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Cardiac involvement in genetic disease 

Cardiac involvement in genetic disease
Cardiac involvement in genetic disease

Thomas A. Traill

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date: 07 March 2021

Many clinicians find themselves faced, from time to time, with a patient who has a family history of a known disorder, such as Marfan syndrome, or who has non-cardiac features that suggest a syndrome. The first part of this chapter deals with developmental syndromes that include congenital cardiac defects, with coverage restricted to a few relatively common disorders that are seen in adult patients. The second part describes the two common connective tissue disorders—Marfan and Ehlers–Danlos syndromes—and the more recently described Loeys–Dietz syndrome that shares some pathogenetic mechanisms with Marfan. Some other heritable diseases that affect the heart are listed in a table, without discussion in the text: though they are important to other organ systems, they offer little opportunity to the cardiologist for diagnosis or management.

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