The Genetic Basis of Hypertrophic Cardiomyopathy in Cats and Humans

Overview

Journal J Vet Cardiol

Publisher Elsevier

Specialties Cardiology & Vascular Diseases
Veterinary Medicine

Date 2016 Jan 19

PMID 26776594

Citations 28

Authors

Mark D Kittleson

Kathryn M Meurs

Samantha P Harris

Affiliations

Soon will be listed here.

Abstract

Mutations in genes that encode for muscle sarcomeric proteins have been identified in humans and two breeds of domestic cats with hypertrophic cardiomyopathy (HCM). This article reviews the history, genetics, and pathogenesis of HCM in the two species in order to give veterinarians a perspective on the genetics of HCM. Hypertrophic cardiomyopathy in people is a genetic disease that has been called a disease of the sarcomere because the preponderance of mutations identified that cause HCM are in genes that encode for sarcomeric proteins (Maron and Maron, 2013). Sarcomeres are the basic contractile units of muscle and thus sarcomeric proteins are responsible for the strength, speed, and extent of muscle contraction. In people with HCM, the two most common genes affected by HCM mutations are the myosin heavy chain gene (MYH7), the gene that encodes for the motor protein β-myosin heavy chain (the sarcomeric protein that splits ATP to generate force), and the cardiac myosin binding protein-C gene (MYBPC3), a gene that encodes for the closely related structural and regulatory protein, cardiac myosin binding protein-C (cMyBP-C). To date, the two mutations linked to HCM in domestic cats (one each in Maine Coon and Ragdoll breeds) also occur in MYBPC3 (Meurs et al., 2005, 2007). This is a review of the genetics of HCM in both humans and domestic cats that focuses on the aspects of human genetics that are germane to veterinarians and on all aspects of feline HCM genetics.

Citing Articles

The Pathological and Histopathological Findings in Cats with Clinically Recognised Hypertrophic Cardiomyopathy Are Related to the Severity of Clinical Signs and Disease Duration.

Janus-Ziolkowska I, Bubak J, Ciaputa R, Kandefer-Gola M, Noszczyk-Nowak A Animals (Basel). 2025; 15(5).

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MicroRNA profiling of the feline left heart identifies chamber-specific expression signatures in health and in advanced hypertrophic cardiomyopathy.

Joshua J, Caswell J, Monne Rodriguez J, Kipar A, OSullivan M, Wood G J Mol Cell Cardiol Plus. 2025; 4():100037.

PMID: 39801693 PMC: 11708362. DOI: 10.1016/j.jmccpl.2023.100037.

Genetic Basis of Hypertrophic Cardiomyopathy in Cats.

Grzeczka A, Graczyk S, Paslawski R, Paslawska U Curr Issues Mol Biol. 2024; 46(8):8752-8766.

PMID: 39194734 PMC: 11352635. DOI: 10.3390/cimb46080517.

Feline hypertrophic cardiomyopathy: Does the microRNA-mRNA regulatory network contribute to heart sarcomeric protein remodelling?.

Guelfi G, Venanzi N, Capaccia C, Stefanetti V, Brachelente C, Sforna M Int J Exp Pathol. 2024; 105(5):170-183.

PMID: 39138588 PMC: 11574647. DOI: 10.1111/iep.12514.

Missense mutations in the central domains of cardiac myosin binding protein-C and their potential contribution to hypertrophic cardiomyopathy.

Pearce A, Ponnam S, Holt M, Randall T, Beckingham R, Kho A J Biol Chem. 2023; 300(1):105511.

PMID: 38042491 PMC: 10772716. DOI: 10.1016/j.jbc.2023.105511.

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