Participant 123

Participant 123

She was referred by her cardiologist because of her tall stature and some finger deformity. She had eye surgery in childhood and was seen by a cardiologist for cardiomegaly and heart failure grade II.

Date of Report

Description

She was referred by her cardiologist because of her tall stature and some finger deformity. She had eye surgery in childhood and was seen by a cardiologist for cardiomegaly and heart failure grade II. She has recently started complaining of dyspnea. No other similar  case reported in the family.


Symptoms / Signs

  • On physical exam she is tall, with thin and long arms, legs, fingers and toes, joint hyperflexibility, positive wrist and thumb signs, scoliosis, moderate pectus excavatum and arachnodactyly.
  • Chest radiograph showed an enlarged heart.
  • Spine X-ray showed scoliosis and heart echography showed grade II heart failure.

Current Treatments

  • Beta-blocker

Prior Treatments

  • Unknown

Considered treatments

  • None

Previously Considered Diagnoses

  • Marfan syndrome

Genetic Variants of Interest

  • FBN1 Gene

Siblings, age & gender


Contact

If this participant sounds like you or someone you know, please contact Wilhelm Foundation at info@wilhelmfoundation.org


Bio

A is a 21 year old woman from a big family. She likes music, reading books, and traditional fashion clothing.


More pictures 

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