Adult

Congenital
Heart Disease
Medical Viva
The Basics
(whilst you figure out what the hell is happening!)
 History
The Lesion Symptoms Co-morbidities Medications
• What is the lesion? • HF (dyspnoea, • Liver • Diuretics
(Cyanotic vs oedema, reduced ET) • Renal • Anti-arrhythmics
acyanotic) • Arrhythmias • Respiratory • Beta-blockers
• Procedures, • Embolic events • PVR agents
when/why, any • Cyanosis • Anticoagulation
more? • Syncope
• Follow up (recent, • Nutrition/growth
frequency,
investigations,
changes in
management)
 Examination
General Peripheral Central Chest
• build (malnutrition) • clubbing (cyanotic) • central cyanosis • scars
• plethoric • capillary refill • JVP • PPM
(polycythaemia) • temperature • palpation (apex beat,
• cyanosis • pallor thrill/heave)
• observations • pulse • murmurs
• peripheral oedema • pulmonary oedema
• hepatomegaly
 Investigations
Bloods Imaging TTE
• FBC (polycythaemia) • CXR (sternotomy, • Ventricular function
• EUCs (renal fin) PPM, cardiomegaly, • Valve competency
• Coags pulmonary oedema) • Pulmonary pressures
• ECG (AF, right heart
strain, p-wave +/- RHC
changes)
Acyanotic
CHD
 VSD
Basics History Examination Investigations
Common in paeds Symptoms depend on shunt % Dyskinetic apex beat ECG
Rare in adults • LA enlargement
• High spontaneous closure Ratio <1.4 (small restricted) Harsh pansystolic murmur • LVH
rate • Asymptomatic • Left sternal edge • RV strain
• No HD consequence • Loudest on expiration
Features: CXR
• Left-to-right shunt Ratio > 1.4 (mod or unrestricted) Thrill left sternal edge • Cardiomegaly
• Shunt % + symptom • PAH
severity depends on • +/- Eisenmengers syndrome NOTE TTE
⚬ Size of defect • +/- LV failure • Murmur is louder with • Location of VSD
⚬ LV: RV pressure smaller defects • Shunt %
difference Hence history of worsening • Direction of shunt
⚬ Ratio of PVR: SVR dyspnoea suggestive of larger
shunt size/fraction Cardiac cathetrisation
Treatment: • Quantify shunt %
• VSD closure • Intra-cavity pressures
⚬ MUST be performed • PVR + SVR
early
￭ Before significant
PAH + shunt
reversal occur
⚬ Contra-indicated with
severe PAH
￭ Closure cause
acute RV failure
 ASD
Basics History Examination Investigations
Left-to-right shunt Asymptomatic Ejection systolic murmur ECG
• Incidental murmur • Pulmonary valve flow • RV strain
Shunt % depends on murmur
• Size of defect Larger shunts (Qp:Qs > 1.5) • Louder on inspiration CXR
• LA-RA pressure difference • Dyspnoea • Cardiomegaly
• Relative compliance of LV + RV • Palpitations Fixed splitting S2 • Enlarged PA
• Ratio SVR:PVR • CCF • Equalisation of LA:RA
• Paradoxical stroke pressure TTE
Small shunts = no consequence • Location of ASD
• Shunt fraction + direction
Large shunts > 50% NOTE • PAP/ RV function
• Increased PBF -> increased PVR • Flow across ASD does not
• PAH produce murmur in itself
• RVH
• SVT/ AF Associations
• +/- Shunt reversal • MV prolapse
(Eissenmengers) • MR

Treatment:
⚬ Shunt ratio > 1.5
• Options
⚬ Percutaneous closure
(Watchmans device)
⚬ Open repair
Cyanotic CHD
 Fontan Circulation
Basics History Examination Issues
Palliative single ventricle Cardiac NO cyanosis- after fontan • “Failing” Fontan:
circulation • Ventricular failure completed (if present, sign of ⚬ Arrhythmia
• Arrhythmias decompensation) ⚬ ventricle diastolic
Staged procedure to allow • Shunts- increased PVR; dysfunction reducing
• Pulmonary circulation to residual defects Cachexia preload
mature • Poor exercise tolerance Developmental delay ⚬ right single ventricle
• Decrease in normal (fixed CO) ⚬ AV valve regurgitation
neonatal PVR ⚬ Venovenous collaterals
• Unloading of systemic Developmental delay
ventricle • CPB/ hypoxia/ thrombo- The following is poorly tolerated
embolism • Reduced preload-
PBF + CO depends on hypovolaemia/
• Preload Thromboembolism pneumoperitoneum > 10
• PVR • Warfarin- ALL mmHg
• Ventricular function • Increased PVR
• A-V valve function Paradoxical embolism • AV valve stenosis/
• Sinus rhythm • Seizures/ cerebral regurgitation
abscesses/ stroke • Ventricular dysfunction
• Arrhythmias
Protein losing enteropathy
• Oedema Pregnancy: mWHO III-IV
• Ascites • Fontan = single (left)
• Immunodeficiency ventricle = high risk
• Hyper-coagulability • Failing Fontan (cyanosis,
• Hypocalcaemia LVEF <40%) = extreme risk
 Repaired Tetralogy of Fallot
Basics History Examination Investigations
Definition Most patients are largely midline sternotomy scar ECG
• (1) Perimembranous VSD asymptomatic and can • RVH + strain
• (2) Overriding aorta exercise diastolic murmur (PR) • AF
• (3) RVOT obstruction
• (4) RVH RV dysfunction may only be RVH/TR (clinical and on TTE) TTE
evident on echocardiography • Pulmonary regurg
Epidemiology and exercise stress testing • RV dysfunction
• Most common cyanotic • VSD (recurrence)
congenital HD • LV function
• 10% of all CHD Prognosis
• 25% have an ASD also No repair
(“pentalogy of fallot”) • 25% survival- adolescence
• 3% survival - age 40
(Primary surgical repair
• VSD closure Early primary repair
• Widening of RVOT • 90% survival- age 30
• +/- PV repair
 Eisenmengers
Basics History Examination Investigations
(1) Increased PBF (1) Severe hypoxaemia Central cyanosis ECG
• Pressure + volume load on • Dyspnoea Clubbing • RA enlargement
pulmonary vasculature • Angina Polycythaemia • RVH + strain
• Syncope
(2) Increased PVR • Fatigue AF/ flutter CXR
• Often fixed PVR • Enlarged PA
unresponsive to (2) Haemoptysis Signs of PAH • Peripheral pruning
vasodilators • RV heave • Cardiomegaly- RV
(3) Atrial fibrillation/ flutter • Loud P2
(3) Irreversible structural • PR murmur – early diastolic TTE
changes (4) Hyperviscosity syndrome • Underlying defect
• Intimal hyperplasia • Headache +/- End-stage • Direction of shunt
• Medial remodeling + • Presyncope • RV failure • PAP
hypertrophy • Thromboembolism- PE • LV failure • RVH + RV fn
• Adventitial thickening
(5) Paradoxical embolism RH study
(4) RVH • Cerebral abscesses • PASP > 0.66 SBP precludes
• Stroke repair of lesion
(5) Shunt reversal (R-> L) • Seizures

(6) Hypoxaemia + cyanosis (6) Bleeding diathesis

• vWF deficiency
NOTE: Pregnancy mortality 30- • Platelet dysfunction
60% (mWHO IV) • Hepatic congestion->
reduced clotting factors
 Eisenmengers
Treatment

Medical Surgical
(1) Home 02 (1) Heart-lung transplantation
Improve hypoxaemia
(2) Lung transplant + correction of shunt defect
(2) Pulmonary vasodilators
Less effective in Eisenmengers- fixed PVR
NOTE
(3) Phlebotomy Surgical correction of shunt defect is contra-
Hyperviscosity syndrome indicated once severe PAH + shunt reversal
develops
More resistant to usual PAH treatment Would precipitate acute RV failure
Fixed PVR
Connective
Tissue
Disorders
Marfans Syndrome
 Marfans Syndrome
Basics History Examination Investigations
Autosomal dominant Family history MSK • ECG
connective tissue disorder • Sudden death • Tall stature ⚬ Conduction
• Defect in Fibrillin-1 • Aortic dissection/ rupture • Long slender limbs abnormality
glycoprotein • Aortic surgery • Thoracic kyphoscoliosis ⚬ BBB
• Pectus excavatum/
CVS CVS carinatum • CXR
• Aortic dilatation + • Arrhythmia or murmur • Arachnidactyly
dissection/ rupture • Aortic dissection • Hyper-mobile joints • ECHO
⚬ AD- 40% lifetime risk • Endocarditis ⚬ AR
• AR • Serial TTE/ CT Head ⚬ MVP + MR
• MV prolapse + MR • AVR/ Bentalls • High-arched palate ⚬ Ao root dilation
• Conduction abnormalities- • TMJ disclocation
BBB RESP • Myopia • CT/MR aortogram
• Dyspnoea • Lens dislocation ⚬ Ao root + Asc aorta
RESP • Pneumothorax • Retinal detachment diameter
• Early onset emphysema
• Restrictive ventilation- Eyes CVS • Pulmonary function tests
kyphoscoliosis; pectus • Myopia - glasses • AR murmur ⚬ Restriction
excavutum + carinatum, • Lens dislocation • MV prolapse + MR murmur
• Recurrent pneumothorax • Retinal detachment
RESP
Eyes Pregnancy • Obstructive- emphysema
• Myopia • High risk Ao rupture/ • Restrictive- kyphosis/
• Lens dislocation dissection pectus
• Retinal detachment • NB dural ectasia
 Marfans Syndrome
Treatment
Medical Surgical
B-blockers (1) AVR
• Reduce rate of dilatation
• Reduce risk rupture/ dissection (2) Ao root +/- Asc Ao replacement
• Ao root > 50 mm
• Ao root > 45 mm (with RF’s)
• Ao root > 40 mm – pregnancy desired
• Z- score > 2.75 cm/m2 (children)

Risk factors
• Rapid expansion > 2mm / yr
• 1st degree relative with dissection/ rupture
• Concomitant indication for AVR
• Z score > 2.75 cm/m2 (children)

Ao root
• Measured at sinus of valsalva

Z score
• Ao root diameter: BSA ratio
Ehlers
Danlos
Syndrome
 Ehlers Danlos Syndrome
Basics History + Exam Investigations Issues
Inherited CT disorder MSK • Bloods: Avoid hypertension - shear
• Joint hyper-mobility ⚬ coats (normal) stress --> vascular damage
Abnormal production pro- • Skin fragility + hyperelasticity ⚬ platelet dysfunction
collagen + collagen • Easy bruising + bleeding Lung protective ventilation -
• OA + MSK pain • ECG avoid PTx
Various types ⚬ Conduction
CVS abnormality Care with lines/etc
Vascular type (type IV) • MR
• Associated with increased • Conduction delay • ECHO Obstetrics
mortality • Ao root dilation/ dissection ⚬ AR • Bleeding- APH or PPH
• POTS ⚬ MVP + MR • Uterine rupture
⚬ Ao root dilation
RESP
• Dilated trachea
• Spontaneous pneumothorax

Complications
• Vascular rupture
• Bowel rupture
• Uterus rupture
• Spontaneous pneumothorax