Transcript CARDIOMYOPATHY THE NEONATOLOGIST PERSPECTIVE

CARDIOMYOPATHY
& THE NEWBORN
N. Felicia Ochei, M.D.
Pediatrics-PL 2
November 2002
Introduction
Topics
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Peripartum Cardiomyopathy: Implications to the fetal
well-being
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Review of Cardiomyopathy in the Neonatal period
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Fetal Cardiomyopathy: A Journal article Review
Peripartum Cardiomyopathy
Definition
Dilated cardiomyopathy of uncertain origin characterized by:
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Cardiac failure in the last month of pregnancy or within 5 months after delivery
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Absence of demonstrable cause for the cardiac failure
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Absence of demonstrable heart disease before the last month of pregnancy
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Documented systolic dysfunction*
Peripartum Cardiomyopathy
Incidence
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U.S.
1:1300 to 15,000 live births
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Japan
1:6000 live births
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South Africa
1:1000
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Nigeria
High incidence: ? related to tradition of
ingestion dried lake salt
Age
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Wide range probably more common > 30 years*
Peripartum Cardiomyopathy
Medical Rx
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Inotropics
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Loop diuretics
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Beta blockers
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Anticoagulation
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Spontaneous vaginal delivery at term is
reasonable unless mother is
decompensating
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Painless and effortless labor/delivery
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Inhaled analgesia preferred (epidural/spinal
contraindicated for 24hrs after use of
LMWH)
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Forceps/vacuum assisted delivery is the
rule
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Vaginal delivery preferred as C/S carries a
higher risk of PE and and endometritis
(75%)
Digioxin
Dobutamine when indicated
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Obstetric mgt
Heparin(unfractionated, LMWH)
Warfarin (post partum)
After load reduction
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Hydralazine
Nitrates
Peripartum Cardiomyopathy
Fetal Implications
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Fetal distress from maternal hypoxia
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Placental hypo-perfusion
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Poor cardiac output
Excessive use of diuretics
Hypotension from afterload reducers
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Complications of instrumental delivery
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Complications of intra partum anesthesia (choice & quantity)
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Risks of Preterm delivery
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Adverse effects of medications (e.g. Digoxin, Beta blockers, LMWH)
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Severe maternal decompensation
Safety for use in pregnancy not established
Psychosocial issues
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Infant maternal bonding
Peripartum Cardiomyopathy
The pediatrician’s Role
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Liaison with OB
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Careful maternal history
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Anticipate problems from
 Preterm delivery
 Maternal Medications
 Fetal distress
 Instrumental delivery
Neonatal Cardiomyopathy
Neonatal Cardiomyopathy
Definitions
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Neonate: Birth to 28 days of life
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Neonatal Cardiomyopathy: Disease of the neonate in which the myocardium is affected
without primary abnormalities of the valves, great vessels or septum
Epidemiology
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Difficult to define: Few studies, rare disease entities
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Estimates: 1: 10,000 live births (Nelson)
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Constitutes about 1% of childhood cardiac disease
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10% of all pediatric cardiac deaths
Neonatal Cardiomyopathy:
Pathophysiologic Classification
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WHO (1980)
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Guidance for therapy and prognosis
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Hypertrophic Cardiomyopathy
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Dilated Cardiomyopathy
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Insult to the myocardium
tissue necrosis/interstitial fibrosis
impaired systolic
contractility/diastolic compliance
ventricular dilation to maintain
function
Left +/- right sides
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Restrictive Cardiomyopathy
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Myocyte hypertrophy & disarray
Increased mass & thickness
Increased mass/volume ratio
Poor diastolic chamber compliance
Left ventricle
High systolic pressure gradient
Rare, very small L ventricular cavity
Impaired diastolic function initially
Unclassified cardiomyopathy
Neonatal Cardiomyopathy:
Etiologic classification
DILATED
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Perinatal insult/ maladjustment
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Asphyxia
Persistent fetal circulation
HYPERTROPHIC
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Familial
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Maternal disease
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Congenital anomalies
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Anomalous origin of Left coronary
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Inborn errors of metabolism
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Glycogen storage dses (Pompe’s dse)
Mucopolysaccharidosis
Disorders of fatty acid metabolism
(Carnitine deficiency)
Amino & organic acidiurias
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Maternal connective Tissue dse
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SLE
Dexamathasone (BPD)( case report)
ECMO (case report)
Adriamycin
Chloramphenicol
Malformation syndromes
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Infectious
endotoxins, exotoxicins
Drugs /Iatrogenic
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Diabetes
Myocarditis
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Idiopathic Hypertrophic
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Beckwith wiedemann
Noonan
Leopard
Downs (case report)
Neonatal Cardiomyopathy:
Clinical Features
History
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Non specific
Pallor, irritability
Tachypnea
Diaphoresis
Fatigue esp with feeds
Poor wt gain
EKG
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CXR
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PE
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Signs of CCF:
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Tachypnea, tachycardia, narrow
pulse p
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Decreased peripheral pulse,
hepatomegaly, wheezing
+/- cyanosis
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Murmur of mitral insufficiency
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+/- left ventricular outflow
obstruction(hypertrophic)
Features of underlying etiology
Flat T wave
ST depression
Generalized low voltages
Characteristic findings for the
underlying abnormality
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Cardiomegaly
May be normal in fulminant cases
Pulmonary edema
Pericardial effusion may be present
(Water-bottle configuration)
ECHO
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Diagnostic
Ventricular dilatation/dyskinesia
Ventricular outflow obstruction
Neonatal Cardiomyopathy:
Asphyxia induced
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Hypoxia leads to myocardial ischemia/dilation
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Term infant with delivery complicated by hypoxic stress
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Apgars usually <3 @ 1
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Metabolic acidosis/ multi system ischemia
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Severe cases: Hypotension/shock
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Murmur of mitral/tricuspid regurg may be present
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EKG: Diffuse ST -T changes, R atrial hypertrophy
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Prognosis: Good without cardiogenic shock
Neonatal Cardiomyopathy:
From Maternal Diabetes
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Asymmetric hypertrophic cardiomyopathy
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Mechanism not clearly understood ? Hyperinsulinemia
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Prevalence unrelated to diabetic control of mother
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Puffy, Plethoric infant, with signs and symptoms of CCF
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SEM common and related to degree of outflow obstruction
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RX:Usually symptomatic
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Prognosis: Usually good, resolves in months
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Digitalis and other inotropics agents are contraindicated
except in very severe depression of myocardial contractility
Neonatal Cardiomyopathy:
Carnitine deficiency
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Autosomal recessive inheritance
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Plasma memb carnitine transport defect: Impairs fatty acid oxidation
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Metabolic acidosis, intractable hypoglycemia, severe non-immune hydrops, +/-muscle
weakness
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EKG: Giant T waves(pathognomonic)
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Subnormal carnitine level 1-2 %, heterozygous parents have 50 % levels
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Symptomatic Rx for the cardiac failure gives minimal benefits
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Definitive Rx: Oral carnitine supplements
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Prognosis: Usually good with early diagnosis and Rx
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Risk of growth and mental retardation
Neonatal Cardiomyopathy:
Myocarditis
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Any infectious agent, commonly Coxsackie B, ECHO viruses, herpes, HIV, Rubella
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Bacterial/fungal infections
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Vertical/horizontal spread
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Pathology: multicellular infiltrates
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Usually first 10 days of life
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Features of acute infective process
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Involvement of other organs like CNS esp Coxsackie B
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Gamma globulins beneficial
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Rx underlying infection: Interferon, Ribavirin
Neonatal Cardiomyopathy:
Pompe’s Disease
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Generalized form of glycogen storage dse (type II)
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Lysosomal alpha- glucosidase deficiency
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Autosomal recessive
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Infiltrative cardiomyopathy
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Skeletal muscular hypotonia: Protruding tongue, feeble cry, poor feeding
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Hyporeflexia
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Diagnosis: Measurement of enzyme activity or DNA analysis
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EKG: (characteristic)
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Short PR interval
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prominent P waves
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massive QRS voltage
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Uniformly fatal
Neonatal Cardiomyopathy:
1diopathic Familial
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Multi gene disorder
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Autosomal with variable penetrance
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Ventricular dysrhthmias/ Sudden death
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Normal Echo @ birth does not rule out disease in later life
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Avoid diuretics & inotropics
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Ventricular septal myomectomy
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Cardiac transplantation
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Those presenting @ birth have worse prognosis
Neonatal Cardiomyopathy:
Endocardial Fibroelastosis
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No established cause
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Also called elastic tissue hyperplasia
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Pathology: White opaque fibroblastic thickening of the endocardium
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1:6000 (1960); 1:70,000 (1980)
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Infants < 6 months usually
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Severe CCF/ rhythm disturbances
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Failure to thrive
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CXR : Massive cardiomegaly
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EKG: Low voltage as in severe myocarditis
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ECHO: Bright -appearing endocardial surface
Neonatal Cardiomyopathy:
Anomalous origin of the left coronary artery
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From the pulmonary artery
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Should be ruled out in all cases of cardiomyopathy
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EKG: anterolateral infarct
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Surgical correction usually successful
Neonatal Cardiomyopathy;
Diagnostic Evaluation
Step 1: Initial Evaluation
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EKG
CXR
ECHO
Step 2: Screening Evaluation
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CBC
CMP
Enzymes:LDH, SGOT, SGPT, CPK,
aldolase
ABG
Fractionated serum carnitine
Urine organic & amino acids
Urine muco/oligosacharides
Skeletal survey
Viral studies: Stool, NPW, urine, blood
Step 3: Specific Testing
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Cardiac catheterization
Myocardial biopsy
Holter monitoring
Carnitine levels (skeletal, cardiac tissue,
urine)
Serum ketone bodies, ammonia,
pyruvate, lactate
Fibroblast studies
Chromosomes
Neonatal Cardiomyopathy:
Management
Supportive Therapy
Specific Therapy
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Non specific therapy for heart
failure, to improve survival &
alleviate symptoms
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ACE inhibitors (captopril, enalpril)
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Reduce afterload
Improve cardiac ejection
Reduce catecholamine drive
prolonging cardiac survival
Careful titration necessary
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Depends on the underlying disease
condition
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Most have no effective Rx
Carnitine supplements
Surgery
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B blockers (metoprolol, carvedilol)
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Digoxin
Diuretics
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Correction of aberrant vessels
Implanable defibrillators
Partial left venticulectomy
Cardiac transplant
Neonatal Cardiomyopathy:
Prognosis
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Not well described in infants
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Generally poor for infants
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Depends on underlying condition
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Some carry 100% mortality rate e.g. Pompe,s disease
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Annual mortality 6% -8% in children
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One year survival rate: 63%
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5 year survival rate
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Clinical adage 1/3rd die; 1/3rd significant damage; 1/3rd recover (infective
myocarditis)
FETAL
CARDIOMYOPATHY
Fetal Cardiomyopathy:
A Journal Article Review
Schmidt KG, Einat B, Silverman NH, Scagneli SA.
Echocardiographic Evaluation of Dilated
Cardiomyopathy in the Human Fetus
The American Journal of Cardiology 1989; 63:599-605
Fetal Cardiomyopathy:
A Journal Article Review
Study Objectives
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To explore the possibility of detecting dilated cardiomyopathy in the prenatal
period
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To follow the the development of the disease during gestation
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To determine the effects of prenatal presentation on the postnatal course of the
disease
Fetal Cardiomyopathy:
A Journal Article Review
Study Methodology
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625 women had fetal echocardiography at the Univ. of California in San
Francisco from 1980 to 1987
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Criteria for inclusion in the study:
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Family history of congenital heart defects
Abnormal findings in obstetrics sonogram
No history of antecedent maternal illness
The echo was performed from 20 to 26 weeks gestation for family Hx
and @ time of presentation for the others
Fetal Cardiomyopathy:
A Journal Article Review
Study Findings
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6 of the 625 had dilated cardiomyopathy but had structurally normal hearts
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2 fetuses referred for family Hx had normal findings initially but later developed
cardiomyopathy on serial ECHOs
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Abnormal findings included:
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Reduced systolic myocardial performance(5)
AV valve regurgitation (3)
Abnormal chamber dimensions (3)
4 deaths (1 fetus, 3 neonates) 1 survivor required cardiac transplant in infancy
Fetal Cardiomyopathy:
A Journal Article Review
Study conclusions
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Dilated cardiomyopathy may develop during fetal life
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Diagnosis can be achieved by serial echocardiogram
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Normal findings in mid-trimester do not always rule out the subsequent development of
cardiomyopathy
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Reduced systolic performance; most sensitive finding and preceded the presence of
progressive dilation
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Fetal onset cardiomyopathy carried poor prognosis
(Conflicts with other studies that suggested better outcomes for early childhood onset)
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There were no predictive factors for outcome of the disease
(Similar to findings in studies of dilated cardiomyopathy in childhood)
Fetal Cardiomyopathy:
A Journal Article Review
Study Limitations
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Technical limitations: Unable to calculate ventricular volumes ejection fraction
earlier in the study
Difficulty comparing chamber enlargements and performance with normal values
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As was with all previous studies
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No defined normal values
Fetal Cardiomyopathy:
A Journal Article Review
Discussion
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The value of fetal echocardiogram in cardiomyopathy
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Research and further development
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Fetal echo usually done not solely for cardiomyopathy but for cardiac
anomalies in general
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Intervention ?
 Prenatal period
 Immediate postnatal period
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Cost effectiveness
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Prognostic value?
DR SCHUSTER
THANK YOU