Notes in 03 Cardiac Genetics

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Published	10/24/2023	{{c1::Congenital heart disease is}} 1+ structural or functional abnormalities of the heart or great vessels that is present at birth, arising from alt…
Published	10/24/2023	{{c1::20}}% of those with congenital heart disease have a known genetic or environmental etiology, and the remainder have presumed {{c2::multiple gene…
Published	10/24/2023	The most common genetic etiology of congenital heart disease is {{c1::Trisomy 21}}, {{c1::22q11 microdeltion}}, or {{c1::Noonan syndrome}}
Published	10/24/2023	A genetic etiology for congenital heart disease can be {{c1::de novo (usually autosomal dominant)}} or {{c1::inherited}}
Published	10/24/2023	{{c1::Variable expressivity}} of CHD: not all with genetic diagnosis will manifest with the associated congenital heart disease to the same degree
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Published	10/24/2023	Makeing a genetic diagnosis with CHD is important because it can guide {{c1::medical/surgical}} decision making, help families understand {{c1::progno…
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Published	10/24/2023	Many autosomal dominant diseases have {{c1::reduced}} penetrance
Published	10/24/2023	{{c2::Karyotypes::test}} look at the chromosomal number and structural changesUse: {{c1::suspected aneuploidy, large translocations, mosaicism}}
Published	10/24/2023	{{c1::Single gene panels}} are used to sequence a selected range of genes based on clinical concern
Published	10/24/2023	{{c1::Whole exome sequencing}} is used with assessing multiple single-gene disorders simultaneously when the phenotype is complex
Published	10/24/2023	{{c1::Chromosomal microarray}} is the starting test for most CHD, intellectual disabilities, multiple congenital anomalies, or when microdeletion/dupl…
Published	10/24/2023	Trisomy 21:Presentation: hypotonia, flat faces, small ears slanted palpebral fissues, {{c1::protruding tongue}}Prevalence: {{c1::1/800}} (most common …
Published	10/24/2023	Most common cardiac defects for those with trisomy 21{{c1::Endocardial cushion defect (aka AVSD)}} > {{c1::VSD}} > {{c1::PDA}} > {{c1::ASD}} …
Published	10/24/2023	{{c1::Turner syndrome}}: loss of part or all of the X chromosome with possible mosaicismPresentation: {{c1::female, short stature, HTN, dyslipidemia, …
Published	10/24/2023	{{c3::22q11.2 deletion syndrome}}: > 40 genes are deletedCHD: {{c1::conotruncal defects (ToF, truncus arteriosus, VSD), aortic arch malformations (…
Published	10/24/2023	{{c1::Williams syndrome}}: caused by large genomic deletions on chromosome 7q11 which includes the elastin (ELN) genePresentation: {{c3::prominent lip…
Published	10/24/2023	{{c1::Alagille syndrome}}: point mutation in JAG1 or NOTCH2CHD: {{c2::aterial narrowing, ToF, transposition of the great arteries, pulmonary sten…
Published	10/24/2023	{{c1::Holt Oram syndrome}}: autosomal dominant, heterozygous mutation in TBX5 (regulates limb and cardiac development)Prevalence: 1/100,000CHD: {{c2::…
Published	10/24/2023	{{c1::CHARGE syndrome}}: Coloboma, Heart disease, Atresia choroanae, Retarded growth and development, Genital anomalies, Ear anomalies; caused by a mu…
Published	10/24/2023	{{c2::Rasopathies}}: syndromes with similar constellation of cardiac, growth, facial, and neurodevelopmental findingsCause: different genes along the …
Published	10/24/2023	{{c1::Noonan syndrome}}: Mutation in PTPN11, RAF1, SOS1, or KRASPresentation: {{c2::short stature, broad or webbed neck, unusual chest shape, developm…
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Published	10/24/2023	Loeys Dietz Syndrome and Marfan both have {{c1::scoliosis}}, {{c1::aortic root dilation}}, {{c1::chest wall deformities}}, {{c1::medial deviation of t…
Published	10/24/2023	Unique features of {{c2::Loeys Dietz Syndrome}} include {{c1::bifid uvula}} and {{c1::arterial toruosity}} with NO {{c1::disclocated lenses}}
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