Cardiomyopathy And The Newborn

CARDIOMYOPATHY & THE NEWBORN

N. Felicia Ochei, M.D.Pediatrics-PL 2

November 2002

Introduction

Topics

Peripartum Cardiomyopathy: Implications to the fetal well-being

Review of Cardiomyopathy in the Neonatal period

Fetal Cardiomyopathy: A Journal article Review

Peripartum Cardiomyopathy

Definition

Dilated cardiomyopathy of uncertain origin characterized by:

Cardiac failure in the last month of pregnancy or within 5 months after delivery

Absence of demonstrable cause for the cardiac failure

Absence of demonstrable heart disease before the last month of pregnancy

Documented systolic dysfunction*


Incidence U.S. 1:1300 to 15,000 live births

Japan 1:6000 live births

South Africa 1:1000

Nigeria High incidence: ? related to tradition of ingestion dried lake salt

Age Wide range probably more common > 30 years*

Peripartum CardiomyopathyMedical Rx

Inotropics Digioxin Dobutamine when indicated

Loop diuretics

Beta blockers

Anticoagulation Heparin(unfractionated, LMWH) Warfarin (post partum)

After load reduction Hydralazine Nitrates

Obstetric mgt Spontaneous vaginal delivery at term is

reasonable unless mother is decompensating

Painless and effortless labor/delivery

Inhaled analgesia preferred (epidural/spinal contraindicated for 24hrs after use of LMWH)

Forceps/vacuum assisted delivery is the rule

Vaginal delivery preferred as C/S carries a higher risk of PE and and endometritis (75%)

Peripartum CardiomyopathyFetal Implications

Fetal distress from maternal hypoxia

Placental hypo-perfusion Poor cardiac output Excessive use of diuretics Hypotension from afterload reducers

Complications of instrumental delivery

Complications of intra partum anesthesia (choice & quantity)

Risks of Preterm delivery Severe maternal decompensation

Adverse effects of medications (e.g. Digoxin, Beta blockers, LMWH) Safety for use in pregnancy not established

Psychosocial issues Infant maternal bonding


The pediatrician’s Role

Liaison with OB

Careful maternal history

Anticipate problems from Preterm delivery Maternal Medications Fetal distress Instrumental delivery

Neonatal CardiomyopathyNeonatal Cardiomyopathy

Neonatal CardiomyopathyDefinitions

Neonate: Birth to 28 days of life

Neonatal Cardiomyopathy: Disease of the neonate in which the myocardium is affected without primary abnormalities of the valves, great vessels or septum

Epidemiology

Difficult to define: Few studies, rare disease entities

Estimates: 1: 10,000 live births (Nelson)

Constitutes about 1% of childhood cardiac disease

10% of all pediatric cardiac deaths

Neonatal Cardiomyopathy: Pathophysiologic Classification

WHO (1980) Guidance for therapy and prognosis

Dilated Cardiomyopathy Insult to the myocardium tissue necrosis/interstitial fibrosis impaired systolic

contractility/diastolic compliance ventricular dilation to maintain

function Left +/- right sides

Hypertrophic Cardiomyopathy Myocyte hypertrophy & disarray Increased mass & thickness Increased mass/volume ratio Poor diastolic chamber compliance

Left ventricle High systolic pressure gradient

Restrictive Cardiomyopathy Rare, very small L ventricular cavity Impaired diastolic function initially

Unclassified cardiomyopathy

Neonatal Cardiomyopathy: Etiologic classification

DILATED Perinatal insult/ maladjustment

Asphyxia Persistent fetal circulation

Congenital anomalies Anomalous origin of Left coronary

Inborn errors of metabolism Glycogen storage dses (Pompe’s dse) Mucopolysaccharidosis Disorders of fatty acid metabolism

(Carnitine deficiency) Amino & organic acidiurias

Maternal connective Tissue dse SLE

HYPERTROPHIC Familial

Idiopathic Hypertrophic

Maternal disease Diabetes

Myocarditis Infectious endotoxins, exotoxicins

Drugs /Iatrogenic Dexamathasone (BPD)( case report) ECMO (case report) Adriamycin Chloramphenicol

Malformation syndromes Beckwith wiedemann Noonan Leopard Downs (case report)

Neonatal Cardiomyopathy:Clinical Features

History Non specific Pallor, irritability Tachypnea Diaphoresis Fatigue esp with feeds Poor wt gain

PE Signs of CCF:

Tachypnea, tachycardia, narrow pulse p

Decreased peripheral pulse, hepatomegaly, wheezing +/- cyanosis

Murmur of mitral insufficiency +/- left ventricular outflow

obstruction(hypertrophic) Features of underlying etiology

EKG Flat T wave ST depression Generalized low voltages Characteristic findings for the

underlying abnormality

CXR Cardiomegaly May be normal in fulminant cases Pulmonary edema Pericardial effusion may be present

(Water-bottle configuration)

ECHO Diagnostic Ventricular dilatation/dyskinesia Ventricular outflow obstruction

Neonatal Cardiomyopathy:Asphyxia induced

Hypoxia leads to myocardial ischemia/dilation

Term infant with delivery complicated by hypoxic stress

Apgars usually <3 @ 1

Metabolic acidosis/ multi system ischemia

Severe cases: Hypotension/shock

Murmur of mitral/tricuspid regurg may be present

EKG: Diffuse ST -T changes, R atrial hypertrophy

Prognosis: Good without cardiogenic shock

Neonatal Cardiomyopathy: From Maternal Diabetes

Asymmetric hypertrophic cardiomyopathy

Mechanism not clearly understood ? Hyperinsulinemia

Prevalence unrelated to diabetic control of mother

Puffy, Plethoric infant, with signs and symptoms of CCF

SEM common and related to degree of outflow obstruction

RX:Usually symptomatic

Prognosis: Usually good, resolves in months

Digitalis and other inotropics agents are contraindicatedexcept in very severe depression of myocardial contractility

Neonatal Cardiomyopathy:Carnitine deficiency

Autosomal recessive inheritance

Plasma memb carnitine transport defect: Impairs fatty acid oxidation

Metabolic acidosis, intractable hypoglycemia, severe non-immune hydrops, +/-muscle weakness

EKG: Giant T waves(pathognomonic)

Subnormal carnitine level 1-2 %, heterozygous parents have 50 % levels

Symptomatic Rx for the cardiac failure gives minimal benefits

Definitive Rx: Oral carnitine supplements

Prognosis: Usually good with early diagnosis and Rx

Risk of growth and mental retardation

Neonatal Cardiomyopathy:Myocarditis

Any infectious agent, commonly Coxsackie B, ECHO viruses, herpes, HIV, Rubella

Bacterial/fungal infections

Vertical/horizontal spread

Pathology: multicellular infiltrates

Usually first 10 days of life

Features of acute infective process

Involvement of other organs like CNS esp Coxsackie B

Gamma globulins beneficial

Rx underlying infection: Interferon, Ribavirin

Neonatal Cardiomyopathy:Pompe’s Disease

Generalized form of glycogen storage dse (type II)

Lysosomal alpha- glucosidase deficiency

Autosomal recessive

Infiltrative cardiomyopathy

Skeletal muscular hypotonia: Protruding tongue, feeble cry, poor feeding

Hyporeflexia

Diagnosis: Measurement of enzyme activity or DNA analysis

EKG: (characteristic) Short PR interval prominent P waves massive QRS voltage

Uniformly fatal

Neonatal Cardiomyopathy:1diopathic Familial

Multi gene disorder

Autosomal with variable penetrance

Ventricular dysrhthmias/ Sudden death

Normal Echo @ birth does not rule out disease in later life

Avoid diuretics & inotropics

Ventricular septal myomectomy

Cardiac transplantation

Those presenting @ birth have worse prognosis

Neonatal Cardiomyopathy: Endocardial Fibroelastosis

No established cause

Also called elastic tissue hyperplasia

Pathology: White opaque fibroblastic thickening of the endocardium

1:6000 (1960); 1:70,000 (1980)

Infants < 6 months usually

Severe CCF/ rhythm disturbances

Failure to thrive

CXR : Massive cardiomegaly

EKG: Low voltage as in severe myocarditis

ECHO: Bright -appearing endocardial surface

Neonatal Cardiomyopathy:Anomalous origin of the left coronary artery

From the pulmonary artery

Should be ruled out in all cases of cardiomyopathy

EKG: anterolateral infarct

Surgical correction usually successful

Neonatal Cardiomyopathy;Diagnostic Evaluation

Step 1: Initial Evaluation EKG CXR ECHO

Step 2: Screening Evaluation 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 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 Non specific therapy for heart

failure, to improve survival & alleviate symptoms

ACE inhibitors (captopril, enalpril) Reduce afterload Improve cardiac ejection Reduce catecholamine drive

prolonging cardiac survival Careful titration necessary

B blockers (metoprolol, carvedilol)

Digoxin Diuretics

Specific Therapy Depends on the underlying disease

condition

Most have no effective Rx Carnitine supplements Surgery

Correction of aberrant vessels Implanable defibrillators Partial left venticulectomy Cardiac transplant

Neonatal Cardiomyopathy:Prognosis

Not well described in infants

Generally poor for infants

Depends on underlying condition

Some carry 100% mortality rate e.g. Pompe,s disease

Annual mortality 6% -8% in children

One year survival rate: 63%

5 year survival rate

Clinical adage 1/3rd die; 1/3rd significant damage; 1/3rd recover (infective myocarditis)

FETAL FETAL CARDIOMYOPATHYCARDIOMYOPATHY

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


Study Objectives

To explore the possibility of detecting dilated cardiomyopathy in the prenatal period

To follow the the development of the disease during gestation

To determine the effects of prenatal presentation on the postnatal course of the disease


Study Methodology

625 women had fetal echocardiography at the Univ. of California in San Francisco from 1980 to 1987

Criteria for inclusion in the study: 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


Study Findings

6 of the 625 had dilated cardiomyopathy but had structurally normal hearts

2 fetuses referred for family Hx had normal findings initially but later developed cardiomyopathy on serial ECHOs

Abnormal findings included: 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


Study conclusions

Dilated cardiomyopathy may develop during fetal life

Diagnosis can be achieved by serial echocardiogram

Normal findings in mid-trimester do not always rule out the subsequent development of cardiomyopathy

Reduced systolic performance; most sensitive finding and preceded the presence of progressive dilation

Fetal onset cardiomyopathy carried poor prognosis(Conflicts with other studies that suggested better outcomes for early childhood onset)

There were no predictive factors for outcome of the disease (Similar to findings in studies of dilated cardiomyopathy in childhood)


Study Limitations

Technical limitations: Unable to calculate ventricular volumes ejection fraction earlier in the study

Difficulty comparing chamber enlargements and performance with normal values

As was with all previous studies No defined normal values


Discussion

The value of fetal echocardiogram in cardiomyopathy

Research and further development

Fetal echo usually done not solely for cardiomyopathy but for cardiac anomalies in general

Intervention ? Prenatal period Immediate postnatal period

Cost effectiveness

Prognostic value?

DR SCHUSTERDR SCHUSTER

THANK YOUTHANK YOU

Health & Medicine

Cardiomyopathy And The Newborn