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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

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Hypertrophic cardiomyopathy

Juan José Santos Mateo1, María Sabater Molina2, Juan Ramón Gimeno Blanes3

  • 1Unidad de Cardiopatías Familiares, Servicio de Cardiología, Hospital Clínico Universitario Virgen de la Arrixaca, El Palmar, Murcia, España.

Medicina Clinica
|November 19, 2017
PubMed

Insights

Hypertrophic cardiomyopathy, an inherited heart disease, involves thickened ventricular walls and diverse symptoms. This review covers its diagnosis and treatment, focusing on genetic causes and potential complications.

Area of Science:

  • Cardiology
  • Genetics
  • Internal Medicine

Background:

  • Hypertrophic cardiomyopathy (HCM) is the most prevalent inherited cardiovascular disease.
  • It presents with heterogeneous clinical features, multiple phenotypes, numerous causal mutations, and a wide range of complications.
  • HCM is primarily caused by mutations in sarcomeric proteins, identified in up to 60% of patients.

Purpose of the Study:

  • To provide a comprehensive overview of the diagnostic and therapeutic strategies for hypertrophic cardiomyopathy.
  • To highlight the complexity and varied clinical manifestations of this genetic heart condition.
  • To discuss the underlying genetic basis and associated risks of HCM.

Main Methods:

  • Review of current literature on hypertrophic cardiomyopathy.
  • Synthesis of information regarding clinical presentation, diagnosis, and management.
  • Discussion of genetic factors and complications.

Main Results:

  • HCM is characterized by increased ventricular wall thickness.
  • Clinical manifestations include shortness of breath, chest pain, palpitations, syncope, diastolic dysfunction, outflow tract obstruction, ischemia, atrial fibrillation, and abnormal vascular responses.
  • Associated risks include sudden cardiac death, heart failure, and thromboembolic events.

Conclusions:

  • Hypertrophic cardiomyopathy is a complex inherited disease with significant clinical implications.
  • Effective diagnosis and management are crucial due to the broad spectrum of complications and risks.
  • Understanding the genetic basis is key to addressing this cardiovascular condition.

Keywords:
Diagnóstico genéticoGenetic diagnosisHypertrophic cardiomyopathyMiocardiopatía hipertróficaMuerte súbita cardiacaMutaciones sarcoméricasSarcomeric mutationsSudden cardiac deathTherapyTratamiento

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