Cardio

Question 1

22q11 del syndrome

Answer 1

Malar hypoplasia, tubular nose, full eyelids, cleft palate, overfolded ear helix
cardio: interrupted aortic arch, right aortic arch
hypocalcemia
ID, LD, immunodeficiency

Question 2

Alagille syndrome:

Answer 2

AD, JAG1 (95%), NOTCH2
Bile duct paucity, cardiac defects (pulm. stenosis), butterfly vertebrae, posterior embyrotoxon, cholestasis
DD, growth failure seen too
Dysmorphic features: prominent forehead, deep eyes, pointed chin
tx: liver transplant

Question 3

Brugada Syndrome:

Answer 3

AD, SCN5A (30%), 42 other genes
ST segment anomalies> syncope, ventricular tachyarrhythmia, and sudden cardiac death
Adult onset
Diagnosis: EKG very important
tx: defibrillators, avoiding certain drugs (B-adrenergic antagonists, TCA’s, 1st gen antihistamines, cocaine)

Question 4

Cardio-facio-cutaneous syndrome:

Answer 4

AD, BRAF (75%), MAP2K1/2 (25%), KRAS
Cardio: pulmonic stenosis, septal defects, hypertrophic cardiomyopathy
Facial features: Macrocephaly, triangular facies, high forehead, hypertelorism, more coarse features compared to noonan
Ectodermal: sparse/brittle/curly hair, dystrophic nails, nevi
ID, hypotonia, seizures, ALL risk

Question 5

Costello syndrome,

Answer 5

AD, HRAS
Polyhydramnios, FTT, DD/ID, coarse features, loose soft skin
Cardio: HCM, pulmonary stenosis, arrhythmia
Inc cancer risk (rhabdo, neuroblastoma, TCC of bladder)

Question 6

Heriditary Hemorrhagic Telangiectasia:

Answer 6

AD, ACVRL1 (52%), ENG (44%), SMAD4
Nosebleeds, mucocutaneous telangiectasias, visceral AV malformation
Hemorrhage is often 1st symptom of cerebral AVM

Question 7

Holt-Oram syndrome:

Answer 7

AD, TBX5 (70%), SALL4
AKA “Heart-Hand syndrome”
upper limb defects (carpal bone abnormalities, radial ray defects)
Cardio: septal defect, arrhythmia

Question 8

Noonan syndrome w/ multiple lentigines (LEOPARD):

Answer 8

AD, PTPN11 (95%), RAF1, BRAF
Lentingines, EKG abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormalities of genitalia, Retardation of growth, Deafness,
HCM also present
Dominant neg. mechanism in PTPN11; GOF> classic noonan

Question 9

Noonan syndrome:

Answer 9

mostly AD, PTPN11 (50%), sos1 (10%), LZTR1 (8%), RAF1 (5%)
originally called male turner due to similarities
webbed neck, ds palpebral fissures, pectus anomaly, pulmonary valve stenosis, hypertrophic cardiomyopathy
coagulation defects
ID in only 25%
Inc. leukemia risk

Question 10

Williams Syndrome

Answer 10

: AD, ELN
Supravalvular aortic stenosis, wide mouth w/ full lips, blue eyes w/ stellate iris, puffy lower eyelids
cocktail party personality
hypercalcemia
DD