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Adult Congenital Heart Disease

An Illustrative Case

That Teaches Where We Have Been, Where We Are and Where We Are

GoingThomas M. Bashore MD

Professor of Medicine

Senior Vice Chief, Duke Medical Center

Duke Heart Center

Outline

• The Population

• Case Presentation– Historical review

– Exam and procedures now used

– The clinical issues

• Future options– Our patient

– Adult congenital heart patients in general

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The Population

• About 1.5-2.0 million adults living with congenital heart disease in the U.S.– Almost 1 per 100 births. 40,000 births per year– #1 cause of death among birth defects– 25% will need surgery to survive– About 85% with CHD now live to adulthood

• Many more adults now living with congenital heart disease than children– 46% with “simple”, 38% with moderately

complex, 16% with “great complexity”

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Improved Outcomes In Congenital Heart Disease

Larsen SH et al. JACC 2017;69:272

yearsImprovement in outcomes evident in every category over the years

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Patient Presentation

• History– 29 year old woman who has known tetralogy of Fallot

and has undergone 2 prior surgeries, first as an infant, then as a teenager. Just moved to your area and establishing care. Denies any CV symptoms except a few palpitations at times and very mild dyspnea going up stairs.

– She has a lot of questions

• Physical examination:– Healthy appearing. Normal BP at 118/72 mmHg. HR of 73

bpm with occasional premature beat. Normal lung exam. Cardiac exam: No JVD. Positive hepatojugular reflux. Mild RV lift. Grade 2/6 pulmonary flow murmur. Grade 1/4 pulmonary regurgitation murmur. Otherwise normal.

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In the News Lately

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We know kids generally do well after TOF repair

Shaun White

Duke Heart Center

Tetralogy of Fallot Anatomy

VSD- usually large. 80% perimembranousSubpulmonic stenosis- significant in most casesPulmonary valve- may be bicuspid. May or may not be stenoticOver-riding aorta- if >50% over the RV, called Double Outlet RVLAD from RCA crossing RV outflow in 3-7%

Narrowed Subpulmonary Outlet

VSD

Overriding aortic valve

HypertrophicRV Walls

Reported 3 cases and put the syndrome together with a review of the literature in 1888

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Being at the Right Place at the Right Time: Wilhelm Ebstein

Prolific writer:-272 papers. Mostly on nutrition!!(Pel-Ebstein fever)

-Only 12 in cardiologyDescribed a single case report of a 19 year old:

W. Ebstein. Über einen sehr seltenen Fall von Insufficienz der Valvula tricuspidalis, bedingt durch eine angeborene hochgradige Missbildung derselben. Archiv für Anatomie, Physiologie und wissenschaftliche Medicin, Leipzig, 1866, 238-254

RA

RV

LA

LV

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Tetralogy of Fallot

• Most common cyanotic heart lesion (356/million live births)

• Accounts for ~15% of new referrals to ACHD clinics

• Prior to surgical repair, ~50% died in first few years of life and almost all died by 30 years of ageFox D; Krasuski RA et al. CCJM. 2010;77(11):821-8.

RA

RVLV

LA

Ao

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Creation of theSystemic to Pulmonary Artery

Shunt

Blalock A, Taussig H. The surgical treatment of malformations of the heart in which there is pulmonary stenosis or pulmonary atresia. JAMA 1945;128:189

Helen Taussig noticed children with TOF did better if ductus did not close

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Initial Palliative Procedures in TOF

Waterston Shunt1962

ModifiedBlalock-Taussig

1962Classic

Blalock-Taussig1944

Potts1946

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Tetralogy of Fallot Repair

VSD Patch

RV Outflow Patch

Lillehei CW et al. Direct vision intracardiac correction of the TOF, pentology of Fallot and pulmonary atresia defects. Ann Surg1955;142:418.

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The Clinical Problem of Low PressurePulmonary Regurgitation

PA

PA

RV

RV

Low Pressure PR High Pressure PR

May be little diastolic gradient between PA and RV. May be soft murmur despite severe PR.

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Chest X-Ray in TOF

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Chest X-Ray in TOFThe Dutch Version

https://www.slideshare.net/z2jeetendra/congenital-heart-disease-and-vascular-abnormalityxray-findings

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Echocardiography in Repaired TOF

Pulmonary SystolicFlow Doppler

Pulmonary DiastolicFlow Doppler

RALA

RV

LV

Ao

PV

PA

RV

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Cardiac MRI in Repaired TOF

RV Outflow Patch

RV

LV

RV Outflow Patch

RV

LV

PA

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Cardiac MRI in Repaired TOF

RPA LPA

MPARV LVRA

LPAAo

SVC

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Coronary CTA

Ropers D et al. JACC Img 2008;1:679

PA

Ao

LAD anterior to PA

RV

http://aibolita.com/heart-and-vessels/50874-anomalous-aortic-origin-of-coronaries.html

LAD

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What About Her Palpitations?

• Does she need them further evaluated?1. Maybe

2. Yes, but she is just anxious

3. Yes, as they might be a big deal

4. No, save the money

5. I have no earthly idea

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ECG in Repaired TOF

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QRS Width in TOF

Gatzoulis MA et al Circulation 1995;92:23

QRS tends to prolong as RVsize increases

180 msec

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Sudden Cardiac Death

Circulation 2011;124:672

Circulation 2012;126:1944

Majority Unexplained

In Adults with Congenital Heart Disease

Presumption in TOF is Sudden Death related to ventricular arrhythmias

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Ventricular Arrhythmias in TOF

Eur Heart J. 2016;38:268-276

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What About Antibiotic Prophylaxis

• Does she need it?1. Yes

2. No

3. Maybe

4. Oh heck, why not?

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Lifetime Risk of Endocarditis

• General Population 5-7 cases per 100,000 patient years

• Cardiac Conditions Per 100,000 patient years– MVP with no murmur 4.6– MVP with MR 52– VSD 145 (1/2 risk if closed)– AS 271– Rheumatic heart disease 380-440– Prosthetic heart valve 308-383– Cardiac surgery for native IE 630– Prior native endocarditis 740– Surgery for prosthetic IE 2160

Pallasch TJ. Dent Clin North Am 2003;47:6

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Absolute Risk of Endocarditis from a Dental Procedure

• Must be a lot since the AHA told us so for over 50 years and the dentist is the problem

• Estimates of Absolute Risk from a dental procedure:– General population 1 per 14 million– MVP 1 per 1.1 million– Congenital Heart Disease 1 per 475,000– Rheumatic Heart Disease 1 per 142,000– Prosthetic Valve 1 per 114,000– Prior endocarditis 1 per 95,000

• Number of episodes that could be prevented is very, very small even if 100% effective

• Difficult to design a trial to prove efficacyPallasch TJ. Dent Clin North Am 2003;47:66

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Clinical Studies of IE Prophylaxis

• Prospective Randomized Trials: NONE

• Retrospective 2 year case control study– Netherlands

• IE rare after dental procedures so prevention rarer, even if 100% effective

• 20 cases of IE after dental procedure:

5 occurred despite adequate prophylaxis

Van der Meer JT, et. al. Lancet 1992;339:1

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Class IIa (LOE B): Before Dental Procedures:a) Prosthetic cardiac valve or prosthetic material used for cardiac valve repair.

b) Previous infective endocarditis

c) Unrepaired and palliated cyanotic CHD, including surgically constructed palliative shunts and conduits.

d) Completely repaired CHD with prosthetic materials, whether placed by surgery or catheter intervention, during the first 6 months after the procedure

e) Repaired CHD with residual defects at the site or adjacent to the site of a prosthetic patch or prosthetic device that might inhibit endothelialization

Class IIa (LOE C): At time of membrane rupture before vaginal delivery:a) Prosthetic cardiac valve or prosthetic material used for cardiac valve repair.

b) Unrepaired and palliated cyanotic CHD, including surgically constructed palliative shunts and conduits.

Class III (LOE C): None for nondental procedures in the absence of active

Infective Endocarditis Prophylaxisin Adult Congenital Heart Disease

Warnes CA et al. JACC 2008;52:1890-19

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Duke Heart Center

She Asks Whether It is OK to Get Pregnant

• What do you think is her risk of pregnancy?

1. None

2. Low or trivial

3. Moderate

4. High

5. Very High

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Maternal Risk Stratification

• ZAHARA (Cardiac Disease in Pregnancy)– Weighted Risk Score (mechanical valve, LV

outflow obstruction, arrhythmias, hx of meds, cyanosis, AV valve regurg, CHF).

• CARPREG (Cardiac Disease in Pregnancy)– Risk Score (Poor functional Class, prior

cardiac events, LV heart obstruction, LVEF 40%)

• WHO (World Health Organization)– Risk Classification

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• Prior cardiac event

• NYHA Class >II

• Cyanosis (sat <85%)

• Left heart obstruction

• Systemic ventricular dysfunction

Siu S et al. Circulation 2001

Maternal Cardiac Risk FactorsCanadian CARPREG study

15 (AVA <1.5 cm2)20 (MVA <2.0 cm2)30 (LVOT peak gradient >30mmHg)40 (LVEF <40%)

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Duke Heart Center

WHO Classification

Definition Types of CHD

I No increase in morbidity or mortality Mild PS, small PDA, repaired ASD, VSD, PDA, PAPVR,

II Small increase in mortalityModerate increase in morbidily

Unoperated ASD or VSDRepaired tetralogy of Fallot

II-III Small increase in mortalityModerate increase in morbidily

Mild LV dysfunction, native or prosthetic tissue valvular disease, Marfan without dilatation,Bicuspid with aortic root <45 mm, repaired coarctation

III Significant increase in mortality or morbidity

Systemic RV, Fontan, unrepaired cyanotic heart disease, complex CHD, mechanical valve, Marfan with aorta >40- 45 mm, Bicuspid with aorta >45-50 mm

IV Extreme risk. Pregnancy contraindicated

Pulmonary hypertension, severe systemic ventricular dysfunction with sx, symptomatic AS, severe native coarctationRegita-Zagrosek et al Eur Heart J

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Carrying a Pregnancy to Term

Regitz-Zagrosek V. European Heart J 2011

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General ApproachTo Pregnancy in Congenital Heart Disease

Patients• Pregnancy management

– Fetal echo between 18-22 weeks– Generally vaginal delivery– Cesarean for anticoagulated pts, Marfan, aortic aneurysm,

severe AS or pulmonary hypertension• Termination

– Only for highest risk– Dilation and evacuation in hospital setting– Preferably in first trimester before symptoms

• Post-pregnancy– Postpartum monitoring

• First 48 hours• Up to 6 weeks for moderate to high risk

Brickner ME. Circ 2014:130:273

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Duke Heart Center

She is a Little Dyspneic

• Does she need a pulmonary valve replacement due to her pulmonary regurgitation?

1. Yes

2. No

3. Maybe so

Duke Heart Center

She is a Little Dyspneic

• Indications for PVR in repaired tetralogy of Fallot– Multiple, but basically dependent on PR

severity and RV size and function

– RV volume data from MRI- >140-170 ml/m2

RVEDI

• For the sake of argument, let’s say she does– RVEDI by MRI = 150 ml/m2

– Severe PR due to transannular patch across the PV

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Surgical Options for Intervention in

Severe PR following TOF Repair• Surgical

– Bioprosthetic• Pericardial• Porcine

– Homograft– Xenograft– Mechanical

Mechanical PVR after tet repair

Stulak et al Semin TCV Surg2016;82

Cryopreserved or decellularized

homografts

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Armenian Valve Replacment

Porcine Xenograft

Cost: One Dollar

And you get to eat the pig!

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Options for Intervention in Severe PR following TOF Repair

• Surgical– Bioprosthetic PVR

– Mechanical PVR

– Homograft/Xenograft PVR

• Percutaneous Options– Melody Valve®

– Sapien®

– Others

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Transcatheter Pulmonic Valve Replacement

(TPVR)

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First Percutaneous Valve Replacment

CowJugularVein

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Data on Melody Valve

IDE= Investigation Device Exemption; PAS= Post-approval Study; PMSS= Post-market Surveillance Study

Medtronic.com website. 7/21/2016

Pre-stenting has markedly reduced PR incidence

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So What Can Our Patient Expect in the Future?

• Bioprosthetic valve stenosis/regurgitation

• Possible LV dysfunction

• Possible aortic root enlargement and AR

• Arrhythmias- atrial and ventricular

• Worsening pulmonary artery branch stenosis– Possible need for stenting

• Bottom Line: Most ACHD patients need

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Duke Heart Center

Some of the “Bigly” Issues in Adult Congenital Heart Disease- From a Patient Perspective

• Social acceptance

• Psychological support

• Exercise options and sports

• Insurability

• Paying for expensive diagnostic and treatment regimens

• Employment

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Some of the “Bigly” Issues in Adult Congenital Heart Disease- The Physician

Perspective

• Evidence-based data lacking– Variety of Society Guidelines- most everything LOE C

– Need for national shared database (Examples)• RV response to meds not the same as LV response

• Pulmonary hypertension treatment variable

• Need better understanding of when to advance treatment options

• Transplant and advanced therapies problematic

• Genetics poorly defined. Possible genetic engineering.

• Inadequate number of practitioners– 2016- ACGME approved Adult Congenital Fellowships

• Inadequate communication of new knowledge

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National and International Advocacy

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3D Modeling and Printing May Help to Guide RVOT Intervention and Predict Problems

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49% 15% 4% 17% 13%

Schievano S et al. JCMR 2007;9:687-95.

Variations in RVOT Morphology

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Reducing the Size of the RVOT to Create a Better Landing

Zone

Sizarov A et al. Arch CVD 2016;109:348-58.

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Self-expanding platforms

• Self-expanding nitinol stent with woven polyester covering and porcine pericardial valve in center

• 25F delivery system

• Early animal data promising

Schoonbeek RC et al. Circ Cardiovasc Interv 2016;9:e003920.

Harmony Valve

Venus PValve

• Self-expandable nitinol stent with porcine pericardial valve – prox/dist10mm>center

• 14-22F delivery system

• Early animal data promising

• Report of 6 successful European implants

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Tissue Engineering

• Tissue engineering with autologous cells on self-expanding stent platform

Schlegel F et al. Med Sci Monit Basic Res 2015;21:135-40.

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Novel Educational EffortsThe Stanford Virtual Reality

Heart

http://www.stanfordchildrens.org/en/innovation/virtual-reality/stanford-virtual-heart

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Stanford Virtual Heart Project

http://www.stanfordchildrens.org/en/innovation/virtual-reality/stanford-virtual-heart

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Summary

• We have come a long way in recognizing issues in patients with ACHD as exemplified by our patient with tetralogy of Fallot

• There is great excitement that recent efforts will result in a marked improvement in the care of the ACHD population

• Technologic advances and a national effort to educate everyone on issues facing this group of patients is underway and is overdue

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THANKS!