Notes in Cardiac Genetics

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Status	Last Update	Fields
Published	01/10/2024	Most common genetic causes of CHD
Published	01/10/2024	Syndromic mutations for CHD
Published	01/10/2024	Non-syndromic mutations for CHD
Published	01/10/2024	What is a karyotype?
Published	01/10/2024	What are single gene panels? What are they used for?
Published	01/10/2024	What is chromosomal microarray used for and why?
Published	01/10/2024	What is Whole Exome Sequencng, and when is it used?
Published	01/10/2024	Physical Presentation of Trisomy 21
Published	01/10/2024	Cardiac complications of T21
Published	01/10/2024	Turner Syndrome (presentation)
Published	01/10/2024	Cardiac complications of Turner Syndrome
Published	01/10/2024	22q11.2 Deletion Syndrome and presentation
Published	01/10/2024	Cardiac complications of 22q11.2 Deletion Syndrome
Published	01/10/2024	Williams syndrome clinical presentation
Published	01/10/2024	Cardiac complications of Williams syndrome
Published	01/10/2024	What is Alagille syndrome and its presentation?
Published	01/10/2024	Cardiac complications from Alagille syndrome
Published	01/10/2024	Holt-Oram Syndrome and presentation
Published	01/10/2024	Cardiac complications from Holt-Oram Syndrome
Published	01/10/2024	What is CHARGE Syndrome and what cardiac complications does it present with?
Published	01/10/2024	Examples of Rasopathies
Published	01/10/2024	What are Rasopathies?
Published	01/10/2024	Noonan syndrome and its presentation
Published	01/10/2024	Cardiac complications from Noonan syndrome
Published	01/10/2024	Multiple Lentigines Syndrome (form of Noonan's)
Published	01/10/2024	Cardiac complications of Multiple Lentigines Syndrome
Published	01/10/2024	What are aortopathies?
Published	01/10/2024	What is Brugada syndrome?
Published	01/10/2024	What is Kearns-Sayre Syndrome
Published	01/10/2024	What is short QT syndrome?
Published	01/10/2024	What mutations lead to short QT syndrome?
Published	01/10/2024	Examples of multi-system syndromes associated with prolonged QT
Published	01/10/2024	What is Long QT Syndrome?
Published	01/10/2024	What is Vascular EDS?
Published	01/10/2024	Cardiac complications from EDS
Published	01/10/2024	What are the unique features of LDS?
Published	01/10/2024	What is Loeys-Dietz Syndrome?
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