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Cardiomyopathy in Children And Adolescents: What Begins in Childhood… James W. Wiggins, Jr. MD FAAP, FACC St. Vincent Healthcare Pediatric Cardiology,

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Presentation on theme: "Cardiomyopathy in Children And Adolescents: What Begins in Childhood… James W. Wiggins, Jr. MD FAAP, FACC St. Vincent Healthcare Pediatric Cardiology,"— Presentation transcript:

1 Cardiomyopathy in Children And Adolescents: What Begins in Childhood… James W. Wiggins, Jr. MD FAAP, FACC St. Vincent Healthcare Pediatric Cardiology, Billings, MT Clinical Professor of Pediatrics University of Colorado School of Medicine

2 Cardiomyopathy in Children and Adolescents  Goals –Incidence of cardiomyopathy in children –Understand with wide spectrum of etiologies of cardiomyopathy in children and adolescents –Diagnostic modalities –Genetics of cardiomyopathy and impact on the family –Current management of myocardial diseases

3 Incidence of cardiomyopathy in children  Incidence 1.13-1.24/100,000  40% of children ultimately die of their disease (unaltered over decades)  Highest incidence is in the first year of life, (greater than 8 to 12 times that at any other time in life)  Second peak occurs in adolescence  Higher incidences in Black and Hispanic children. (Greater in indigenous versus non-indigenous Australian populations)  Incidence greater in males than females secondary to muscular dystrophies.  9 to 20 percent of cardiomyopathies are familial  4% presenting symptom was sudden death

4 Classification of Cardiomyopathy  Dilated Cardiomyopathy  Hypertrophic Cardiomyopathy  Restrictive Cardiomyopathy  Right Ventricular Cardiomyopathy  Non-compaction of the Ventricular Myocardium  Some forms may change from one type to another with time (i.e., hypertrophic to dilated)

5 Dilated Cardiomyopathy  Etiologies –Infective myocarditis –Endocardial fibroelastosis –Dystrophinopathies –X-linked dilated cardiomyopathy –Doxorubicin cardiomyopathy –HIV associated cardiac disease –Iron overload cardiomyopathy –Thalassemia –Inborn errors of metabolism

6 Hypertrophic Cardiomyopathy  Familial  Sarcomeric  Maternally inherited  Beckwith-Wiedemann syndrome  Cranio-facial-cutaneous syndrome  Costello syndrome  Friedreich's ataxia  Lentiginosis (LEOPARD syndrome)  Noonan syndrome

7 Hypertrophic Cardiomyopathy Secondary forms  Anabolic steroid therapy and abuse  Infant of a diabetic mother  Pre and postnatal steroid therapy  Metabolic disorders  Carnatine deficiency  Fucosidosis type 1  Glycogenoses (types 2, 3 and 9: Pompe disease, Forbes disease, phosphoylase kinase deficiency)  Glycolipid lipidosis (Fabry disease)  Glycosylation disorders  I-cell disease  Lipodystrophy, total  Lysosomal disorders  Mannosidosis  Mitchondrial disorders (multiple forms)  Mucopolysaccharidoses (types 1, 2 and 5; Hurler syndrome, Hunter Syndrome, Scheie syndrome)  Selenium deficiency

8 Restrictive cardiomyopathy  Primary restrictive cardiomyopathy  Endocardial fibrosis  Hypereosinophilic syndrome  Familial  Idiopathic  Interstitial  Amyloidosis  Anthracycline cardiomyopathy  Radiation toxicity  Scleroderma  Storage diseases  Fabry disease  Gaucher disease  Glycogenosis  Hemochromatosis  Hurler disease  Noninfiltrative  Carcinoid heart disease  Noncompaction of the myocardium  Pseudoxanthoma elasticum

9 Right Ventricular Cardiomyopathies  Uhl anomaly  Arrhythmogenic right ventricular dysplasia

10 Uhl Anomaly Figure 1. Noninvasive investigations. A, ECG showing type I atrioventricular block and complete right bundle-branch block. B, Echocardiography (4-chamber apical view) showing leftward curveted IVS with normal systolic thickening. Its right side is nontrabeculated, in contrast to the trabeculated LV apex. Segmental and global LV systolic functions were preserved. C, Biventricular radionuclide angiography at equilibrium in a left anterior oblique projection (3-dimensional apical view). Note the bean-like shape of the LV with otherwise normal kinetics. ED indicates end diastole; ES, end systole. He´bert et al Fortuitous Discovery of Partial Uhl Anomaly e427 Downloaded from Circulation

11 Imaging ARVD Figure. A, ECG with typical signs for ARVC; negative T waves and Epsilon waves in the precordial leads (arrow). B, Chest x-ray after ICD implantation. Both the atrial and ventricular leads are visible. C through E, Signal attenuation in RV septum on MDCT (C), increased signal intensity on delayed enhancement images (D), and decreased signal intensity on steady-state free precession images (E).

12 Noncompaction of the ventricular myocardium  Seen both with and without associated congenital heart defects.  Also described in conjunction with –Fabry disease –Barth syndrome –Neuromuscular disorders –Mitochondrial disorders –Trisomy 13

13 Non-compaction of the left ventricular myocardium

14 Non-genetic causes of cardiomyopathy  Atherosclerotic heart disease  Kawasaki disease  Hypertension  Dysrhythmia  Congenital heart defects  Chronic alteration of circulatory volume  Major cardiac surgery  Obesity  Pulmonary parenchyma; or vascular disease  Toxin or drug  Radiation  Connective tissue diseases  Endocrine disease  Nutritional deficiency  Granulomatous disease  Malignancy

15 Diagnosis  History –Family history of cardiomyopathy –Presentation with congestive heart failure –Sudden cardiac arrest –Syncope with exercise –Neuromuscular disease –Congenital malformations –Metabolic disorder  Hypoglycemia, metabolic acidosis, hyperammonemia  Hypotonia  Mucopolysaccharidosis

16 Inborn Errors of Metabolism Infiltrative (storage disease) Disorders of glycogen metabolism Disorders of mucopolysaccharide degradation  Disorders of glycosphingolipid degradation  Disorders of glycoceramide degradation  Disorders of phytanic acid oxidation  Combined degradations disorders  Disorders of glycoprotein metabolism  Disorder of oxalic acid metabolism

17 Inborn errors of metabolism  Disorders of energy production –Disorders of pyruvate metabolism –Disorders of oxidative phosphorylation –Combined respiratory chain deficiencies  Mitochondrial disorders  Mitochondrial DNA deletions and deficiencies  Barth syndrome  Sengers syndrome –Disorders of fatty acid metabolism  Carnitine deficiency (primary, systemic, muscle)  Etc.  Toxic intermediary metabolites –Proprionic acidemia –Methylmalonic acidemia –Malonic acidemia –Beta-ketothiolase deficiency –Mevalonic acidemia –Tyrosinemia

18 Genetics and Cardiomyopathy  Malformation Syndromes  Neuromuscular disorders  Isolated Cardiomyopathy  Autosomal Dominant inheritance  X-linked inheritance  Autosomal recessive inheritance  Maternal mitochondrial inheritance

19 Case Report  16 year old male has sudden cardiac arrest while playing soccer. Resuscitation results in return of circulation but sustains neurologic sequelae. Diagnosis ARVD, receives AICD.  Echocardiography of immediate family members detects ARVD in the patient’s father and one brother. Younger brother with ARVD, refuses AICD later arrests while playing soccer with friends. Resuscitation successfully, gets AICD.  Family history of uncle with AICD for Arrhythmia 4 years previously. No attempts made at family history or screening.  Genetic testing becomes available 2 years ago and 2 younger siblings with negative echoes screened. One positive with no evidence of cardiomyopathy at this time.

20 Genetics and Cardiomyopathy  Many cardiomyopathies have well known patterns of inheritance and now have genetic testing available to identify family members both with and without risk of potentially life threatening disease.  Adults presenting with cardiomyopathy for the first time should have detailed family history and possible genetic testing.  In the absence of genetic testing other family members should be screened.

21 Case Report  Follow a 9 year-old female patient since fetal life diagnosed with dextrocardia, fetal hydrops VSD, coarctation of the aorta, left ventricular diverticulum (resolves by birth). Has had VSD, coarctation repair complicated by complete heart block.  Mother diagnosed with hypertrophic cardiomyopathy 1 year ago.  Screened brother: asymptomatic hypertrophic cardiomyopathy.

22 Premortem Evaluation  Diagnosis in a moribund patient obtain studies to determine etiology and/or genetic or metabolic cause of the disease.  Includes:  Blood –Blood-Glucose, electrolytes, bicarbonate, ABG, BUN, Creatinine, Lactate and pyruvate, CBC with WBC, Creatine kinase, Cholesterol and Triglycerides, Alkaline aminotransferase, aspartate aminotransferase, bilirubin, PT/PTT, albumin, uric acid

23 Diagnostic Studies  History  ECG  Echocardiography  Cardiac Catheterization –Hemodynamics –Coronary angiography –Endomyocardial biopsy –Skeletal muscle biopsy  Metabolic studies  Genetic testing

24 Premortem Laboratory  Urine (or vitreous) –Urinalysis, organic acids, quantitative amino acids, acylglycines, mucopolysaccarides and oligosaccarides by thin layer chromatography  Additional studies –ECG, Chest X-ray, Echocardiography –Ophthalmologic exam –Skeletal x-ray survey –Photographs

25 Additional Studies  Tissue –Heart –Skeletal muscle –Liver –Kidney Brain –Skin (Flash frozen before or soon after death)

26 Medical Management  Depending on etiology and type of cardiomyopathy  Hypertrophic obstructive cardiomyopathy –Symptomatic  Calcium channel blockers  Asynchronous ventricular pacing  Surgical myectomy  Septal ablation  Antiarrhythmics  AICD  Transplantation  Hypertrophic cardiomyopathy (non-obstructive) –Beta blockers –AICD –Transplantation  Metabolic myopathy –Depends on etiology and any available treatment –L-Carnitine for carnitine deficiency

27 Conclusion  The diagnosis of cardiomyopathy in childhood involves an extensive evaluation for possible etiology.  Familial disease is common and even asymptomatic family members should be screened.  Genetic evaluation should be pursued where there is the possibility of inheritable disease and availability of genetic testing.  Consider metabolic disease in the infant with cardiomyopathy.  With better understanding of the molecular causes of cardiomyopathy, future medical management may allow for greater longevity and quality of life in this population.

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