Adult Congenital Heart Disease
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1 Adult Congenital Heart Disease Anne Marie Valente, MD Boston Adult Congenital Heart Disease and Pulmonary Hypertension Program Division of Cardiology Brigham and Women s Hospital, Boston Children s Hospital Associate Professor, Harvard Medical School
2 No disclosures Disclosures
3 Outline To recognize the increasing prevalence of adults living with congenital heart disease To emphasize key points about common ACHD conditions To focus on the hemodynamic changes in pregnancy and the risk factors for women with heart disease
4 CHD Patients Reaching Adulthood U.S. Adult CHD Patients 2,600,000 2,200,000 1,800,000 1,400,000 1,000, , , ,000 20,000 new patients/yr 5% increase/yr 500, ,000 1,000, ,400,000 2,300,000 Hoffman 1978 Kaiser Fyler 1980 New England Ferencz 1985 Baltimore-DC Gilboa 2016 Quebec 2020
5 Breakdown of Severity of CHD in Adults Complex 15% 15% Heterotaxy Single Ventricle Transposition Conduits Cyanotic Eisenmenger 47% 47% 38% Simple Simple ASD Simple Aortic Disease Simple Mitral Disease Simple PDA 38% Moderate Tetralogy of Fallot Coarctation AV Canal Defects Ebstein Warnes C et al. J Am Coll Cardiol 2001 Marelli A et al. Am Heart J 2009
6 ACHD: Multisystem Disorder Neurologic: Lungs: Renal: Hepatic: Peripheral Vasculature: Orthopedic: Hematologic: Increased incidence of occult or clinically evident strokes Decreased level of executive functioning skills Anxiety, post-traumatic stress disorder, depression Psychosocial disorders Restrictive lung disease Pulmonary vascular disease Decreased perfusion Liver fibrosis Increased chronic venous insufficiency Scoliosis Kyphosis Anemia Coagulopathies
7 ACHD: Causes of Death n = 6933 subjects CONCOR registry n = 197 deaths; median age 48 yrs Verheugt CL et al. Eur Heart J 2010
8 Genetic Considerations Syndrome Common CHD Genetic Abnormality DiGeorge syndrome Aortic arch anomalies, TOF, Truncus arteriosus 22q11.2 deletion Down syndrome ASD, VSD, AVC, TOF Trisomy 21 Holt-Oram syndrome ASD, VSD, MV disease TBX5 Noonan syndrome PS, ASD, HCM PTPN11, KRAS, SOS1, RAF1, NRAS, BRAF, MAP2K1 Turner syndrome Coarctation, BAV, Aortopathy 45X Williams syndrome Supravalvar AS, Arteriopathy 7q11.23 deletion
9 Patent Foramen Ovale (PFO) Patency of the flap valve of the fossa ovalis Present in 25% of adults Not associated with R heart dilation Echocardiography in Pediatric and Congenital Heart Disease, ed. Geva T. Wiley, 2016
10 PFO and Cryptogenic Stroke CLOSE REDUCE <60 years age, cryptogenic stroke PFO, large shunt or aneurysm, no cerebrovascular disease At 5.3 years, PFO closure had a lower risk of recurrent stroke than those maintained on antiplatelet therapy (0% vs. 6%; HR, 0.03) At 3.2 years, PFO closure had a lower risk of recurrent stroke than antiplatelet therapy (1.4% vs. 5.4%; HR, 0.23). N Engl J Med 2017: 377: N Engl J Med 2017: 377:
11 PFO Management Mojadidi MK et al. J Am Coll Cardiol 2018
12 Atrial Septal Defect (ASD) Left-to-right shunt causing pulmonary overcirculation and R heart dilation Palpitations, dyspnea, exercise intolerance Exam findings: Fixed, split S2 EKG: RBBB, RAD* *for secundum ASDs (most common) If LAD -> think primum ASD Harrison s Textbook of Internal Medicine, ed. Loscalzo J. McGraw-Hill, 2018
13 Types of ASD Secundum ASD: most common Primum ASD: on the spectrum of AVC defects; associated with a cleft mitral valve Sinus venosus defect*: associated with partial anomalous pulmonary venous return * Not in the atrial septum Echocardiography in Pediatric and Congenital Heart Disease, ed. Geva T. Wiley, 2016
14 Partial Anomalous Pulmonary Venous Return Left-to-right shunt often discovered incidentally Results in mild R heart dilation Often asymptomatic or presents with symptoms similar to ASD Harrison s Textbook of Internal Medicine, ed. Loscalzo J. McGraw-Hill, 2018
15 Ventricular Septal Defect Left-to-right shunt causing left heart dilation Large VSDs cause symptoms of heart failure and poor growth in children Many VSDs found in adults are pressure-and flow-restrictive and do not cause LV dilation or symptoms If not restrictive -> Eisenmenger syndrome Harrison s Textbook of Internal Medicine, ed. Loscalzo J. McGraw-Hill, 2018
16 Types of VSD Muscular: often pressure- and flow-restrictive Membranous: outlet AV canal type: associated with abnormalities of the AV valves Subpulmonary: conal septal associated with R coronary cusp prolapse and aortic insufficiency Echocardiography in Pediatric and Congenital Heart Disease, ed. Geva T. Wiley, 2016
17 Pressure-Restrictive VSD The key is to have a HIGH velocity on Doppler interrogation of the VSD flow 4v 2 ~5 m/s = 4(25) = 100 mmhg gradient between the RV and LV Essential Atlas of Cardiovascular Disease, ed Libby P. Springer, 2009
18 Patent Ductus Arteriosus Exam: continuous murmur Large PDAs cause left heart dilation and may lead to Eisenmenger syndrome Transcatheter closure preferred if no evidence of pulmonary hypertension Harrison s Textbook of Internal Medicine, ed. Loscalzo J. McGraw-Hill, 2018
19 Expected Chamber Enlargement with Cardiac Shunts Shunt RA RV PA LA LV Aorta ASD VSD +/ PDA
20 Eisenmenger Syndrome ASD, VSD, or complex defect Qp and/or PAp, with L-to-R shunting Over time, PVR resulting in bi-directional flow PVR s: shunt reverses: R-to-L Eisenmenger syndrome: cyanotic
21 Eisenmenger Syndrome: Complications Hyperviscosity symptoms Bleeding Thrombosis, including stroke Arrhythmias Heart failure Gout Gallstones, cholecystitis Renal dysfunction Hypertrophic osteoarthropathy Sudden death
22 Ebstein Anomaly Failure of delamination of the septal leaflet of the TV Results in atrialized portion of the RV Symptoms depend on severity of TR and associated lesions Signs of R heart failure Cyanosis (if ASD/PFO) Exam: Widely split S1 sail sign 20% of patients have WPW Harrison s Textbook of Internal Medicine, ed. Loscalzo J. McGraw-Hill, 2018
23 Ebstein Anomaly Essential Atlas of Cardiovascular Disease, ed Libby P. Springer, 2009
24 Tetralogy of Fallot (TOF) The most common form of cyanotic CHD Spectrum of severity Surgical repairs have changed over time Palliative shunts Transannular patch RV-PA conduit Many adults undergo PVR later in life Harrison s Textbook of Internal Medicine, ed. Loscalzo J. McGraw-Hill, 2018
25 Repaired TOF: Sequelae in Adulthood RA/RV dilation RV dysfunction Pulmonary regurgitation Tricuspid regurgitation Branch PA stenosis Residual VSD LV dysfunction Aortic root dilation Arrhythmias Sudden death Harrison s Textbook of Internal Medicine, ed. Loscalzo J. McGraw-Hill, 2018
26 Transposition of the Great Arteries (TGA) Complete TGA D-loop TGA Congenitally Corrected TGA L-loop TGA Harrison s Textbook of Internal Medicine, ed. Loscalzo J. McGraw-Hill, 2018
27 TGA s/p Atrial Switch Senning Procedure (1957) Mustard Procedure (1963) Redirects blood flow to allow systemic venous return to get to the lungs Long-term complications: Systemic RV dysfunction Tricuspid regurgitation Atrial baffle complications Atrial arrhythmias Harrison s Textbook of Internal Medicine, ed. Loscalzo J. McGraw-Hill, 2018
28 TGA s/p Arterial Switch Jatene procedure (1975) The great arteries are transected and switched the coronaries are re-implanted Long-term complications: Branch PA stenosis Neo-aortic root dilation Neo-aortic regurgitation Coronary artery stenosis Harrison s Textbook of Internal Medicine, ed. Loscalzo J. McGraw-Hill, 2018
29 Congenitally Corrected TGA AV and VA discordance Symptoms depend on associated lesions: ASD Tricuspid valve dysplasia ± TR Pulmonary stenosis 1% incidence of complete heart block per year in adulthood May be diagnosed in adulthood Harrison s Textbook of Internal Medicine, ed. Loscalzo J. McGraw-Hill, 2018
30 Coarctation of the Aorta Presents with hypertension Exam: Brachial-femoral delay and diminished LE pulses Associations: Bicuspid aortic valve Ascending aortic dilation Aneurysms LVH Coronary artery disease Cerebral aneurysm Harrison s Textbook of Internal Medicine, ed. Loscalzo J. McGraw-Hill, 2018
31 % change from prepregnancy value Pregnancy Hemodynamics Plasma volume Stroke volume Heart rate Cardiac output SVR Post-partum Duration of pregnancy (weeks)
32 Risk Score for Pregnant Women with HD PREDICTOR POINTS Prior cardiac events or arrhythmias 3 Baseline NYHA III-IV or cyanosis 3 Mechanical valve 3 Ventricular dysfunction 2 High risk left-sided valve disease / left ventricular outflow tract obstruction Pulmonary hypertension 2 Coronary artery disease 2 High risk aortopathy 2 No prior cardiac intervention 1 Late pregnancy assessment 1 Silversides C et al. J Am Coll Cardiol
33 ACHD Question #1 A 30-year-old man is seen for systemic hypertension, not controlled on two medications. His blood pressure is 190/90 in the right arm. He has diminished femoral pulses. Which of the following is not associated with his condition? a) Bicuspid aortic valve b) Differential cyanosis c) Risk of premature coronary artery disease d) Intracranial aneurysm
34 ACHD Answer #1 A 30-year-old man is seen for systemic hypertension, not controlled on two medications. His blood pressure is 190/90 in the right arm. He has diminished femoral pulses. Which of the following is not associated with his condition? a) Bicuspid aortic valve b) Differential cyanosis c) Risk of premature coronary artery disease d) Intracranial aneurysm
35 ACHD Answer #1 Differential cyanosis (cyanosis of the toes but not the fingers) Occurs with a PDA and Eisenmenger syndrome Right-to-left shunt bypasses the upper limb vessels and flows directly into the descending aorta Does not occur with CoA
36 ACHD Question #2 A 28-year-old woman presents with a history of childhood heart surgery. She is 22 weeks pregnant. Which condition places her at highest risk for a maternal cardiac event during pregnancy? a) Unrepaired atrial septal defect with normal PA pressure b) Mild pulmonary stenosis, unrepaired c) Repaired tetralogy of Fallot d) Congenital mitral stenosis, s/p mechanical valve
37 ACHD Answer #2 A 28-year-old woman presents with a history of childhood heart surgery. She is 22 weeks pregnant. Which condition places her at highest risk for a maternal cardiac event during pregnancy? a) Unrepaired atrial septal defect with normal PA pressure b) Mild pulmonary stenosis, unrepaired c) Repaired tetralogy of Fallot d) Congenital mitral stenosis, s/p mechanical valve
38 ACHD Answer #2 Women with heart disease have a 15% incidence of maternal cardiac complications during pregnancy Mechanical heart valves are included in the CARPREG II risk score Complications include: valve thrombosis, valve failure/dysfunction, endocarditis, cerebral vascular accident, hemolysis, bleeding, ventricular dysfunction, heart failure and arrhythmias Anticoagulation strategies must be carefully individualized with meticulous monitoring during pregnancy
39 Summary The number of adults living with congenital heart disease is growing Surgical strategies have evolved over time and longterm complications depend on associated lesions and surgical era of repair Many women with CHD tolerate the hemodynamic changes of pregnancy. However, morbidity is common, particularly with high-risk conditions
40 Resources Stout K et al ACC/AHA Guideline for the Management of Adults With Congenital Heart Disease. Soon to be published 2018 Valente AM, Landzberg MJ. Adult Congenital Heart Disease. Chapter 264. Harrison s Textbook of Internal Medicine, ed. Loscalzo J. McGraw-Hill, Regitz-Zagrosek V et al. ESC Guidelines on the management of cardiovascular diseases during pregnancy The Task Force on the Management of Cardiovascular Diseases during Pregnancy of the European Society of Cardiology (ESC). European Heart Journal, (24),
41 Thank You! Boston Adult Congenital Heart & Pulmonary Hypertension Program
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