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NEB Exam Q: Autosomal & sex chromosomal-inherited disorders | Embryology

Discussion in 'Medical Topics' started by Shazy, May 9, 2014 at 1:24 AM.

  1. Shazy

    Shazy Administrator Administrator Global Moderator Forum Moderator

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    A variety of autosomal and sex chromosomal-inherited disorders are associated with developmental cardiac and/or aortic defects or cardiac pathology. The major associations are as follows:

    1. Down syndrome: endocardial cushion defects (ostium primum ,ASD, regurgitant AV valves)
    2. DiGeorge syndrome: tetralogy of fallot and aortic arch anomalies
    3. Friedreich’s ataxia: hypertrophic cardiomyopathy
    4. Marfan syndrome: cystic medial necrosis of the aorta
    5. Tuberous sclerosis: valvular obstruction due to cardiac rhabdomyomas
    6. Turner’s syndrome: coarctation of the aorta.

    Very important in terms of MCQ's.
    Shazy, May 9, 2014 at 1:24 AM
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    drwatson likes this.

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