what happens when the congenital heart patient grows … · what happens when the congenital heart...

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