Heart Failure
John Lynn Jefferies, MD, MPH,
FAAP, FACC
Director, Cardiomyopathy, Advanced Heart Failure, and
Ventricular Assist Device Programs
Co-Director, Cardiovascular Genetics
Associate 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 can
result 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 worldwide
• 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.
The Heart Failure Syndrome
Fall in LV Performance
Myocardial Injury
Activation of RAAS and SNS
(endothelin, AVP, cytokines)
Myocardial Toxicity
Change in Gene Expression
Morbidity and Mortality
ANP
BNP
Remodeling and
Progressive
Worsening of
LV Function
Peripheral Vasoconstriction
Sodium/Water Retention
HF Symptoms
Shah M et al. Rev Cardiovasc Med. 2001;2(suppl 2):S2
The Heart Failure Syndrome
E Braunwald. NEJM 2008;358:2148-59.
The Heart Failure Syndrome
Bowles et al. Herz 2000;28:169-175.
Final Common Pathways
ACTC
MYH7 TNNC1
TNNT2
LMNA
LDB3
PLN
SCN5A
TPM1
Impaired
Impaired
force
force
transmission
generation
Changes in
nuclear
structure
and
function
Changes
in stretch
sensor
machinery
DILATED CARDIOMYOPATHY
11
Calcium
regulation
Sodium
regulation
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.
Renal Function in Chronic Heart Failure
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.
Cardiorenal Syndrome in Pediatrics
Price et al. Pediatr Crit Care Med 2008;9:279-84.
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