Heart Failure

John Lynn Jefferies, MD, MPH,FAAP, FACC

Director, Cardiomyopathy, Advanced Heart Failure, and Ventricular Assist Device Programs

Co-Director, Cardiovascular GeneticsAssociate Professor, Pediatric Cardiology and

Adult Cardiovascular Diseases The Heart Institute

Cincinnati Children’s Hospital

HEART FAILURE DEFINED

“Heart failure is a complex clinical syndrome that canresult from any structural

or functional cardiac disorder that impairs the ability of the ventricle to fill with

or eject blood.”

Hunt SA et al. Circulation. 2001;104:2996

Heart Failure: Why the Concern?

• One in 8 deaths in the US has HF listed on the death certificate

• Cost to the US for HF treatment was 39.2 billion dollars in 2010

• To deliver more specialized care in this area, most adult programs have developed HF programs

Heart Failure: Why the Concern?• More than 5 million people in the US with the

diagnosis of HF• Over 600,000 new diagnoses each year• Underestimates the pediatric and ACHD

population• Many insurers are recognizing the importance

of specialized care in their reimbursement

Heart Failure

• Heart Failure is a common problem world-wide

• Historically thought of as volume overload• Current thought that this is a clinical syndrome• Should never be thought about as a “stand

alone” diagnosis• Causes can be numerous• May have multiple etiologies in any patient

Symptoms• Can be quite variable based on age of patient and

phenotype– Swelling–Dyspnea on exertion–Palpitations–Weight gain– Syncope

• Most common symptom in pediatric population – None– Failure to thrive, not meeting milestones

Jefferies and Towbin. Lancet 2010;375:752-62.

ANPBNP

Myocardial Injury Fall in LV Performance

Activation of RAAS and SNS(endothelin, AVP, cytokines)

Myocardial ToxicityChange in Gene Expression

Peripheral Vasoconstriction Sodium/Water Retention

HF SymptomsMorbidity and Mortality

Remodeling andProgressive

Worsening ofLV Function

Shah M et al. Rev Cardiovasc Med. 2001;2(suppl 2):S2

The Heart Failure Syndrome

The Heart Failure Syndrome

E Braunwald. NEJM 2008;358:2148-59.

The Heart Failure Syndrome

Bowles et al. Herz 2000;28:169-175.

11

Final Common Pathways

ACTC

Impaired

force

transmission

MYH7 TNNC1 TNNT2

TPM1

Impaired

force

generation

LMNA

Changes in nuclear structure

and function

LDB3

Changes in

stretch sensor

machinery

PLN

Calcium regulati

on

DILATED CARDIOMYOPATHY

SCN5A

Sodium regulati

on

Ronco et al. J Am Coll Cardiol 2008;52:1527-39.

Ronco et al. J Am Coll Cardiol 2008;52:1527-39.

Cardiomyopathies

• Hypertrophic Cardiomyopathy (HCM)• Dilated Cardiomyopathy (DCM)• Restrictive Cardiomyopathy (RCM)• Left Ventricular Noncompaction (LVNC)• Arrhythmogenic Right Ventricular

Cardiomyopathy (ARVC)

Systolic Heart Failure• Depressed ventricular function• Classically describing the left ventricle• Increasingly described in the right ventricle or in

both ventricles• Noninvasive imaging typical mode of diagnosis– Echocardiography, CT, MRI, Nuclear, Invasive

Angiography• In adults, typical cause is ischemic• In children, infectious or genetic more common

Heart Failure With Preserved Ejection Fraction (HFpEF)

• Formerly known as diastolic heart failure• 50% of adult heart failure cases–Unknown prevalence in children

• Outcome similar to those patients with HF and systolic dysfunction

• Increasing in incidence compared to HFrEF• Treatment options not as robust• Continuum of myocardial dysfunction?

Mechanism of HFpEF

Borlaug and Paulus. Eur Heart J 2011;32:670-679.

Right Ventricular Heart Failure

Haddad et al. J Cardiac Fail 2011;17:533-539.

Waldum et al. J Cardiac Fail 2010;16:374-380.

Renal Function in Chronic Heart Failure

Waldum et al. J Cardiac Fail 2010;16:374-380.

Renal Function in Chronic Heart Failure

Price et al. Pediatr Crit Care Med 2008;9:279-84.

Cardiorenal Syndrome in Pediatrics

The Big Picture of Heart Failure

Setaguchi et al. Am Heart J 2007;154:260-6

Increasing Need• Difficult to assess the prevalence of

cardiomyopathy accurately• ~5 million Americans suffer from symptomatic

heart failure• Estimated 50 million Americans meet criteria for

Stage A or B• We expect this underestimates the at risk

populations– Underuse of appropriate screening for at risk

populations

Conclusions

• Heart failure is a complex clinical syndrome• Proper management dependent on recognition of

appropriate components of care– Not just diuresis and inotropes

• Understanding etiology often more challenging in pediatric populations

• Collaborative approach with multiple disciplines including Nephrology leads to best outcome