Adult Congenital Heart Disease Lenka Kubkova Masaryk University and University Hospital in Brno, 2020 Purpose of the Lecture to remember you and explain:  basics from blood circulation and hemodynaemics  basics from anatomy and pathophysiology of the most frequent CHDs - CHD = Congenital Heart Disease to demonstrate:  how does adult patient with CHD look like  what are his symptoms  how can we investigate and treat him  what could be different between „normal“ cardiology patient and that one with CHD Systemic and Pulmonary Circulation Fetal Circulation Normal Blood Pressures 120/80 120/12 12/4 30/8 30/8 8/0 * mmHg Basic Terminology in CHD  situs solitus  situs viscerum inversus  situs ambiguus = syndrome of visceral heterotaxis dextroisomerism (Ivermark sy) levoisomerism  concordance / discordance  restrictive / non-restrictive defect  erythrocytosis Definition of Congenital Heart Disease Congenital Heart Disease (CHD) = morfological disorder of heart / great vessels that has been present since birth Nomenclature and Classification  complexed and complicated (heterogenity)  classification according to: anatomy (most common; description of CHD) physiology outcome for the patients  35% of all CHD are critical disorders requiring immediate intervention Most frequent CHD - Review CHD type % adult CHD % children CHD Atrial septal defect 25-30 9 Ventricular septal defect 21 42 Aortic coarctation 10 5 Tetralogy of Fallot 10 3 Pulmonary stenosis 6-10 6 Patent arterial duct 5 5 Transposition of great arteries 5 5 Atrioventricular septal defect 4 4 Ebstein´s anomaly of TV 2 0,4 Pulmonary atresia 1 2 Tricuspid atresia 0,7 0,8 *Aortic stenosis 2-4% com.pop. 8 Most frequent CHD  adults ASD II 25-30% VSD 21%  children VSD 42% ASD II 9% Lifetime of Diagnosis of CHD  some defects need not be presented / detected in early life (Portion of all CHD)  60% in babies < 1 year old  30% in children  10% in adults Epidemiology of CHD  live birth incidence approx. 6-10 cases per 1000 (1 in every 145 babies born)  advances in diagnosis and management of pts. with CHD over the latter part of the 20th century  80-85% of all children with CHD survive to adulthood  prevalence in adult population 280 per 100 000 (CR: 10 000 children and 25 000 adults with CHD)  there are now more adults than children with CHD Findings in Patients with CHD  physical appearence (syndromes, clubbed fingers, scars)  cyanosis  murmurs  hypoxemia  hypertension  pulmonary hypertension  erythrocytosis (hyperviscosity, sideropenia)  hyperuricemia, gout  ecg changes, chest X-ray changes... Scars after Cardiothoracic Surgery Clubbed Fingers Cyanosis Hypertension (Systemic Arterial)  BP ≥ 140/90  both arms measurement  BP difference between arms and legs Pulmonary Hypertension syst. > 35 mmHg mean > 25 mmHg RV hypertrophy RV dilatation RV failure congestion increased blood pressure in pulmonary circulation change of shunt direction to R-L Eisenmenger Syndrome Pulmonary Hypertension R-L shunts hypoxemia, cyanosis Pulmonary Hypertension ECHO CATHETER Arrhytmias in Patients with CHD Etiology of CHD  non-genetic illness in the mother (rubella, diabetes, lupus) mother drug ingestion (anti-epileptic, alcohol, lithium)  genetic isolated heart / GV disorder disorder associated with genetic syndrome *The crucial period for fetal cardiac development occurs btw. weeks 6 and 12. Down syndrome (Trisomy 21) atrioventricular septal defects tetralogy of Fallot Turner syndrome coarctation, bicuspid aortic valve DiGeorge syndrome (CATCH 22) tetralogy of Fallot, right sided aortic arch, pulmonary atresia, aortic-to-pulmonary collaterals Holt-Oram syndrome septation defects (ASD, VSD) Marfan Syndrome aortic dilation, aneurysm, dissection; heart valve disorders CHD Anatomy and Pathophysiology  Septation Defects (ASD, VSD)  Patent Arterial Duct  Aortic Coarctation  Tetralogy of Fallot  Transposition of Great Arteries Atrial Septal Defect (ASD) 1 – Secundum type 2 – Primum type 3 – Sinus venosus superior type 4 – Sinus venosus inferior type 5 – Coronary sinus type ASD Pathophysiology left to right IA shunt volume overload of right atrium and ventricle pulmonary hypercirculation RV dilatation PH, bidirectional shunt Patent Foramen Ovale (PFO)  25-30% of general population  not considered as CHD ASD x PFO CHD CHD paradoxical embolism risk Amplatzer Ocluder - PFO/ASD II Closure Ventricular Septal Defect (VSD) 1 - Outflow (Subaortic) 2 - Perimembraneous 3 - Inflow 4 - Muscular VSD Pathophysiology left to right IV shunt pulmonary hypercirculation volume overload of left atrium and left ventricle PH RV hypertrophy right to left shunt Eisenmenger syndrome VSD Closure Patent Ductus Arteriosus (PDA) L-R shunt PH RV hypertrophy R-L shunt Eisenmenger sy PDA Closure Coarctation of the Aorta hypertension in precoarctation area LV hypertrophy LV dysfunction ascend. Ao dilatation aortic dissection/rupture *85% assoc. with bicuspid Ao Aortic Dissection Aortic Aneurysm Tetralogy of Fallot (TOF)  ventricular septal defect  overriding aorta  pulmonary stenosis  RV hypertrophy  (atrial septal defect /PFO) (Pentalogy of Fallot) TOF Pathophysiology Pu stenosis RV hypertrophy R-L shunt cyanosis / „pink Fallot“ hypoxemia RV failure PA patch VS patch „normal“ circulation Transposition of the Great Arteries (TGA)  2 isolated circulations  oxygenated blood in isolated pulmonary circulation  deoxygenated blood in isolated systemic circulation  impossible to survive without correction d-TGA TGA Repair palliative septostomy arterial switch Congenitally Corrected TGA (CCTGA)  „normal“ circulation  RV in systemic circulation  RV dysfunction/failure Ebstein´s Anomaly of the Tricuspid Valve Pulmonary Stenosis valvar infundibular Surgical Repair of CHD  corrective (patch...)  palliative (connections...) Fontan Circulation CHD non-included Congenital Disorders Bicuspid Aortic Valve 1-2% common population Patent Foramen Ovale (PFO) 25-30% common population Persistent Left Upper Vena Cava 0,5% Cardiomyopathies Bicuspid Aortic Valve (BAO) Patent Foramen Ovale (PFO) Persistent Left Upper Vena Cava Adult Patient with CHD  symptoms  investigation  difference between patient with CHD and „normal“ cardiology patient  treatment and follow up Symptoms in CHD (most common)  dyspnea  palpitations  syncope  chest pain  hemoptysis  symptoms of hyperviscosity syndrome  low stress tolerance  fatigue, exhaustion Hyperviscosity Syndrome chronic hypoxemia erythrocytosis stiff blood headache, vertigo, bleeding, visual disturbances, seizure, chest pain, dyspnea, difficulty walking, coma Investigation in Patients with CHD  history, physical exam  ECG, BP, blood oxygen saturation  blood tests  urine tests  chest X-ray  echocardiography  CT scan, MRI  stress testing (spiroergometry, 6-MWT)  QOL questionnaire Problems associated with CHD in Adults  rezidual findings  non-detected disorders in early life  late indication to operation  arrhythmias  infective endocarditis  anticoagulation  pregnancy and labour in women with CHD  social and work problems  depression Treatment and Follow-up  surgical repair of disorder  reoperation  anticoagulation therapy/bleeding complications  infective endocarditis prophylaxis/treatment  pharmacology treatment of arrhytmias, PH, HF  non-pharmacology treatment: PM, ICD, CRT  oxygen therapy  heart/lung transplant  psychotherapy What can the patient with CHD die of?  heart failure  malignant arrhytmias  aortic aneurysm rupture / dissection  infective endocarditis  cardioembolism (stroke) ...but we are here to help every patient with CHD living a full life!