Download “Simple” Congenital Heart Disease

“Simple” Congenital Heart Disease
Richard A. Krasuski, M.D.
Director of Adult Congenital Heart Disease Services
The Cleveland Clinic
Current Landscape of CHD
• 0.8% of live births in the U.S. excluding
bicuspid AV, MVP
–Improved diagnostic techniques
–Improved medical, catheter-based and
surgical techniques
• Now >1,00,000 adults with congenital
heart disease (adults>children)
• Minimal exposure and training for
medical residents
Improving Natural History Has Lead to More
Adults with CHD
1960s
2010
5%
15%
10%
35%
50%
85%
Surviving to Adulthood
Died in First Year
Died within 18 Years
Vander Velde et al. Eur Jour Epi 2005;20:549–57; Warnes et al. Circulation 2008;118:e714-e833.
Current Landscape of CHD
• Can separate into 2 general groups
–Patients recognized and rx as children
–Adults diagnosed de novo
• Due to complexity adults with complex
CHD best followed by subspecialists
• Newly Published Care Guidelines
• Nearly all ACHD patients followed by
generalists +/- general cardiologists
Warnes CA, Williams RG, Bashore TM et al. J Am Coll Cardiol 2008;52(23): e1-121.
General Approach to Adults with CHD
• Understand the anatomy and surgeries
–Review the pediatric records
• Be aware of warning signs and sxs
–Syncope
–Progressive exertional dyspnea
–Increasing palpitations
General Approach to Adults with CHD
• Perform careful exam with auscultation
–Look at JVP, feel pulses in all extremities
–Listen for “hard to hear” murmurs
• Utilize noninvasive diagnostic modalities
–ECG
–Echocardiogram
–CT and MRI
Case # 1
• 53 year old woman with no
previous cardiac history who
presents with progressive fatigue
• ROS is notable for exertional
dyspnea climbing 1-2 flights of
stairs due to “aging”
Case # 1
• Examination is notable for a split
second heart sound unchanged
with respiration and a soft SEM
• Exercise stress test shows
decreased exercise capacity but no
ECG changes
• Echocardiogram is perfomed
The most likely diagnosis in this
patients is:
A.
B.
C.
D.
E.
Patent Foramen Ovale
Atrial Septal Defect
Tetralogy of Fallot
Ventricular Septal Defect
Ebstein anomaly
Atrial Septal Defects
• Most common cardiac malformation in
adults
• More common in females 2-3:1
• 75% are secundum defects
• Symptoms can be very subtle
– Dyspnea and fatigue most common
• Commonly mistaken for other disorders
Types of Atrial Septal Defects
Secundum ASD
• Rule of 10%
– 10% with multiple defects
– 10% with anomalous veins
– 10% unrepaired can develop Eisenmenger’s
• Shunt determined by size of defect and
compliance of ventricles
• Decompensation can occur in older patients
– LV diastolic dysfunction (HTN, CAD)
– Atrial fibrillation
– Development of pulmonary HTN
Shunt Lesions
• Most common form of ACHD
• Frequently diagnosed in the adult
population
• Results in increased pulmonary blood
flow
–Pulmonary hypertension
–Right heart enlargement
–Arrhythmias → atrial fibrillation
Variations in Septal Anatomy
Adapted from Krasuski RA, Bashore TS. Rev. in Cardiovasc. Med. 2005
Atrial Septal Defect vs PFO
• ASD
• PFO
– Incidence ~1/1000
– Usually L to R shunt
– Also has R to L shunt
– Incidence ~1/4
– Usually only R to L shunt
– “Stretched PFO” can result in L
to R shunt
– Association with stroke
– Can be concurrent with ASA
– Results in “flow”
complications
– Association with stroke
– Can be concurrent with ASA
– No “flow” complications
– Right heart enlargement
– Pulmonary HTN
– Atrial fibrillation
Krasuski RA CCJM 2007;74(2):137-47.
What is a significant ASD?
• Qp/Qs > 1.5
• RA+RV Enlargement
• ~ Normal PVR (<7-10 Wood units or
PVR/SVR<0.3)
• Anatomy conducive to percutaneous
repair
Therapeutic Approach to ASD
• Medical
– ???
• Surgical repair
– 0-1.2% mortality
– Significant morbidity, discomfort, scar
• Percutaneous
– New gold standard for simple, significant
secundum defects
“Medical Therapy” vs. Surgical Correction
Konstantinides S. et al. NEJM 1995;333(8):469-73.
Atrial Fibrillation as Source of Morbidity
Following Surgical Repair
Gatzoulis M.A. et al. NEJM 1999;340(11):839-46.
ASD Occluders
ASDOS Sideris Button
Amplatzer
CardioSeal
Angel Wing
Helex
Guardian Angel
StarFlex
Atrial Septal Defect Closures
I IIa IIb III
I IIa IIb III
I IIa IIb III
Closure of an ASD either percutaneously or
surgically is indicated for right atrial and RV
enlargement with or without symptoms.
A sinus venosus, coronary sinus, or primum
ASD should be repaired surgically rather than
by percutaneous closure.
Surgeons with training and expertise in CHD
should perform operations for various ASD
closures.
Warnes CA, Williams RG, Bashore TM et al. J Am Coll Cardiol 2008;52(23): e1-121.
Case # 2
• 21 year old male college student
referred after visit to the infirmary
with upper respiratory symptoms
• No prior medical problems or
symptoms. Heart murmur since birth
• On examination he has BP 124/70,
normal S1 and normally splitting S2
and a IV/VI pansystolic murmur
Case # 2
• He is referred for an
echocardiogram which shows
–Perimembranous VSD with 5 m/sec
velocity (100 mm Hg gradient)
across the lesion
–Normal right and left ventricular
function
–No other associated lesions
The most reasonable management
in this patient is:
A.
B.
C.
D.
E.
Referral for surgical evaluation
Referral for heart catheterization
Referral for device closure
Reassurance
Reassurance and antibiotic
prophylaxis
Ventricular Septal Defects (VSD)
• Most common congenital lesion seen in
children (~25%)
• Less common in adults (2nd after ASD)
– Smaller lesions often close spontaneously
– Larger lesions present with heart failure and
get repaired
• Many different types
– Membranous
– Muscular
− Inlet
− Outlet
Locations of VSDs
1. Membranous VSD - (80%)
2. Muscular VSD - (10% of
VSD) often multiple defects
3. Supracristal VSD - (5%)
involve LVOT/RVOT
4. AV canal defects - involve
inflow portion of the septum
General VSD Facts
• Membranous often have associated
“aneurysmal” tissue
• Small (<0.5 cm) = restrictive
– Loud murmurs
– Clinically benign
• Larger lesions
– Softer Murmurs
– LV volume overload and pulmonary hypertension
– Most common cause of Eisenmenger syndrome
Case # 3
• 48 year old woman with a history of
a “hole in my heart”
• Was followed by cardiologists as a
child but hasn’t seen one in 35 yrs
• Tells you she’s been short of
breath and very limited since
childhood
Case # 3
• Examination is notable for
–BP 95/60
–cyanotic lips and clubbing of the fingers and
toes
–low pitched systolic murmur at the LLSB
which increases on inspiration
• Echocardiogram shows an enlarged
right ventricle with estimated RV
systolic pressure of 100 mm Hg
Case # 3
• Blood work shows a hemoglobin of
21 with a HCT of 63
• BUN of 28 and Cr of 1.0
• Otherwise normal electrolytes
• An echocardiogram was performed
The most reasonable next step
would be:
A. Referral to a cardiologist for right heart
catheterization and possible initiation of
vasodilator therapy
B. Phlebotomize 2 units
C. Phlebotomize 2 units with equal
replacment of normal saline
D. CT scanning to rule out pulmonary
embolism
E. Referral to hospice care
Eisenmenger Syndrome
• Pulmonary vascular disease progresses to systemic
pressures and shunt reverses
• Multiple systemic complications (hypoxia)
– Erythrocytosis (Therapeutic phlebotomy only if symptomatic)
– Proteinuria and ↓ GFR
– Increased Uric Acid
• Patients can rapidly deteriorate
– ARF from contrast dye load
– Arrhythmias
– Anesthetic agents
• Lifespan > IPH but still significantly reduced
Age at Death (y)
Limited Previous Impact on Survival in
Eisenmenger Syndrome
Wood P. Br Med J 1958;701-9; Young D et al. Am J Cardiol 1971;658-69; Corone S et al. Arch Mal Coeur Vaiss 1992; 521-6;
Saha A et al. Int J Cardiol 1994;188-207; Cantor WJ et al. Am J Cardiol 1999; 677-81.
CHD-PH Accounts for 10% of PAH in the
REVEAL Registry
.
N=2525
.
CHD
19.5%
Drugs/
toxins
10.5%
CVD/
CTD
49.9%
IPAH
46.2%
APAH
50.7%
Other**
5.5%
Badesch DB et al. Chest. 2010;137:376-387.
Portal
HT
10.6%
HIV
4%
Pulmonary Hypertension in the
ACHD Patient
• Can be pulmonary venous or pulmonary
arterial
• Depending on lesion, can have left ventricular
dysfunction, right ventricular dysfunction or
both
• Differentiation is essential and impacts
management
Which of the following statements about
coarctation of the aorta is correct:
A. The most common presentation in adults is
endocarditis
B. Only surgical methods of correction are
possible in the adult
C. Endocarditis prophylaxis is indicated if
unrepaired
D. It should be considered as a possibility in
young hypertensive patients
E. Most commonly associated with VSD
Coarctation of the Aorta
Coarctation of the Aorta
• Common lesion (8% of all CHD)
• Likely due to extraneous ductal tissue which
contracts following birth
• 50-85% have associated BAV
• 10% with berry aneurysms
• Most common presentation in adult is during w/u
for secondary HTN
• RAS activation – HTN seen after repair
Coarctation Angioplasty/Stenting
• Native coarctation:
–Reasonable success after 1 year of age
–Long term concern regrading aneurysm
formation
• Post-op Re-coarctation:
–Good short term results
–Persistent long term success
Interventional and Surgical Treatment of
Coarctation of the Aorta in Adults
Intervention and Peak-to-Peak Coarctation Gradient
I IIa IIb III
I IIa IIb III
Intervention for coarctation is recommended in the
following circumstances:
a) Peak-to-peak coarctation gradient greater than or equal
to 20 mm Hg.
b) Peak-to-peak coarctation gradient less than 20 mm Hg
in the presence of anatomic imaging evidence of
significant coarctation with radiological evidence of
significant collateral flow.
Choice of percutaneous catheter intervention versus
surgical repair of native discrete coarctation should be
determined by consultation with a team of ACHD
cardiologists, interventionalists, and surgeons at an
ACHD center.
Warnes CA, Williams RG, Bashore TM et al. J Am Coll Cardiol 2008;52(23): e1-121.
Which of the following statements about
transposition of the great vessels is correct:
A. The presence of a shunt in D-transposition is
essential to survival during infancy
B. The atrial switch (Mustard/Senning) procedure
can eventually be complicated by heart failure
C. The atrial switch (Mustard/Senning) procedure
can eventually be complicated by valvular
regurgitation
D. Heart block can occur in “congenitally corrected”
transposition
E. All are correct
Transposition of the Great Arteries (D-TGA)
Ventriculoarterial
Discordance
LA
RA
Ao PA
Atrio-ventricular
Concordance
LV
RV
Mustard Operation for D-TGA
SVC
LA
RA
IVC
Arterial Switch Operation for TGA
LV
RV
Congenitally-corrected Transposition of
the Great Arteries (L-TGA)
Ventriculoarterial
Discordance
Ao PA LA
RA
Atrio-ventricular
Discordance
RV
LV
Problems with “Corrections”
• Anatomic RV in LV position
–Systemic AV valve regurgitation
–Systemic ventricular dilatation
• Complete heart block
–32% lifetime prevalence
–~2%/year incidence in adults
Which of the following components does
not comprise tetralogy of Fallot:
A.Ventricular septal defect
B.Atrial septal defect
C.Overriding aorta
D.Pulmonary outflow obstruction
E.Right ventricular hypertrophy
Tetralogy of Fallot
Ao
LA
RA
LV
RV
Classic Repair of Tetralogy of Fallot
AO
PA
TRANSANNULAR
PATCH
LV
RV
Tetralogy of Fallot
• Surgically repaired adults usually do well
for 2-3 decades, then have consequences
due to PI
– Right heart failure
– Arrhythmias
• When to consider pulmonic valve
replacement
– Progressive decline in exercise tolerance
– Progressive increase in indexed RVESV,
RVEDV
– Severe decrement in RV function
– Severe widening in QRS (>180 msec)
Tetralogy Repair and It’s Residual
RV Outflow Tract Tachycardia After
Tetralogy of Fallot Repair
Complexity of Lesions Should Dictate
Involvement of Specialists
complex
•
•
•
•
•
15%
Simple ASD
Simple Aortic Disease
Simple Mitral Disease
Simple PDA
Mild valvular PS
47%
38%
60% with prior operations
50% will have reoperation
3:1 interventions cath-based
simple
moderate
•
•
•
•
•
•
•
•
•
•
Mitral Atresia
d-TGA
CCTGA
DORV
Heterotaxy
Single ventricle
Conduits
Truncus
Cyanotic
Eisenmenger
•
•
•
•
•
•
•
•
•
•
•
TOF
SV defect
APV drainage
AVC
Primum ASD
Sub PS
AoCo
Ebstein
VPS
PR
Complex PDA or VSD
Marelli A et al. Am Heart J 2009;157:1-8. ;Warnes C et al. J Am Coll Cardiol 2001;37:1170-5.;
Warnes CA, Williams RG, Bashore TM et al. J Am Coll Cardiol 2008;52(23): e1-121.
Complexity of Lesions Should Dictate
Involvement of Specialists
Being seen at an adult congenital heart disease center:
Simple
At least once to
determine needs for
future follow-up
Moderate
Every 12 to 24
months
Complex
Every 6 to 12
months
Warnes CA, Williams RG, Bashore TM et al. J Am Coll Cardiol 2008;52(23): e1-121.
Summary
• Adult CHD is generally more common than
realized
• Due to a shortage of CHD specialists, general
cardiologists/primary M.D.s will continue as
major caretakers
• Thorough history and review of pediatric
records is essential in initial evaluation
• Noninvasive imaging, particularly echo should
be first-line in evaluation and is useful for
serial follow-up