Genetics and Cardiovascular Disease Flashcards
1
Q
State some causes of congenital heart diseases
A
- Chromosomal (trisomy/monosomies)
- Microdeletions (22q11 deletion, Williams)
- Single gene mutations (Noonan, Marfan)
- Teratogens (rubella, maternal diabetes mellitus)
2
Q
Down syndrome = trisomy _
A
21
3
Q
State the most common cause of down syndrome
A
MATERNAL non-disjuction
4
Q
Features of turner syndrome:
A
45,X
Occurs only in females
Characteristics include: Short stature, coarctation of the aorta, puffy hands and gonadal dysgensis
5
Q
Features of Noonan syndrome:
A
- PULMONARY STENOSIS
- Cryptorchidism
- Short stature
- Neck webbing
- Autosomal dominant
- PTPN11 mutation
6
Q
Features of 22q11 deletion syndrome:
A
REMEMBER CATCH 22:
Cardiac malformation/defects/anomalies Abnormal facies Thymic hypoplasia (underdeveloped thymus) Cleft palate Hypoparathyroidism 22q11 deletion
(Also renal problems and psychiatric conditions)
7
Q
Williams syndrome:
A
- Aortic stenosis
- Hypercalcemia
- Characterisitc face
- 5th finger chinodactyly
- Deletion of elastin on chromosome 7
8
Q
Teratogens:
A
“An agent or factor which causes malformations in the embryo”
- Maternal diabetes mellitus
- Antiepileptic drugs
- Rubella
- Fetal alcohol syndrome
9
Q
Marfan’s syndrome features:
A
- Connective tissue disorder
- Autosomal dominant
- Multisystem
- Fibrillin 1 gene
- 15q21 chromosome
- TGFβR 2 (and TGFβR 1)
- Chromosome 3p22 (9q33)
- Tall stature
10
Q
Down syndrome features:
A
- Trisomy 21 (mostly due to maternal non-disjunctions)
- Atrio-ventricular septal defect
- Duodenal atresia
Do a nuchal translucency scan
