Guideline pediatric congenital heart disease.
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1 Guideline pediatric congenital heart disease
2 Guideline primary cardiomyopathies Content Definition of primary cardiomyopathies Dilated cardiomyopathy Hypertrophic cardiomyopathy Genetic testing and prevention
3 Definition of cardiomyopathies Cardiomyopathies are defined as diseases of the myocardium associated with cardiac dysfunction (WHO 1995): They are classified as dilated cardiomyopathy hypertrophic cardiomyopathy restrictive cardiomyopathy arrhythmogenic right ventricular cardiomyopathy Richardson P, McKenna W, Bristow M et al. Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies. Circulation 1996; 93:
4 Classification of primary cardiomyopathies AHA statement 2006
5 Secondary cardiomyopathies
6 6 Incidence of cardiomyopathies in patients <19 yrs.: 1.13 on children (8.34 on in infants) dilative hypertrophic restrictive and other
7 dilative cardiomyopathy definition and clinical symptoms Dilation of left and later right ventricle severe systolic dysfunction Congestive heart failure Cold sweating Dyspnoea Lung odema Peripheral cyanosis Hepatomegaly Failure to thrive Clinical differential diagnosis: Pneumonia Sepsis
8 dilative cardiomyopathy primary diagnostics Echocardiography Left venticular diameter/function Mitral regurgitation Coronary morphology Pulmonary artery pressure (tricuspid/pulmonary regurgitation) ECG (not specific) left heart strain Arrhythmias Thoracic X-ray (not specific) Cardiomegaly Pulmonary congestion Cardiac catheterization (necessary after primary stabilization) ALCAPA Pulmonary artery pressure Myocardial biopsy DD: myocarditis Molecular pathology/ immunohistochemistry Cardiac MRI DD: myocarditis (late enhancement) Biomarkers NT-pro/BNP Genetic testing Not recommended in isolated CMP Meaningful in patients with combination of AV-block or myopathy
9 9 dilative cardiomyopathy - possible causes Hereditary/gentically caused disease Post-myocarditis Metabolic disease Other secondary cardiomyopathy Coronary artery disease (ALCAPA) Tachycardia induced cardiomyopathy Goodwin, Muntoni, Muscle Nerve 2005;32:577-88
10 dilative cardiomyopathy - differential diagnoses Nikolaus A. Haas; Ulrich Kleideiter - Kinderkardiologie: Klinik und Praxis der Herzerkrankungen bei Kindern, Jugendlichen und jungen Erwachsenen, Thieme 2011
11 dilative cardiomyopathy - differential diagnoses Nikolaus A. Haas; Ulrich Kleideiter - Kinderkardiologie: Klinik und Praxis der Herzerkrankungen bei Kindern, Jugendlichen und jungen Erwachsenen, Thieme 2011
12 dilative cardiomyopathy - therapeutic options Drug therapie for congestive heart failure (look at guideline) ACE-inhibitor ß-blocker Aldosteron-antagonists Diuretics Anti-coagulants Anti-arrhythmics (guideline) ICD-implantation (guideline) Cardiac resynchronisation therapy Cardiac-assist-system Heart transplantation (HTX) Short axis echocardiography of a 5 month old male
13 dilative cardiomyopathy follow-up examinations Echocardiography Left ventricle Mitral valve Pulmonary artery hypertension (PAH) Biomarkers (1x/y) Holter-ECG (every 2 yrs.) Repeated catheterizations if signs of PAH are existent Spiroergometry (every 3 yrs.) Involvement of HTX-center
14 hypertrophic cardiomyopathy definition and clinical symptoms Asymmetric hypertrophy of the left ventricle +/- obstruction of left ventricular outflow tract Disease of the sacomer 90% hereditary disease (autosomal dominant) Systolic heart murmur palpitations Fatigue Dyspnoea (on exertion) Syncope (on exertion)
15 hypertrophic cardiomyopathy primary diagnostics Echocardiography Left ventricular measurements Thickness of the septum and different wall segments Distribution of hypertrophy (asymmetric/concentric) Assessment of left ventricular apex Systolic anterior movement of mitral valve (SAM phenomenon) Thickness of right ventricular wall PW-/CW-Doppler: left ventricular obstruction (subaortal, mid-ventricular, apical) Stress echocardiography Recommended in symptomatic patients with LVOTO-rest-gradient < 30 mmhg Valsalva s manoeuvre
16 hypertrophic cardiomyopathy primary diagnostics Cardiac MRI Recommended in patients with insufficient echo-window Verification of fibrosis (late gadolinium enhancement) ECG (left ventricular hypertrophy, repolarisation patterns) Holter-ECG, Ergometry (arrhythmias) Thoracic X-ray (not necessary for primary diagnostics) Cardiac catherization LV-Angiography/coronary imaging recommended before surgery in patients with LVOTO Endomyocardial biopsy uncertain phenotype/etiology Elimination of secondary hypertrophy in cases of uncertain concentric myocardial hypertrophy Genetic testing Limited indication in patients <18 yrs. of age Only for clarification of differential diagnoses in uncertain phenotypes 17yrs. old male, asymmetric HCM
17 hypertrophic cardiomyopathy differential diagnoses Differential diagnoses Storage diseases (e.g. Pompe disease) Genetic disorders (e.g. Noonan diseases) neuromuscular diseases PRKAG2-syndrom (cardiac glycogenosis associated with Wolff-Parkinson-White Syndrom) Danon disease (X-chromosomal inherited lysosomal storage disease) SYMPTOMS IN CHILDREN with Noonan disease
18 Hypertrophic cardiomyopathy (HCM) - risk factors Main risk factors for suddencardiac death (according to adult patients) Resuitation for cardiac arrest or non-sustained ventricular tachycardia Sudden cardiac death in familiy history History of non-sustained ventricular tachycardia (>3 Schläge < 30 sec, HF >120/min.) Profound thickness of the septum >30 mm (controversially discussed) Insufficient rise of systolic blood pressure under exertion (syst. 20 mmhg) Rapid progression of the disease 1. Maron BJ, McKenna WJ, Danielson GK et al. American College of Cardiology/European Society of Cardiology Clinical Expert Consensus Document on Hypertrophic Cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines. European heart journal 2003; 24: Monserrat L, Elliott PM, Gimeno JR, Sharma S, Penas-Lado M and McKenna WJ. Non-sustained ventricular tachycardia in hypertrophic cardiomyopathy: an independent marker of sudden death risk in young patients. Journal of the American College of Cardiology 2003; 42:
19 hypertrophic cardiomyopathy follow-up Follow-up-visits At least annually (ECG, echocardiography) High risk patients LVOT-peak echo-gradient >30 mmhg moderate or profound LV-wall hypertrophy rapid progress of the disease unfavorable patient or family history Holter-ECG and ergometry annually Maron BJ, McKenna WJ, Danielson GK et al. American College of Cardiology/European Society of Cardiology Clinical Expert Consensus Document on Hypertrophic Cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines. European heart journal 2003; 24:
20 Hypertrophic cardiomyopathy (HCM) sports and primary prevention No competitive sport *1 No isometric muscular exertion *1 For detailed recommendations look at the current guideline of the European Society of Cardiology *2 Early detection and medical screenig before athletic activities HCM, ARVC and ion-channel disorders are mean reasons for sudden cardiac death in athlets <35 yrs. of age Preliminary medical examination before athletic sports should include patients medical and family history, physical examination, ECG Guideline committee recommends a medical screening examination (including ECG) for all adolescents at the age of yrs. and in the Jugendarbeitsschutzuntersuchung (strong agreement of the committee) 1. Maron BJ, Chaitman BR, Ackerman MJ et al. Recommendations for physical activity and recreational sports participation for young patients with genetic cardiovascular diseases. Circulation 2004; 109: Pelliccia A, Corrado D, Bjornstad HH et al. Recommendations for participation in competitive sport and leisure-time physical activity in individuals with cardiomyopathies, myocarditis and pericarditis. European journal of cardiovascular prevention and rehabilitation : official journal of the European Society of Cardiology, Working Groups on Epidemiology & Prevention and Cardiac Rehabilitation and Exercise Physiology 2006; 13:
21 Hypertrophic cardiomyopathy (HCM) therapeutic options lipophilic ß-blockers (e.g. Propranolol, Metoprolol or Bisoprolol): recommended in symptomatic patients CA-antagonists (e.g. Verapamil): increased risk for deterioration of congestive heart failure/death in patients with severe hypertrophy; contraindication for use in infants Amiodaron: protection against sudden cardiac death not shown; side effects of permanent application are more serious in children/adolescents ICD-Implantation: only reliable primary and secondary prevention for sudden cardiac death (look at guideline) Septal myectomy to treat LVOTO Transcatheter intervention in individual cases/controversialy discussed Rarely heart transplantation 1. Ostman-Smith I. Hypertrophic cardiomyopathy in childhood and adolescence - strategies to prevent sudden death. Fundamental & clinical pharmacology 2010; 24: Ostman-Smith I, Wettrell G and Riesenfeld T. A cohort study of childhood hypertrophic cardiomyopathy - Improved survival following high-dose beta-adrenoceptor antagonist treatment. Journal of the American College of Cardiology 1999; 34: Maron BJ, Yacoub M and Dearani JA. Controversies in cardiovascular medicine. Benefits of surgery in obstructive hypertrophic cardiomyopathy: bring septal myectomy back for European patients. European heart journal 2011; 32:
22 Primary cardiomyopathies family members and prevention Family history (3 generations) Medical examination of first-degree relatives (incl. children) Conspicuous medical finding/carrier of mutation: annually controls Time interval for controls in inconspicuous siblings during childhood: Every 3 yrs. in hypertrophic cardiomyopathy annually from the age of 12. yrs. 1. Beudt U, Heidemann S, Henn W et al. S2-Leitlinie Humangenetische Diagnostik und genetische Beratung. Medgen 2011; 23: Ackerman MJ, Priori SG, Willems S et al. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies. Europace 2011; 13:
23 Primary cardiomyopathies family members and prevention Genetic testing Counseling (institut for human genetics) recommended for patients and families Children and adolscents show larger number of Inherited/gentically caused cardiomyopathies Mitochondrial or metabolically caused cardiomyopathies Chromosomal defects, dysmorphic syndroms Familiy-screening and -management (adjustment of risk in asymptomatic carriers of mutation) Predictive genetic testing in children/adolescents is rated very controversially Predictive genetic testing is legal exclusively after qualified genetic counseling 1. Beudt U, Heidemann S, Henn W et al. S2-Leitlinie Humangenetische Diagnostik und genetische Beratung. Medgen 2011; 23: Ackerman MJ, Priori SG, Willems S et al. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies. Europace 2011; 13:
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