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old congential + connective tissue diseases Flashcards

1
Q

what problems would a bicuspid aortic valve have for a patient?

A

no problems at birth
eventually develop stenosis +/- regurg
predisposes to IE/SBE

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2
Q

what is ASD?

A

atrial septaldefect
hole connects the atria
secundum defects high in septum are commonest
often asymptomatic until adulthood

LV compliance lowers with age so L to R shunt

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3
Q

what are the symptoms of ASD?

A

dyspnoea
pulmonary HTN
arrhythmia
chest pain

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4
Q

what are the signs of ASD?

A

AF
raised JVP
pulmonary ESM
PHT -> TR or PR

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5
Q

what are the complications of ASD?

A

paradoxical emboli

eisenmenger’s syndrome (raised RA pressure- R to L shunt- cyanosis)

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6
Q

what investigations would you do for ASD?

A

ECG- secundum: RAD
CXR- pulmonary plethora
ECHO- diagnostic

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7
Q

what is the treatment for ASD?

A

transcatheter closure

recommended in adults if high pulmonary to systemic blood flow ratio >/1.5:1

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8
Q

what is coarctation of the aorta?

A

congenital narrowing of aorta
usually occurs just distal to origin of left subclavian
M>F

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9
Q

what assocations are there with coarctation of the aorta?

A

bicuspid aortic valve

turner’s syndrome

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10
Q

what are the signs of coarctation of the aorta?

A

radio-femoral delay + weak femoral pulse
HTN
systolic murmur/bruit heard best over L scapula

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11
Q

what are the complications of coarctation of the aorta?

A

HF

IE

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12
Q

what investigations would you do + results for coarctation of the aorta?

A

CXR- rib notching
ECG- LV strain
CT angiogram

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13
Q

what is the treatment of coarctation of the aorta?

A

balloon dilatation + stenting

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14
Q

what is VSD?

A

ventricular septal defect

hole connects ventricles

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15
Q

what are the causes of VSD?

A

congenital

acquired- post MI

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16
Q

what is the presentation of VSD?

A

severe HF in infancy

or incidental in later life

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17
Q

what are the signs of VSD?

A

1) small holes which are haemodynamically less significant give louder murmurs

harsh, panystolic murmur at left sternal edge
systolic thrill
left parasternal heave

2) larger holes -> PHT

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18
Q

what are the complications of VSD?

A

IE
PHT
eisenmneger’s

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19
Q

what would you see on ECG for VSD?

A

small- normal

large- LVH + RVH

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20
Q

what would you see on ECG for VSD?

A

small- mild pulm oedema

large- cariomegaly + marked pulmonary plethora

21
Q

what is the management of VSD?

A

surgical closure indicated if symptomatic with large shunt

22
Q

what is fallot’s tetralogy?

A

most common congenital cyanotic heart defect

abnormal separation of truncus arteriosus inot aorta and pulmonary arteries

23
Q

what is the pathology of fallot’s tetralogy?

A

1) VSD
2) pulmonary stenosis
3) RVH
4) overriding aorta

24
Q

what is associated with fallot’s tetralogy?

A

di george- CATCH-22

25
what is the presentation of fallot's tetralogy?
infants- hypercyanotic episodes, squatting, clubbing adult- often asymptomatic unoperated- cyanosis, ESM of PS repaired- dyspnoea, palps, RVF
26
what is seen on ECG for fallot's tetralogy?
RVH | RBBB
27
what is seen on CXR for fallot's tetralogy?
coeur en sabot (clog shaped heart)
28
what is seen on ECHO for fallot's tetralogy?
anatomy + degree of stenosis
29
what is the treatment of fallot's tetralogy?
surgical usually before 1yo closure of VSD correction of pulmonary stenosis
30
what is the epidemology of marfan's syndrome?
autosomal dominant spontaneous mutation in 25% M=F prevalence = 1/5000
31
what is the pathophysiology of marfans
mutation in FBN1 gene on ch5 which encodes fibrillar 1 glycoprotein fibrillin 1 is essential component of elating histology- cystic medial necrosis
32
what are the categories of presenation in marfans?
cardiac ocular MSK
33
what are the cardiac presentations of marfans
aortic aneurysm +dissection aortic root dilatation -> regurg MV prolpase +/- regurgitate
34
what are the ocular presentations of marfans
lens dislocation: superotemporal
35
what are the MSK presentations of marfans
``` high arched palate arachnodactyly arm-span>height pectus excavatum scoliosis pes planus joint hypermobility ```
36
what are the complications of marinas?
ruptured aortic aneurysm spontaneous pneumothorax diaphragmatic hernia hernias
37
how do you diagnose marfans
2/3 organ systems must be involved
38
what are the ddx of marfans
MEN-2b homocystinuria EDS
39
what investigations would you do in marfans
``` slit lamp exam CXR ECG ECHO MRI genetic testing- FBN-1 mutation ```
40
what would you see on slit lamp exam in marfans
ectopia lentis
41
what would you see on CXR in marfans
widened mediastinum scoliosis pneumothorax
42
what would you see on ECG in marfans
arrhythmias- premature atrial + ventriuclar ectopics
43
what would you see on ECHO in marfans
aortic root dilatation-> AR | MVP + MR
44
what could you see on MRI for marfans
dural ectasia (dilatation of neural canal)
45
what is the management of marfans
1) refer to ortho, cardio + optho 2) lifestyle- reduce cardiointensive sports 3) bb slow dilatation of aortic root 4) regular cardiac echo- surgery when aortic root >/5cm wide
46
what is the pathogenesis of EDS?
rare heterogenous group of collagen disorders 6 subtypes with varying severity most common types 1 + 2 are autosomal dominant
47
how does EDS present?
``` hyperelastic skin hypermobile joints cardiac- MVP, AR, MR + aneurysms fragile blood vessels- easy bruising, GI bleeds poor healing ```
48
what are ddx for EDS?
cutis laxa- loose skin + hypermobile joints pseudoxanthoma elasticum- skin laxity marfans

CARDIO (10 decks)

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