Congenital heart diseases and valvular disease Flashcards
Associations of VSD
Holt-Oram syndrome
Intrauterine infections
Down syndrome
Tetralogy of Fallot
AVSD
Transposition of great vessels
Maternal diabetes
Holt-Oram syndrome
- gene mutation
- features
TBX5 gene
- autosomal dominant
Cardiac septal defects- ASD.
Upper limb defects- carpal bones
ASD associations
Fetal alcohol syndrome
Down syndrome
Intrauterine infections
Holt-Oram syndrome (hand-heart syndrome)
VSD heart murmur
Holosystolic murmur @ lower left sternal border
- increases with afterload (handgrip)
Mid-diastolic murmur
Loud S2 (pulmonary hypertension)
ASD heart murmur
Systolic ejection murmur
Wide fixed split S2 in 2nd left intercostal space
VSD ECG changes
LV and RV hypertrophy
ASD ECG changes
RV hypertrophy
SVTs
PR prolongation
P pulmonale- peaked, narrow P wave
VSD CXR features
Increased pulmonary vascular markings
Left atrial/ventricular enlargement
Later- enlarged right ventricular and pulmonary artery
Most common type of ASD
Ostium secundum
Surgical indications of ASD
Large shunt (Qp:Qs >1.5:1)
Right atrial/ ventricular hypertrophy
Heart failure
Paradoxical emobilism
Platypnoea-orthodeoxia syndrome
Platypnoea-orthodeoxia syndrome
Right-to-left shunt causing dyspnoea + cyanosis when in upright position
Prognosis of ASD- spontaneous closure
40% by age 5
Genetic causes of VSD
Down syndrome
Edward syndrome
Patau syndrome
Cri-du-chat syndrome
Apert syndrome
aquired causes of VSD
Post-MI
Aortic valve replacement
When is surgical management of VSD/ ASD contraindicated?
Severe pulmonary hypertension/ Eisenmenger syndrome
AVSD associations
Down syndrome- strongest
Gestational diabetes
PFO associated with what syndrome?
Loeys-Dietz
- marfanoid habitus
- associated with aortic aneurysm + dissection
- features: hypertelorism (wide eyes), cleft palate, easy bruising, keloids, tortuous arteries
Best initial study for PFO
TTE with agitated saline
- TEE more sensitive
Transcranial doppled with agitated saline- could detect microbubbles in cerebral arteries
Complications of PFO
Migraine with aura
Ischaemic stroke/ TIA
Paradoxical emb0lism/ systemic embolism
Risk factors for PDA
Prematurity
Maternal factors:
- Rubella
- Alcohol
- Phenytoin
- Prostaglandin use
Chromosomal trisomies
Resp distress syndrome
Clinical features of PDA
Large PDA:
- failure to thrve
- heart failure
- bounding pulse
- wide pulse pressure
- laterally displaced apical impulse
A machinery, loud continuous murmur loudest in the left infraclavicular region (S2) is associated with what congenital heart defect?
Patent ductus arteriosus
Contraindications of pharamacological closure of PDA
Ductal dependent- cyanotic diseases
Persistent pulmonary hypertension with right-left shunt
Oliguria
Thrombocytopenia
Recent haemorrhage
Necrotising enterocolitis
Pharmacological Rx of PDA
inhibition of prostaglandins:
- Indomethacin
- Ibuprofen
Coarctation of aorta associations
Turner syndrome
Bicuspid valve
VSD
PDA
acquired- Takayasu arteritis, severe arteroscleorisis
Clinical features of coarctation of aorta
Lower limb cyanosis
Brachial-femoral delay/ different BP
Lower limb claudication
Laterally displaced apical pulse
Tinnitus, headache, epistaxis
SEVERE, ductal closure: shock, multi-organ failure
Coarctation of aorta heart murmur
Left posterior hemithorax- systolic ejection murmur
Left infraclavicular/ interscapular- continuous murmur
CXR features of coarctation of aorta
Figure of 3- hourglass shape of aortas
- dilated aorta
- dilated left subclavian artery
Rib notching- colternal internal thoracic/ intercostal arteries, ribs 3-8
Rx of critical and non-critical coarctation of aortia
Neonates
- Prosglandin E1 infusion (aprostadil)
Non-critical
- stent, surgery
- ballon angioplasty- adults
Monitoring in co-arctation of aorta
Screen for:
- re-stenosis
- aortic aneursym
- aortic dissection
co-arctation of aorta complications
Secondary hypertension
Aortic dissection/ rupture
Berry aneurysm- cerebral haemorrhage
HF
infective endocarditis
Pulmonary valve stenosis is associated with what genetic syndrome?
Noonan syndrome
- PTPN11 gene, chromosome 12
- short stature, webbed neck, hypertelorism, cardiac defects
Rx of critical and non-critical pulmonary valve stenosis
Crtical
- Prostaglandin infusion to maintain PDA
Non-critical
- Balloon valvuloplasty/ valve replacement
Features of tetrology of fallot
RVOTO from pulmonary stensosis
Right ventricular hypertrophy
VSD
Overriding aorta
Cyanotic congenital heart diseases
- Tetralogy of fallot
- Transposition of great vessels
- Ebstein anomaly
- Pesisten truncus arteriosis
- Hypoplastic left heart syndrome
- Total anomalous pulmonary venous return
- Tricuspid valve atresia
Eisenmenger syndrome from ASD, VSD
Tetrology of fallot associations
Genetic
- DiGeorge syndrome
- Down syndrome
Maternal expsoure
- Diabetes
- Alcohol
- Phenylketonuria
Tetrology of fallot cardiac murmur
Systolic ejection murmur at left upper sternal border
Single S2
RV heave/ thrill
Boot shaped heart is associated with…
Tetrology of fallot
Management of acute hypoxia in TOF
High flow O2
Squatting/ knee to chest= increases systemic vascular resistant
Further:
- IV Na bicarb for metabolic acidosis
- IVF
- Vasopressors- phenylephrine
- IV beta-blockers
TOF prognosis
50% 3-year survival
With surgery- >90% 25-year survival
TOF definitive treatment
Surgery within 1st year
- VSD repair- patch closure
- Resection of obstructure right infundibular structure
Palliative shunt if surgery not possible
Egg on a string heart on CXR is characteristic of what congenital heart defect?
Transposition of great vessels
RV hypoplasia and RA dilation with central cyanosis is characteristic of what congenital heart defect?
Pulmonary valve atresia
Non-immune hydrops fetalis, wolff-parkinson white syndrome and loud S1 is associated with what congenital heart defect?
Ebstein anomaly
Pathophysiology of total anomalous venous return
Connecting vein between venous circulation and pulmonary vein= oxygenation blood into right atrium
Heterotaxy is associated with what congenital heart defect?
Total anomalous venous return
- associated with asplenia (right isomerism)
heterotaxy= abnormal right-left axis (i.e. 2 right lungs, 2 spleens, 2 right atriums)
Etiology- persistent truncus arteriosus
Failure of neural crest cells to migrate to cardiac outflow tract= incomplete aorticupulmonary septum
DiGeorge syndrome is associated with what cardiac defects?
Tetralogy of Fallot
Persitent truncus arterosus
VSD, ASD
Hypoplastic left heart syndrome associations
Trisomy 13, 18
Jacobsen syndrome
Turner syndrome
Risk factors for aortic regurg
Bicuspid aortic valve
Aortic valve stenosis/ caclinosis
Rheumatic fever
Aortic dilation
- CTD
- Chronic hpetension
- Aoritis
- Thoracic aortic aneurysm
Taube sign is associated with what valvular heart disease?
Aoritc regurg
- pistol-shot sounds in femoral artery
Quincke sign and De Musset sign is associated with what valvular heart disease
Aortic regurg
Quincke sign- visible capillary pulse when pressure applied to fingertip
De Musset sign- rhyhtmic head nodding/ bobbing with heartbeat
What mumur…
High-pitched, blowing, decrescendo early diastolic murmur
- worsens with squatting/ handgrip
Aortic regurg
Indications for surgical management of AR
Acute, severe AR
Symptomatic chronic sever AR
Asymptomatic chronic severe AR with
- LVEF <55%
- LVESD >50mm
Serial echos in AR
Mild- 3-5 years
moderate= 1-2 years
Severe= 6-12 months
Most common cause of aortic valve stenosis
Aortic valve sclerosis
Aortic valve stenosis causes
Aortic sclerosis
Bicuspid aortic valve
Rheumatic fever
Harsh crescendo-decrescendo later systolic murmur with
- S4
- ejection systolic click
what valve disease?
aortic stenosis
Stage B aortic valve stenosis (progressive)
- mild
aortic valve area
transaortic velocity
mean aortic pressure gradient
Aortic valve area
- 1.5-2.9cm2
Transaortic velocity
- 2-2.9m/s
Mean aortic pressure gradient
- 10-19mmHg
Stage B aortic valve stenosis (progressive)
- moderate
- aortic valve area
- transaortic velocity
- mean aortic pressure gradient
Aortic valve area
- 1.0-1.4 cm2
Transaortic velocity
- 3-3.9 m/s
Mean aortic pressure gradient
- 20-39 mmHg
Stage c aortic valve stenosis - severe
- aortic valve area
- transaortic velocity
- mean aortic pressure gradient
Aortic valve area
- <1cm 2
Transaortic velocity
- >4 m/s
Mean aortic pressure gradient
- >40 mm Hg
Additional evaluation in aortic stenosis (outside of echo)
Low dose dobutamine stress testing (Stage 5, LVEF >50%)
Exercise testing- Stage C1/2
Cardiac catherisation
Coronary angiogram- preop
Anticoagulation in aortic valve replacement
Mechanical valve
- Warfarin +/- antiplatelet
- IN 2.5-3.5 if >1 risk factor for TE or older valves
Bioprostehtic valve
- antiplatelet +/- warfarin (3-6 months after SAVR/TAVR)
Mitral regurg causes
Primary
- degenerative: prolapse, annular calcification, ruptured chordae tendinae
- infective endocarditis
- Ischaemic- post-mi papillary muscle rutpure
secondary
- CAD
- dialted CMP
Holosystolic murmur (high-pitched, blowing)
Radiating to axilla
Mitral regurg
Also
- quiet s1
- s3 (severe)
Mitral valve prolapse associations
CTD
- marfan
- Elhers-Danlos
- osetogenesis imperfecta
Fragile X syndrome
MI
Acute rheumatic disease
Endocarditis
ADPCKD
Mid-systolic click
+/- High mid-late systolic murmur
what murmur?
mitral valve prolapse
Mitral valve proplase complications
AF
Ventricular ectopics
TIA/ stroke
Infective endocarditis
Right heart failure
Severe mitral stenosis- mitral area
MVA <1.5 cm2
Most preferred procedure for severe MS
Percutaneous mitral valve blloon commissurotomy
Eosphageal compression and recurrent laryngeal nerve palsy is associated with what valvular heart disease?
Mitral valve stenosis
