Genetics of feline hypertrophic cardiomyopathy

Cristina Gil-Ortuño1, Patricia Sebastián-Marcos2, María Sabater-Molina1,3

  • 1Cardiogenetic Laboratory, Inherited Cardiac Disease Unit, IMIB University Hospital Virgen de la Arrixaca-IMIB, Murcia, Spain.

Clinical Genetics
|March 28, 2020
PubMed

Insights

Hypertrophic cardiomyopathy (HCM) in cats shares similarities with the human condition. Cats serve as a valuable model for studying HCM genetics and developing new treatments due to shared disease characteristics.

Area of Science:

  • Cardiology
  • Genetics
  • Comparative Medicine

Background:

  • Hypertrophic cardiomyopathy (HCM) is a common inherited cardiovascular disease in humans and cats.
  • Feline HCM exhibits a similar phenotype to human HCM but progresses more rapidly.
  • Complications like heart failure and sudden cardiac death are shared between human and feline HCM.

Purpose of the Study:

  • To review and compare genetic studies of feline HCM with human HCM.
  • To evaluate the potential of cats as a model for human HCM research.
  • To discuss the implications of identified genetic variants in feline HCM.

Main Methods:

  • Literature review of genetic studies on feline and human hypertrophic cardiomyopathy.
  • Comparative analysis of phenotypic and genotypic similarities.
  • Examination of identified genetic variants in sarcomeric genes (MYBPC3, MYH7).

Main Results:

  • Limited genetic studies in cats have identified variants in MYBPC3 and MYH7, some shared with human disease.
  • The high prevalence of some variants in non-affected cats questions their pathogenicity.
  • Feline HCM phenotype and genotype closely resemble human HCM.

Conclusions:

  • Cats represent an excellent model for studying the pathophysiology of hypertrophic cardiomyopathy.
  • Further research into feline HCM genetics can inform human disease understanding and therapeutic development.
  • Comparative studies highlight the value of feline models for cardiovascular research.

Related Concept Videos

Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
289
Cardiomyopathy I: Introduction and Classification01:25

Cardiomyopathy I: Introduction and Classification

Cardiomyopathy, or CMP, is a group of diseases affecting the myocardial structure, impairing its ability to pump blood effectively. This condition can lead to arrhythmias, heart failure, or sudden cardiac death.Cardiomyopathies are classified into primary and secondary categories:Primary Cardiomyopathy refers to conditions involving only the heart muscle that are often idiopathic (of unknown cause) or genetic. They primarily affect the myocardium without the involvement of other systemic...
415
Cardiomyopathy II: Dilated Cardiomyopathy01:30

Cardiomyopathy II: Dilated Cardiomyopathy

Dilated cardiomyopathy, or DCM, is a progressive myocardial disorder characterized by ventricular chamber dilation and contractile dysfunction.EtiologyVarious factors can cause DCM, including hypertension and heavy alcohol intake, which contribute to the weakening and enlargement of the heart muscle. Viral infections, such as Coxsackievirus B, adenoviruses, and influenza, can lead to DCM by causing inflammation and damage to heart tissue. Certain chemotherapeutic agents, including daunorubicin,...
350
Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
29.5K
Cardiomyopathy V: Interprofessional Care01:29

Cardiomyopathy V: Interprofessional Care

Managing cardiomyopathy involves addressing underlying or precipitating causes, treating heart failure with medications, and implementing dietary changes and a balanced exercise and rest regimen.Lifestyle ModificationsCardiomyopathy patients should adopt a low-sodium diet to reduce fluid retention and manage heart failure. A personalized exercise and rest plan helps maintain physical fitness without overstraining the heart. Avoiding alcohol and tobacco is essential to prevent further damage to...
237
Heart Failure II: Pathophysiology01:29

Heart Failure II: Pathophysiology

Systolic Heart Failure and Compensatory MechanismsSystolic heart failure (also termed HFrEF, Heart Failure with Reduced Ejection Fraction) is the most prevalent type of heart filure. It results in a decreased volume of blood being pumped from the ventricle. The aortic arch and carotid sinuses have baroreceptors that detect reduced blood pressure, triggering the sympathetic nervous system (SNS) to release epinephrine and norepinephrine. Initially, this response aims to boost heart rate and...
597