéïnes constituant le muscle cardiaque. Chez le Maine Coon, une mutation
sur le gène MYBPC3 codant pour la protéïne C cardiaque de liaison à la myosne (une des protéïnes
composant le myocarde) a été identifiée.
La transmission du gène muté est de type autosomale dominante, d’expression variable et à pénétrance
complète à l’âge adulte.

– autosomale = mutation portée sur un chromosome autosome par opposition aux chromosome
sexuels. La transmission est donc indépendante du sexe des parents et peut-être transmise aussi bien par
les mâles que par les femelles.

– dominante = un seul parent porteur du gène malade suffit pour le transmettre  à une partie de sa
descendance.

– d’expression variable = signifie que l’âge d’apparition et d’évolution de la maladie sont variables d’un
individu à l’autre, y compris au sein d’une même lignée. Certains animaux seront gravement atteints et
rapidement (avant l’âge d’1 an), d’autres seront plus discrètement touchés  et plus ou moins tardivement,
enfin certains ne sembleront pas affectés. Tous transmettront le gène muté et donc le risque d’exprimer
la maladie.

– à pénétrance complète à l’âge adulte = signifie que tous les individus porteurs du gène muté
développeront vraisemblablement une HCM à un moment de leur vie, une fois dans l’âge adulte, malgré
la variabilité d’expression de la maladie.

L’identification de cette mutation sur le gène MYBPC3 a conduit au développement d’un test ADN par les
laboratoires. La cardiomyopathie hypertrophique déclenchée par cette mutation a été étiquetée de TYPE
1 (HCM 1).

Dans le cas d’un résultat négatif au test ADN, c’est à dire homozygote sain pour la HCM 1, il n’est pas exclu
qu’aucune autre mutation, non étiquetée actuellement, ne conduise au développement d’une HCM
(chez l’Homme, plus de 220 mutations connues sur plusieurs gènes mènent aux symptômes cliniques
d’une HCM, de pronostics variables).

Suivi et dépistage :

Il est donc nécessaire, en l’état actuel des connaissances, de poursuivre le dépistage par échographie
cardiaque de nos Maine coons, puisque le seul test ADN ne suffit pas à écarter le risque de
développement d’une HCM chez nos chats.
Cet examen, réalisé par un spécialiste en cardiologie et en échographie, permet le diagnostic de HCM, à un
temps donné, par la visualisation des modifications anatomiques et physiologiques du coeur.
Il s’agit donc d’un outil de détection de la maladie. Il ne garantit pas que le myocarde sera sain dans les
mois et années à venir. D’où le terrible sentiment d’épée de Damoclès suspendue au-dessus de la tête
pour tous les éleveurs testant échographiquement leurs reproducteurs, dans l’attente de chaque résultat.
Cet examen avertit donc de l’installation d’une HCM, mais ne permet pas d’en prévenir l’apparition ni
d’en déterminer les causes.

En élevage, le suivi échographique régulier des reproducteurs (et idéalement des chats mis à la retraite),
chaque année et avant chaque saillie, m’apparaît comme indispensable, pour continuer à étudier les
statuts des lignées avec lesquelles nous travaillons et permettre aux chats détectés HCM posistif à
l’échographie d’être pris en charge médicalement afin de leur permettre de vivre le plus
confortablement possible avec leur maladie et de rendre également possible la poursuite des recherches
sur cette maladie.
Des recommandations et des protocoles de suivi pour la HCM ont été proposés, entre autre par Pawpeds

Quelques éleveurs demandent également un suivi échographique, « adapté », de leurs chatons placés en
compagnie. Ceci afin d’avoir un retour sur l’évolution, au niveau santé cardiaque, de ces chatons non
destinés à la reproduction. Ce qui permet à l’éleveur d’élargir son suivi sur ses lignées, sur les différents
mariages effectués et d’avoir ainsi un certain recul sur le travail accompli.

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