Case RoundsLaura Miles

March 3 2012

6 month old female

Several day hx of cough and increased work of breathing

What do you want to What do you want to know?know?

Any investigations?Any investigations?

CXRCXR

Further Testing…Further Testing… EGC

Evidence of LVH and possible RVH Inferior T wave inversion

Echo Globally poor LV function Dilated and globular LV SF 11 % and EF 22% Normal coronaries

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CardiomyopathyCardiomyopathy Classification

Pathophysiology

Causes

Management

ClassificationClassification Dilated Cardiomyopathy

Hypertrophic Cardiomyopathy

Restrictive Cardiomyopathy

Dilated Dilated CardiomyopathyCardiomyopathy

Dilation and impaired systolic function of left or both ventricles

Most common type of cardiomyopathy in children Up to 50% 0.5 - 8 per 100 000 children

PresentationPresentation Initial signs and symptoms may be very

vague Irritability Anorexia Abdominal pain Cough (from pulmonary congestion)

PresentationPresentation Signs and symptoms of CHF

Poor systolic function Limited cardiac output

Ventricles enlarge and myocardium hypertrophies in an effort to maintain cardiac output

Enlargement of ventricles increases systolic wall tension in ventricle and increases myocardial oxygen consumption

PresentationPresentation Decreased cardiac output decreases renal

blood flow Enhances renin-angiotensin system Fluid retention (necessary to maintain output)

Stimulation of the sympathetic nervous system increased heart rate

Valvular regurg – dilation of the valve annulus Further myocardial oxygen demand

Physical ExamPhysical Exam Signs of CHF

Cardiomegaly Hepatomegaly Tachycardia Tachypnea

Decreased arterial pulse pressure

Narrow pulse pressure

Gallop

Murmur (MR)

Further SequelaeFurther Sequelae Abnormal myocytes conduction

abnormalities Nonspecific ST and T wave changes Atrial arrhythmias Ventricular arrhythmias

Intraventricular thrombus formation low flow state

A HUGE Differential!!A HUGE Differential!! Majority are idiopathic

20-50% familial Autosomal dominant is most common 5-10% are X linked Small number of autosomal recessive

Mitochondrial

Viral myocarditis

A HUGE Differential!!A HUGE Differential!! Neuromuscular

Duchenne’s Muscular Dystrophy Becker’s Muscular Dystrophy

Later onset and slower progression Myotonic Dystrophy

Other less common Other less common causes:causes:

Infectious (excluding viral myocarditis)

Metabolic Storage diseases

Nutritional deficiencies

Endocrine Hypo/hyperthyroidism Pheochromocytoma

Other less common Other less common causes:causes:

Coronary artery abnormalities Congenital

Abnormal placement of the right coronary artery between the great vessels

Acquired Kawasaki’s

Cardiotoxins Anthracyclines

Doxorubicin Donorubicin Can occur anywhere from months after

treatment completion to years later

Other less common Other less common causes:causes:

Connective tissue diseases

Tachyarrhythmias

Familial hypercholesterolemia

HIV associated

Iron overload

Severe Hypertension

TreatmentTreatment Look for an identifiable cause and treat it!

Majority of patients however have no specific etiology identified

TreatmentTreatment Afterload reduction to improve forward

failure

Diuretics as needed for symptoms of backward failure

Inotropic agents to improve symptomatic forward failure

TreatmentTreatment Treatment is supportive

Either the process resolves The heart improves Or the heart is transplanted

Natural HxNatural Hx Extremely variable

Transient dysfunction with complete recovery and minimal symptoms

Rapid progression to cardiogenic shock and death

Anything in between

Most deaths occur within the first 6 months to 2 years after presentation

Hypertrophic Hypertrophic CardiomyopathyCardiomyopathy

Left ventricular disease

Thickening of the ventricular wall

Nondilated

Hypertrophic Hypertrophic CardiomyopathyCardiomyopathy

Can be symmetric or asymmetric Asymmetric hypertrophy can obscure outflow

tract (HOCM – hypertrophic obstructive cardiomyopathy)

Diagnosis is appropriate only after other causes of left ventricular hypertrophy are excluded

CausesCauses Can be divided into:

Primary (genetic mutation) Secondary

Obstructive congenital heart disease Inborn error of metabolism

CausesCauses Familial

Most often autosomal dominant Wide variability in penetrance Often denovo Generally worse prognosis with early signs of

disease

CausesCauses Transient

Infant of a diabetic mother Can develop with corticosteroid use in prems

Metabolic Glycogen storage disease

Pompe

PresentationPresentation Up to 50% of cases present

asymptomatically Evaluation of a murmur Screening due to a family history

Chest pain

Exercise intolerance

Arrhythmia

Near death event

TreatmentTreatment Supportive

Important to maintain preload and avoid hypovolemia

No role for afterload reduction or inotropic support (systolic function usually ok)

Use of beta blockers, calcium channel blockers Prevention of sudden death debatable May reduce symptoms

TreatmentTreatment Indications for ICD treatment

Family history Severe hypertrophy History of ventricular arrhythmia Near sudden death

Restrictive Restrictive CardiomyopathyCardiomyopathy

Restriction of flow into the ventricles

Accounts for less than 5% of cardiomyopathies in children

PathophysiologyPathophysiology Abnormal relaxation of ventricular

myocardium

Decreased ventricular compliance

Altered diastolic filling Increased ventricular end-diastolic pressure Elevated atrial pressure Enlargement of atrium

CausesCauses Idiopathic

Systemic disease Scleroderma Amyloidosis Sarcoidosis

Inborn errors of metabolism Mucopolysaccharidosis Hypereosinophilia

Radiation

Malignancy

Noncompaction of the left ventricular myocardium

TreatmentTreatment Medical treatment has limited success

Pay close attention to fluid balance High atrial pressures required for adequate

preload If atrial pressures too high, may lead to

congestion Difficult to achieve adequate balance

Usually require early consideration for transplant

Questions??

ReferencesReferences