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Associations of autosomal and sex chromosomal-inherited disorders

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.