what happens when the congenital heart patient grows … · what happens when the congenital heart...
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What Happens When The Congenital Heart
Patient Grows Up?
Dr Luke Burchill MBBS PhD
Adult Congenital Heart Program
Oregon Health Science University
Fixed but not cured
Zebras becoming Horses
Fixed but not curedPioneers of CHD surgery
Eileen Saxon
The first infant to undergo shunt surgery for tetralogy of Fallot
Modified from Dr. H. Kaemmerer, Munich
1940 1950 1960 1970 1980 1990 2000 20100
20
40
60
80
100
%
2025
40
55
7080 85 90
BT ShuntTOF repair
Atrial switch
Fontan
Arterial switch
Norwood
Milestones in congenital heart diseaseSurgical innovation
improves survival in CHD
Fixed but not cured
• There are now more than > 1.5 million
adults living with CHD in the United States
• ACHD population grows by 5% each year
Surgical innovation
improves survival in CHD
ACHD admissions are increasing
102% increase in the last decade
Marelli Circulation 2014
The CHD population is aging
Marelli Circulation 2007
and becoming more complex
Cardiac mortality is high
Diller Circulation 2015
Fixed but not cured
Fixed but not cured
• 33YO man
• Tetralogy of Fallot
• VSD patch
• RV to Pulmonary
artery conduit
• Anomalous LAD off
the right sinus of
valsalva
• Reduced exercise
capacity over the
last 4 months…
Cardiac Arrest
Ventricular fibrillation
Calcified conduit
Compression of RCA
99% RCA stenosis
Fixed but not cured
Fixed but not cured
• 30YO woman
• Patent ductus
arteriosus closed at
birth
• Uneventful first
pregnancy
• Presents with severe
abdominal pain in
second pregnancy
Echocardiogram
Aortic dissection
Fixed but not cured
Fixed but not cured
• 55YO man
• Childhood murmur
• Echo at age 40
demonstrated a
bicuspid aortic valve
and dilated aorta
• Represents 7 years
later with BP 191/107
• Motor vehicle
accident
Coarctation of the aorta
Fixed but not cured
Fixed but not cured
• 25YO woman
• Cerebellar stroke
• Large ASD with
mitral regurgitation
• Surgical closure and
MV repair &
annuloplasty ring
• 2 years post-op
presented with
NYHA III limitation
Echocardiogram
RA
IVC
Membrane between the RA and IVC with evidence of turbulent flow
both in systole and diastole
SVC
IVC
Cardiac MRI
• Genetic factors
• Missed diagnosis
• Disease recurrence
• Correct diagnosis but incorrect Rx
• Correct Rx but late complications
• Changing hemodynamics in adulthood
• Acquired comorbidities
Fixed but not cured
Perloff J. Circulation 1991
Fixed but not cured
Management by ACHD specialists
Frequent follow up is needed
Testing and treatment in ACHD centers
Regional centers of excellence
ACHD Cardiology
(Level 3 Training)
Pediatric Cardiology
Congenital Surgeon
Transplant Surgeon
Cardiac anesthesia
Electrophysiology
Interventional
cardiology
Intensive care
Obstetrics
Psychology /
Psychiatry
Social
Support Service
Imaging
Genetics
Rheumatology
Respirology/PAH
Nurse Specialist(s)
Pathology
Heart Failure /
Transplantation
Courtesy Erwin Oechslin, Toronto
ACHD Care
Mylotte D, Circulation. 2014 May 6;129(18):1804-12
Impact of Specialty ServiceACHD expertise
improves survival
• Adult Congenital Heart Surgeries
• In the US between1988-2003: 30,250 surgeries.
• In hospital mortality:
Congenital Surgeon 1.87%
[95% CI, 0.62 to 3.13]
Non-Congenital Surgeon 4.84%
[95% CI, 4.30 to 5.38%]
P<0.0001Karamlou T, Circulation. 2008 Dec 2;118(23):2345-52.
CHD surgical expertise
improves survival
• US Survey of ACHD patients1
• Only 10% being seen in ACHD specialty centers
• 42% of those returning to specialty care had 3-10yr
lapse in care
• Quebec Study of ACHD patients2
• 87% outpatient visits to non-cardiologists
• 68% seen in emergency departments
• 62% ED presentations required non-cardiac
services
Guidelines vs Reality
1. Gurvitz, et al, for AARCC, 2011
2. Mackie, AS, Am J Cardiol. 2007 Mar 15;99(6):839-43
Fixed but not cured
ACHD Survival Guide
What you need to know
about ACHD
Fixed but not curedACHD Survival Guide
History Examination
Tests When to refer
Step 1:
Define
ACHD
Fixed but not cured
“ACHD”
is not a diagnosis
Fixed but not curedACHD Survival Guide
Unique
anatomy
Unique
presentation
Unique
challenges
Unique
outcomes
Step 1:
Define
ACHD
Fixed but not curedACHD Survival Guide
Unique
anatomy
Unique
presentation
Unique
challenges
Unique
outcomes
Step 1:
Define
ACHD
Anatomy vs Assoc Defects
Simple Lesions (examples)
• Atrial septal defect• RV dilation / dysfunction, Pulmonary HT, Arrhythmia
• Ventricular septal defect• LV dilation / dysfunction, Pulmonary HT, Endocarditis
• Patent ductus arteriosus• Pulmonary HT, Endocarditis
• Congenital pulmonary stenosis• Pulmonary stenosis / regurgitation, RV hypertension, Arrhythmia
• Bicuspid aortic valve• Aortic stenosis / regurgitation, Aortic dilation / dissection,
Coarctation
Moderate Complexity (examples)
• AV septal defect• Residual ASD / VSD, Left AV valve (mitral) regurgitation, LV
outflow tract obstruction
• Subaortic Stenosis• Recurrent subaortic stenosis, LVH, ventricular arrhythmia, HF
• Partial Anomalous Pulmonary Venous Return• RV dilation and dysfunction
• Coarctation of the Aorta• HT, LVH, ventricular arrhythmia, HF, SCD, accelerated CAD
• Anomalous coronary artery• Coronary ischemia, HF, ventricular arrhythmia, SCD
Anatomy vs Assoc Defects
Severe Complexity (examples)
• Tetralogy of Fallot• RVOT obstruction, RV hypertension, pulmonary regurgitation, RV
dilation and dysfunction, arrhythmias, VT & SCD
• Transposition of the Great Arteries• Systemic RV dilation and dysfunction, Pulmonary HT, LVOT
obstruction, arrhythmias, Baffle complications
• Single Ventricle / Hypoplastic left heart
syndrome status post Fontan• Circulatory dysfunction / HF, Arrhythmia, Thromboembolism,
Protein losing enteropathy, Plastic bronchitis
• Eisenmenger Syndrome• RV dilation / dysfunction, Arrhythmia, Cyanosis, Hyperviscosity,
Hemoptysis, Endocarditis, Cerebral abscess, Gout, CKD
Anatomy vs Assoc Defects
Diller Circulation 2015
Age & Complexity vs. Survival
For patients with complex
CHD:
56% will reach adulthood
Median age of death = 23 years
Diller Circulation 2015
Age & Complexity vs. Survival
Fixed but not curedACHD Survival Guide
Unique
anatomy
Unique
presentation
Unique
challenges
Unique
outcomes
Step 1:
Define
ACHD
• Being different vs. not being different
• Revealing CHD vs. not revealing CHD
• Social isolation, teasing, bullying
• Body image concerns
• Relinquishing control from parents
• Employment & insurance
• Social cognition deficits: difficulties processing social
information and social cues
Tong et al, Cardiol Young, 1998; Freedland et al, Psychosom Med, 2003; Claessens et al, Eur J CV
Nurs, 2005; Rutledge et al, JACC, 2006; Berghammer et al, Int J Cardiol, 2006; Bellinger, Dev Med Child
Neurology, 2010; Adams et al, Psychosomatics, 2012; Chiang et al, J Adv Nurs, 2014
Unique challenges
General anxiety/stress 82%
Heart/health-related anxiety 71%
Depressed mood 60%
Coping with medical condition 49%
Adjusting to poor/worsening health status 15%
Surgical/interventional preparation 12%
Family difficulties 10%
Sleep difficulties 10%
Psychosocial impact of living with CHD:
Presenting Problems in an outpatient clinic
Ferguson & Kovacs, Congenit Heart Dis, 2016
General anxiety/stress 82%
Heart/health-related anxiety 71%
Depressed mood 60%
Coping with medical condition 49%
Adjusting to poor/worsening health status 15%
Surgical/interventional preparation 12%
Family difficulties 10%
Sleep difficulties 10%
Psychosocial impact of living with CHD:
Presenting Problems in an outpatient clinic
Ferguson & Kovacs, Congenit Heart Dis, 2016
Fixed but not curedACHD Survival Guide
Unique
anatomy
Unique
presentation
Unique
challenges
Unique
outcomes
Step 1:
Define
ACHD
• Serious CV disease at a younger age
• Many remain compensated until late
• Functional decline may go unrecognized
• Appear “well” despite circulatory dysfunction
• Some ACHD conditions are associated with
idiosyncratic conditions and presentations:
– Fontan → Diarrhea → Protein losing enteropathy
– Mustard → Cyanosis → Baffle leak
– Ebstein → Arrhythmia → Wolf Parkinson White
Unique presentation
• Separating heart related anxiety from symptoms
arising from cardiac disease can be challenging
• Objective testing & serial evaluation is important
• Heart related anxiety is a diagnosis of exclusion
NOT a starting point
Unique presentation
Fixed but not curedACHD Survival Guide
Unique
anatomy
Unique
presentation
Unique
challenges
Unique
outcomes
Step 1:
Define
ACHD
Verheugt . Eur Heart J 2010.
Mode of Death
• 80% of ACHD deaths are associated with
– Heart failure
– Arrhythmia
– Sudden death
– Aortic disease and
– Pulmonary HT
• When screening for high risk ACHD patients
think: “Heart ASAP”
Unique outcomes
• 80% of ACHD deaths are associated with
– Heart failure
– Arrhythmia
– Sudden death
– Aortic disease and
– Pulmonary HT
• When screening for high risk ACHD patients
think: “Heart ASAP”
Unique outcomes
The most common cause
of death in ACHD patients
Heart Failure
90.7%
21.1%
-0.2
0
0.2
0.4
0.6
0.8
1
1996 1998 2000 2002 2004 2006 2008 2010 2012
ACHD vs Non-ACHD Heart Failure Admissions in the United States, %
Change from 1998
non-ACHD
ACHD
ACHD HF Admissions
Non
ACHD
ACHD
ACHD HF Admissions
• Volume overload
– Left to right shunts, valvular regurgitation
• Pressure overload
– Valvular stenosis and other obstructive disease
• Ventricular failure, intrinsic myocardial disease
• Pulmonary HT
• Systemic arterial hypertension
• Coronary artery disease
• Cyanosis
• Intractable atrial arrhythmias
Causes of HF in ACHD
Buckberg Journal of Thoracic and CV Surg 2014
RV ≠≠≠≠ LV
Tetralogy of FallotNormal RV
RV adaptation to loading
conditions
Broberg & Burchill Int J Cardiology 2015
Hematoxylin and eosin stain of a cardiac biopsy taken from a patient with congenital
heart disease showing myocardial fibrosis.
Dense replacement fibrosis Diffuse microscopic fibrosis
Structural remodeling
Broberg & Burchill Int J Cardiol 2015
Physiologic remodeling
• 41YO woman
• TOF, CKD
• 22q microdeletion
• NYHA Class II-III
• Dilated RV
• Severe pulmonary
regurgitation
• Dilated LV with
LVEF 45%
• HF consult
B-blockers?
ACE inhibitor?
Spironolactone?
• Regarding standard HF medications:• Benefit is likely highest in patients with 2-ventricle
circulation with a systemic LV systolic dysfunction
• Treatment of HF in complex ACHD
should be done in conjunction with a
CHD cardiologist
Stout Circulation 2016
Structural
intervention
Structural
intervention
Directed
hemodynamic
therapy
Directed
hemodynamic
therapy
EP device therapyEP device therapy
Neuro-hormonal
manipulation
Neuro-hormonal
manipulation
Acquired Heart Failure
Structural
intervention
Structural
intervention
Directed
hemodynamic
therapy
Directed
hemodynamic
therapy
EP device therapyEP device therapy
Neuro-hormonal
manipulation
Neuro-hormonal
manipulation
Neuro-
hormonal
manipulation
Neuro-
hormonal
manipulation
EP device
therapy
EP device
therapy
Directed
hemodynamic
therapy
Directed
hemodynamic
therapy
Structural
intervention
Structural
intervention
Congenital Heart Disease
Pulmonary regurgitation
Post Melody valve
Leading cause of ER visits
by ACHD patients1
Arrhythmias
Verheugt Heart 2010
What is the rhythm?
What is the rhythm?
• Septal patches, scars, incisions predispose
• Often subtle, easily missed
• Hemodynamics must be assessed (?HF)
• Ventricular arrhythmias occur in 10% of TOF
patients1: sudden death risk is 2% per decade2
• Rhythm and rate control can be challenging
and EP expertise is often required
• Don’t forget: SCD risk and Anticoagulation
Arrhythmias
1. Harrison JACC 1997
2. Murphy NEJM 1993
Heart Rhythm Society Guidelines 2014
Anticoagulation
• Vitamin K antagonists can reasonably be
considered the oral anticoagulation of choice
for adults with moderate or complex CHD
pending safety and efficacy data on newer oral
anticoagulants.
• Rivaroxaban contraindicated in liver disease
• Liver disease is common in ACHD patients
Fixed but not curedACHD Survival Guide
History
Step 1:
Define
ACHD
• Age first diagnosed?
• Blue vs Pink baby?
• # Surgeries / Institution / Surgeons name
• Original operative report is critical
• Pediatric cardiologist name / institution
• Hospitalization history including ER visits
• Dental / vaccinations & endocarditis rule out
• Family history of CHD (aortopathy > dissect?*)
• Sx’s of HF / Arrhyth / PHT / CAD
• Drugs: prescribed and social
Key points on history
NYHA Class in ACHD
Diller Circulation 2005
NYHA, BNP and Systolic Function
Are Associated
Bolger Circulation 2002
• Reduced compared to health controls
• Similar to adults with acquired HF
• Associated with objective measures of HF
• Decline in NYHA Class has prognostic
significance in ACHD
• Document NYHA Class at each visit
• Worsening NYHA class or NYHA Class III/IV is
not normal in ACHD and warrants additional
testing
NYHA Class in ACHD
Fixed but not curedACHD Survival Guide
History Examination
Step 1:
Define
ACHD
• Dysmorphism, short vs tall stature, chest and
spine deformities, nutrition, dentition
• Pulse rate and regularity,
• Cyanosis and clubbing, O2 saturations
• Stigmata of endocarditis
• JVP at 45 degrees, 4 Limb BP (aortic coarct)
• Palpate: Parasternal lift, Thrills associated with
severe valve stenosis, restrictive VSD
• Auscultate: S1, S2, S3/5, Murmurs
• Abdomen HSM, Ascites. Legs Edema
Key points on exam
Syndrome CardiacTrisomy 21 / Down Syndrome AV Septal aka AV Canal Defect
Tetralogy of Fallot
ASD, VSD, PDA
Turner Syndrome Left sided obstruction
- Bicuspid aortic valve
- Coarctation
- Aortic stenosis
- MV abnormalitiesAnomalous pulmonary venous return
Aortic dilation and dissection
Williams Syndrome Left and right heart obstruction
Supravalvar aortic stenosis, Coarctation
Peripheral pulmonic stenosis
ASD, VSD
Coronary stenosis
22q11 microdeletion Interrupted aortic arch
Tetralogy of Fallot
Truncus arteriosus (+/- pulmonary atresia)
Double outlet RV
Aortic arch abnormalities
Fixed but not curedACHD Survival Guide
History Examination
Tests
Step 1:
Define
ACHD
Baseline Tests• EKG
– Confirm rate / rhythm
• Blood work
– CBC, BMP. Consider: LFTs, Hepatitis serology
• CXR
– Cardiac size, signs of HF
– Prior interventions (coils, stents)
– Retained pacemaker leads
• Syndromes
– 22q11 microdeletion: TSH, T4, Calcium, phosphate
– Trisomy 21: TSH, CBC
Cardiac imaging• If you are considering cardiac imaging ask 2
questions:
1. Is the person performing the test trained in
congenital heart disease?
2. Is the person interpreting the test trained in
congenital heart disease?
• If the answer is NO defer cardiac imaging until
the patient is seen in an ACHD center
Fixed but not curedACHD Survival Guide
History Examination
Tests When to refer
Step 1:
Define
ACHD
When to refer• Almost all ACHD patients will benefit from at
least one assessment in an ACHD center
• ↑ Complexity = ↑ Need for ACHD review
• ↑ Symptoms = ↑ Urgency
• Think HEART-ASAP and refer early
• Heart Failure, Arrhythmia, Sudden death risk,
Aortopathy, Pulmonary HT
OHSU outpatient clinic
503-494-7400
www.ohsu.edu/cardiology
How to referHow To Refer
• “Orphan conditions” once seen as rare
congenital heart defects are now commonly
treated in childhood
• There has been a dramatic increase in the
number of ACHD patients requiring cardiac
care
• Early recognition of common complications is
important along with early consultation and
referral to an ACHD center
Conclusions