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Cardiac Involvement in Marfan Syndrome

Cardiovascular manifestations of a connective tissue disorder caused by FBN1 gene mutations.

Written by: Saygı Hospital Health Guide Editorial Board
Published:

This content is for general information; please consult your physician for diagnosis and treatment.

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Kardiyoloji department. Book Appointment →

What is Cardiac Involvement in Marfan Syndrome?

Marfan syndrome is an autosomal dominant connective tissue disorder caused by mutations in the FBN1 gene that impair fibrillin-1. Cardiovascular involvement is the main cause of morbidity and mortality.

Key cardiac features are progressive aortic root dilation, aortic regurgitation, mitral valve prolapse and mitral regurgitation. Aortic dissection and rupture are life-threatening complications.

Diagnosis is based on the Ghent criteria, combining clinical and genetic findings. Management is multidisciplinary, involving cardiology, genetics, ophthalmology and orthopedics.

Symptoms

Tall, slim build with arachnodactyly
Pectus excavatum/carinatum
Scoliosis
Sudden pain from aortic dissection
Dyspnea from aortic regurgitation
Mitral valve prolapse murmur
Ectopia lentis (lens subluxation)

Risk Factors

Family history
FBN1 mutation
Increasing aortic diameter with age
Hypertension
Heavy physical exertion
Pregnancy
Previous aortic dissection

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • New chest or back pain
  • Dyspnea and syncope
  • Aortic root exceeding threshold diameter
  • Pre-pregnancy counseling
  • Screening of first-degree relatives

Treatment Methods

01
Blood pressure control with beta-blocker or ARB
02
Annual echocardiography with MR/CT follow-up
03
Avoidance of heavy isometric exercise
04
Elective surgical repair when the aortic root reaches threshold
05
Cardiology-guided follow-up during pregnancy
06
Genetic counseling

Which Department to Visit?

You can visit our Kardiyoloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Let us help you

You can make an appointment with our specialists or contact us for your concerns.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.