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100 Syndromes to know!! > Cardiovascular > Flashcards

Cardiovascular Flashcards

1
Q
  • Responsible gene indicathed in 22q11.2 deletion syndrome
A
  • TBX1
  • related to dosage defect
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2
Q

Major electrolyte abnormality in 22q11.2 deletion syndrome

A
  • Hypocalcemia
  • Check PTH
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3
Q

Major heart defects found in 22q11.2 deletion syndrome

A
  • TOF
  • IAA type B
  • Conotruncal defects
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4
Q

Which arteries should be assessed prior to pharyngeal SX in individuals with 22q11.2 deletion syndrome

A
  • Internal carotid arteries
  • because of medial deviation
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5
Q

Size deletion most common in 22q11.2 deletion syndrome

A
  • 3Mb deletion
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6
Q

Some individuals with signs and symptoms of 22q11.2 deletion without deletion of the DSCR may harbour this deletion

A
  • 10p13-p14 deletion
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7
Q

Name the features unique to this syndrome

A
  • Alagille Syndrome
  • JAG1 and NOTCH2
  • Prominant forehead
  • pointed chin
  • deep set eyes
  • saddle or straight nose with bulbous tip
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8
Q

Liver finding associated with Allagile syndrome

A
  • Paucity of bile ducts
  • leads to cholestasis
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9
Q

Common eye finding found in condition caused by JAG1 and NOTCH2 mutations

A
  • Alagille Syndrome
  • Posterior embryotoxon
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10
Q
  • ST segment abnormalities in leads V1-V3
  • Family history of sudden death
  • sudden death at 40
    *
A
  • Brugada Syndrome
  • SCN5A
  • AD
  • except KCNE5 XLR
  • cause of SIDS
  • high risk for ventricular arrhythmias and sudden death
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11
Q
  • Facial features associated with this syndrome
A
  • Cardio-Facial-Cutaneous Syndrome
  • High forehead, bitemporal narrowing
  • posterior rotated ears with thick helices
  • hypertelorism and down slanting eyes
  • cupid bow lips
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12
Q
  • Skin findings of Cardio-Facial-Cutaneous Syndrome
A
  • BRAF, MAP2K1, MAP2K2, KRAS
  • Xerosis
  • Hyperkeratosis
  • icthyosis
  • eczema
  • ulerythema ophyrogenes
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13
Q

Neoplasm most likly associated with cardiofacialcutaneous syndrome

A
  • ALL
  • Acute lymphoblastic leukemia
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14
Q

Typical features of this syndrome?

A
  • Costello
  • Course facial features (full lips, large mouth, full nasal tip)
  • curly/sparse fine hair
  • smooth skin
  • deep palmer/planter creases
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15
Q

Precentage lifetime cancer risk associated with costello syndrome and common cancer types?

A
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16
Q

What skin condition might a child with a HRAS mutation be refered to a dermatologist?

A
  • Costello
  • Papillomata
  • Papillomata usually appear in the perinasal region and less commonly in the perianal region, torso, and extremities. While they are mostly of cosmetic concern, papillomata may give rise to irritation or inflammation in hard-to-clean body regions and may be removed, as appropriate.

Recurrent facial papillomata have been successfully managed with regular dry ice removal.

17
Q

Gene mutation that can be found in individuals with juvinille polyposis and this condition.

A
  • Hereditary hemorrhagic telangiectasia
  • SMAD4
18
Q

Viceral organs affected by condition cause by ACVRL1 and ENG

A
  • Hereditary Hemorrhagic Telangectasia
  • Most common presenting symptom is nosebleeds starting at the age of 12
  • Can have AV malformations
  • Pulmonary
  • Liver
  • Cerebral
  • Spinal
  • GI
19
Q

Abnormality found in 100% of patients with this condition

A
  • Holt-Oram Syndrome
  • TBX5
  • ALL individuals affected have abnormalities of the carpel bones
  • 75% have a congenital heart malformation (ASD or VSD)
  • Many have cardiac arrhythmias (w or wo CHD)
20
Q

What are the differences in the PTPN11 mutation in Noonan syndrome vs. the syndrome seen in the picture

A
  • Noonan syndrome with multiple Lentigines
  • PTPN11 mutations in this condition is loss of function, while in Noonan it is a gain of funtion
  • This condition is formally known at LEOPARD syndrome
    • Lentigines
    • EKG abnormalities
    • Ocular hypertelorism
    • Pulmonary stenosis
    • Abnormalities of the genetital tract
    • Retared growth
    • Deafness
21
Q

Genes associated with Noonan Syndrome:

  • PTPN11
  • SOS1/SOS2
  • RAF1
  • RIT1
  • SHOC2
  • KRAS
  • NRAS
  • CBL

Which is most likely associated with Pulmonary stenosis

22
Q

Genes associated with Noonan Syndrome:

  • PTPN11
  • SOS1/SOS2
  • RAF1
  • RIT1
  • SHOC2
  • KRAS
  • NRAS
  • CBL

Which is most likely associated with Hypertrophic Cardiomyopathy

A
  • RAF1 and RIT1
23
Q

Genes associated with Noonan Syndrome:

  • PTPN11
  • SOS1/SOS2
  • RAF1
  • RIT1
  • SHOC2
  • KRAS
  • NRAS
  • CBL

Which is most likely associated with Short Stature and GH deficiency

24
Q

Genes associated with Noonan Syndrome:

  • PTPN11
  • SOS1/SOS2
  • RAF1
  • RIT1
  • SHOC2
  • KRAS
  • NRAS
  • CBL

Which is most likely associated with Delayed Brain Myelination and cerebellar vermis hypoplasia

25
Genes associated with Noonan Syndrome: * *PTPN11* * *SOS1/SOS2* * *RAF1* * *RIT1* * *SHOC2* * *KRAS* * *NRAS* * *CBL* Which is most likely associated with **_Noonan syndrome like disorder with or without JMML_**
* *CBL* * *Noonan syndrome-like disorder with or without JMML (OMIM 613563). Germline pathogenic variants in CBL cause a variable phenotype characterized by a relatively high frequency of neurologic features, predisposition to **_juvenile myelomonocytic leukemia,_** and low prevalence of cardiac defects, reduced growth, and cryptorchidism [Martinelli et al 2010, Niemeyer et al 2010, Martinelli et al 2015].*
26
Genes associated with Noonan Syndrome: * *PTPN11* * *SOS1/SOS2* * *RAF1* * *RIT1* * *SHOC2* * *KRAS* * *NRAS* * *CBL* Which is most likely associated with **_being CFC-like_**
* *SOS1/SOS2* * *KRAS*
27
Genes associated with Noonan Syndrome: * *PTPN11* * *SOS1/SOS2* * *RAF1* * *RIT1* * *SHOC2* * *KRAS* * *NRAS* * *CBL* Which is most likely associated with **_More likley to receive normal education_**
* *PTPN11 (p.N308D)* * *The presence or absence of a pathogenic variant in PTPN11 does not affect the likelihood of developmental delay, although individuals with the p.Asn308Asppathogenic variant are said to be more likely to receive normal education [Jongmans et al 2004].*
28
Genes associated with Noonan Syndrome: * *PTPN11* * *SOS1/SOS2* * *RAF1* * *RIT1* * *SHOC2* * *KRAS* * *NRAS* * *CBL* Which is most likely associated with **_increased pigmentation, icthyosis, eczema, sparse fragile thin hair_**
SHOC2
29
Typical features of the condition shown in the picture below
* **Noonan Syndrome** * Key features found irrespective of age include low-set, posteriorly rotated ears with fleshy helices; vivid blue or blue-green irises; and eyes that are often wide-spaced, downslanted, and with epicanthal folds and fullness or droopiness of the upper eyelids (ptosis). * Broad or webbed neck Unusual chest shape with superior pectus carinatum, inferior pectus excavatum Widely set nipples
30
Gene located in Williams-Beuren syndrome critical region(WBSCR) that lead to the various cardiovascular and connective tissue defects seen in this condition.
* **Williams syndrome** * *ELN gene (elastin)* * 7q11.23
31
Endocrine abnormalities associated with william syndrome
* Endocrine abnormalities. Findings include idiopathic hypercalcemia, hypercalciuria, hypothyroidism, subclinical hypothyroidism, and early puberty. An increased frequency of abnormal oral glucose tolerance tests, obesity, and diabetes mellitus is observed, especially in adults.
32
Common features seen in the syndrome shown in the picture
**William syndrome** **7q11.23 contiguous deletion** * A broad forehead, bitemporal narrowing, **periorbital fullness,** strabismus, short nose, broad nasal tip, malar flattening, long philtrum, thick vermilion of the upper and lower lips, wide mouth, malocclusion, small jaw, and large earlobes are observed at all ages and in all ethnic groups.
33
Cardiovascular finding in individuals with the following finding on examination.
* **stellate iris pattern** in an individual with Williams syndrome. * **Cardiovascular disease (elastin arteriopathy**). Any artery may be narrowed. **Supravalvar aortic stenosis (SVAS)** is the most clinically significant and most common cardiovascular finding, occurring in 75% of affected individuals. _Peripheral pulmonic stenosis (PPS) is common in infancy._

100 Syndromes to know!! (10 decks)

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