MYOCARDIAL DYSFUNCTION

Definition
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 disease10% of all pediatric cardiac deaths
Pathophysiologic Classification

Dilated Cardiomyopathy Insult to the myocardium-tissue necrosis/interstitial fibrosis

impaired systolic contractility/diastolic compliance
ventricular dilation to maintain function
Left +/- right sides
ETIOLOGY-
Perinatal insult/ maladjustment-Asphyxia ;Persistent fetal circulation
Congenital anomalies -Anomalous origin of Left coronary
Inborn errors of metabolism
1. Glycogen storage dses (Pompe’s dse)
2. mitochondrial cardiomyopathy
3. Mucopolysaccharidosis
4. Disorders of fatty acid metabolism (Carnitine deficiency)
5. Amino & organic acidiurias
Maternal connective Tissue disease -SLE
Myopathies –nemaline rod,mini& multicore& myotubular myopathies
Hypertrophic Myocyte hypertrophy & disarray
Cardiomyopathy Increased mass & thickness
Increased mass/volume ratio
Poor diastolic chamber compliance -Left ventricle
High systolic pressure gradient
CAUSES
Familial
Idiopathic Hypertrophic
Maternal disease -Diabetes
Myocarditis- Infectious, endotoxins, exotoxicins
Drugs /Iatrogenic-Dexamathasone (BPD), ECMO, Chloramphenicol
Malformation syndromes :Beckwith wiedemann; Noonan; Leopard; Downs

Restrictive Rare, very small L ventricular cavity

Cardiomyopathy Impaired diastolic function initially

Unclassified
cardiomyopathy
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

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

HCM in IDM
Infants of diabetic mothers (IDM) are at an increased risk of developing transient
hypertrophic cardiomyopathy (HCM).
It occurs in around 5% of infants with mothers with gestational diabetes. The
incidence is higher in mothers with type 1 and 2 diabetes where 25–50% of infants
are at risk of developing
It is more common in mothers with poor glycemic control, but can occur in mothers
with diabetes and good glycemic control throughout pregnancy.
The condition may be identified on antenatal scans. Severe cases could be associated
with third trimester polyhydramnious, severe ventricular hypertrophy, and
pericardial effusion.
The majority of infants are asymptomatic at birth.
About 10% of infants are symptomatic with signs of respiratory distress and poor
cardiac output.
Heart failure could also develop.
The heart will appear large on chest radiographs.
Echocardiography is the gold standard for diagnosis. The heart usually appears
hypertrophied, with prominent thickening of the interventricular septum. The
ventricular chambers are usually small in size and may be associated with left
ventricular outflow tract obstruction.
This may be aggravated by anterior systolic motion of the mitral valve.
HCM is usually transient and resolves as insulin levels fall.
Symptomatic infants, however, may need cardiovascularsupport.
This includes administration of intravenous fluids and the judicious use of
propranolol.
Inotropes are generally contraindicated as they may further increase afterload,
decrease ventricular size, and further obstruct outflow. Intravenous vasopressin
should be considered as it will increase myocardial preload with negligible direct
effects on myocardial performance.
Digitalis is also contraindicated
Diuretics are absolutely contraindicated, as a reduction of preload will be detrimental
to ventricular filing and systemic blood flow
Prognosis: Usually good, resolves in months

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
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

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

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

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

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

Diagnostic Evaluation
Step 1: Initial Evaluation-EKGCXR 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

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

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)