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Cardiovascular Manifestation of a Family with Marfan's Syndrome

Mohammad Hossein Davari1, Toba Kazemi, Hossein Alimirzaei

  • 1Birjand Cardiovascular Research Center, Birjand University of Medical Sciences, Birjand, Iran.

The Journal of Tehran Heart Center
|October 18, 2012
PubMed

Insights

Marfan syndrome (MFS), a genetic disorder, often leads to fatal cardiovascular issues. This study highlights a family with severe MFS, where early intervention prevented aortic dissection in high-risk patients.

Area of Science:

  • Genetics
  • Cardiology
  • Medical Genetics

Background:

  • Marfan syndrome (MFS) is an autosomal dominant genetic disorder.
  • Cardiovascular complications are the leading cause of mortality in MFS patients.
  • Understanding MFS inheritance patterns and clinical manifestations is crucial for patient management.

Observation:

  • A family with a severe presentation of Marfan syndrome (MFS) was studied.
  • Eleven family members across three generations were diagnosed with MFS.
  • The most frequent cardiac manifestation observed was mitral valve prolapse with mitral regurgitation.

Findings:

  • Two patients exhibited aortic root dilatation, posing a risk for aortic dissection.
  • These high-risk patients underwent successful cardiac surgery, including the Bentall procedure.
  • A ten-year follow-up confirmed the survival of all affected family members.

Implications:

  • Early detection and surgical intervention can effectively manage severe cardiovascular risks in MFS.
  • This case underscores the importance of genetic counseling and proactive cardiac monitoring in affected families.
  • The successful surgical outcomes demonstrate the efficacy of current treatment strategies for MFS-related aortic complications.
Keywords:
Cardiac manifestationConnective tissue diseasesFamilyMarfan syndrome

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