Familial Valvular Heart Disease

Familial valvular heart diseaseValvular heart disease is any disease process involving one or more of the four valves of the heart (the aortic endomitral valves on the left and the pulmonary and tri-cuspid valves on the right). Collectively, the valves are part of the dense connective tissue makeup of the heart known as the cardiac skeleton. Valve problems may be congenital (inborn) or acquired (due to another cause later in life). Despite a dramatic decline in the incidence of rheumatic heart disease in industrialized countries, VHD remains highly prevalent and the disease encompasses heart valve defects (i.e. bicuspid aortic valve, myxomatous mitral valve prolapse) that are inherited from family members. The early signs of VHD usually do not begin to surface until adulthood and both men and women are equally susceptible to this disease.

Recent advances in our understanding of the genetic basis of familial VHD have been made through the unraveling of gene network and molecular mechanisms regulating normal valve development. Progress has arisen mostly from a series of studies focusing on animal models, the analysis of the disease in large families and it’s transmission from member to member using microRNA, in vitro, and transcriptomic assessment of diseased tissue. The complete article that details findings gathered from these studies can be found here.

Types of VHD

  • Aortic insufficiency / Regurgitation
  • Mitral Valve Stenosis
  • Aortic Valve Stenosis
  • Mitral Insufficiency / Regurgitation
  • Tricuspid Insufficiency / Regurgitation
  • Mitral Valve Prolapse
  • Rheumatic Fever
  • Endocarditis

Symptoms of VHD

  • Heart Failure (Mitral valve stenosis, Aortic stenosis, Aortic insufficiency, Mitral insufficiency)
  • Palpitations (Mitral valve stenosis, Aortic insufficiency)
  • Chest Pain (Mitral valve stenosis)
  • Hemoptysis (Mitral valve stenosis)
  • Synocope (Aortic stenosis)
  • Thromboembolism (Mitral valve stenosis)
  • Ascites (Mitral valve stenosis)
  • Edema (Mitral valve stenosis)
  • Angina Pectoris (Aortic stenosis, Aortic insufficiency)
  • Pulmonary Edema (Mitral insufficiency)
  • Right-sided heart failure (Tricuspid insufficiency)

Sources

http://en.wikipedia.org/wiki/Valvular_heart_disease

http://circgenetics.ahajournals.org/content/5/5/569.full