Syndromes

Question 1

Ellis van creveld

What

Tetrad of features

Inheritance

Answer 1

Chondral and ectodermal dysplasia

Short stature
Post axial polydactyly
Ectodermal dysplasia
Congenital heart disease (partial ECD with common atrium)

AR

Question 2

Proportion of CoA in Turners

Answer 2

30%

Question 3

Peripheral pulmonary artery stenosis

Associations

Answer 3

Williams
Alagille
Rubella

Question 4

Friedreich Ataxia

Inheritance
Inset of ataxia
Cardiovascular manifestations

Answer 4

AR
Before 10years
Explosive dysarthria + nystagmus

Cardiomyopathy in 30%
HCM most common

Question 5

Mucopolysaccharidoses

Problem
Most common cause of death
Cardiac manifestations

Answer 5

Excessive GAGs accumulate in tissues

Cardio respiratory failure- cardiac involvement and upper airway obstruction

AR
MR
HCM
DCM

Question 6

Cardiac involvement in myotonic dystrophy

Inheritance

Answer 6

AD- expansion of CTG repeat

Fatty infiltration of AV conduction pathway and myocardium

Heart block
AF
atrial flutter
VT

Ventricular dysfunction
PPM

Question 7

Williams

Locus
Gene

Cardiac manifestations

Answer 7

7q11.23 microdeletion

ELN gene

Supravalvular aortic stenosis
PA stenosis
Coronary ostia stenosis
Renal artery stenosis

Higher incidence of prolonged QTc

Question 8

Jacobsen syndrome

Locus
Clinical features

Answer 8

11q terminal deletion
Usually de novo

Thrombocytopenia 
DD
SS
Pyloric stenosis 
Hypertelorism, ptosis, small ears
Meitopic craniosynostosis

CHD: 1/3rd VSD

Question 9

1p36 deletion

Answer 9

Second most common deletion syndrome
Terminal deletion/partial monosomy

Facies
Ocular
Hearing
Severe ID
CHD

Question 10

RASopathy

What
Inheritance
Collective prevalence

Answer 10

Germline mutation in genes which encode Ras/MAPK pathway

AD

1 in 1,000

Question 11

Noonan syndrome with HCM

Gene

Answer 11

RAF1

PTPN11 overall more common

Question 12

Costello syndrome

Gene
Facies
Hair 
\_\_\_ deviation hand
Cardiac

Answer 12

HRAS

Macrocephaly
Down slanting palpebral fissures 
Low set posteriorly rotated ears
Depressed nasal bridge
Curly hair 

Ulnar

MAT, HCM
10-15% neoplasia- rhabdomyosarcoma

Question 13

Cardio-facio-cutaneous

Genes (3)
Features
CHD

Answer 13

BRAF, MEK1, MEK2

Macrocephaly
Hypertelorism 
Ptosis
Coarse facial features 
Dry skin

PS, HCM, septal defects

Question 14

Rubenstein Taybi

Most common gene involved
Clinical features
Associated risk (1)
CHD

Answer 14

CREBBP

SS
Broad thumbs
Low hanging columella
Micro-retrognathia

ID
Cancer: leukaemia, lymphoma, anaesthetic risk

CHD: ASD, VSD, PDA, CoA, BAV