Etiology and diagnosis of heart failure in infants and children
- Rakesh K Singh, MD, MS
Rakesh K Singh, MD, MS
- Associate Professor of Pediatrics
- University of California, San Diego
- TP Singh, MD, MSc
TP Singh, MD, MSc
- Associate Professor of Pediatrics
- Harvard Medical School
In the United States, heart failure-related hospitalization is increasing, and accounts for 14,000 hospitalizations in children [1,2]. In-hospital mortality ranges from 7 to 11 percent [2,3]. The presentation of pediatric heart failure is diverse because of the numerous underlying cardiac etiologies and varying clinical settings (eg, age at presentation).
The etiology, presentation, diagnosis, and initial evaluation of the pediatric patient with heart failure are reviewed here. The management of heart failure in infants and children is discussed separately. (See "Management of heart failure in infants and children".)
Heart failure is a clinical condition that results from impairment of the ventricle to fill with or eject blood. Heart failure is caused by ventricular pump dysfunction, or by overload of volume (preload) or pressure (afterload) [1,4].
PATHOPHYSIOLOGY AND ETIOLOGY
The causes of pediatric heart failure can be divided into pathophysiologic categories (table 1). This categorization helps in the understanding of the underlying physiology and clinical manifestations of the different causes of pediatric heart failure, and guides the approach to management. (See "Management of heart failure in infants and children".)
●Ventricular pump dysfunction − Ventricular dysfunction results in reduced ventricular contractility that leads to impaired ejection of blood from the ventricle. Ventricular dysfunction can occur in both children born with structurally normal hearts and those with congenital heart disease. Children born with a congenital heart lesion may have ventricular pump dysfunction at presentation, but more commonly develop pump dysfunction and heart failure several years (or even decades) following surgical repair of their cardiac defect (ie, “burnt-out” congenital heart disease). (See 'Ventricular pump dysfunction' below.)
- Hsu DT, Pearson GD. Heart failure in children: part I: history, etiology, and pathophysiology. Circ Heart Fail 2009; 2:63.
- Rossano JW, Kim JJ, Decker JA, et al. Prevalence, morbidity, and mortality of heart failure-related hospitalizations in children in the United States: a population-based study. J Card Fail 2012; 18:459.
- Shamszad P, Hall M, Rossano JW, et al. Characteristics and outcomes of heart failure-related intensive care unit admissions in children with cardiomyopathy. J Card Fail 2013; 19:672.
- Madriago E, Silberbach M. Heart failure in infants and children. Pediatr Rev 2010; 31:4.
- Lipshultz SE, Sleeper LA, Towbin JA, et al. The incidence of pediatric cardiomyopathy in two regions of the United States. N Engl J Med 2003; 348:1647.
- Canter CE, Simpson KE. Diagnosis and treatment of myocarditis in children in the current era. Circulation 2014; 129:115.
- Raj S, Franco VI, Lipshultz SE. Anthracycline-induced cardiotoxicity: a review of pathophysiology, diagnosis, and treatment. Curr Treat Options Cardiovasc Med 2014; 16:315.
- Book WM. Heart failure in the adult patient with congenital heart disease. J Card Fail 2005; 11:306.
- Jessup M, Abraham WT, Casey DE, et al. 2009 focused update: ACCF/AHA Guidelines for the Diagnosis and Management of Heart Failure in Adults: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines: developed in collaboration with the International Society for Heart and Lung Transplantation. Circulation 2009; 119:1977.
- Rosenthal D, Chrisant MR, Edens E, et al. International Society for Heart and Lung Transplantation: Practice guidelines for management of heart failure in children. J Heart Lung Transplant 2004; 23:1313.
- Criteria Committee of the New York Heart Association. Nomenclature and Criteria for Diagnosis of Diseases of the Heart and Great Vessels, 9th ed, Little, Brown & Co., Boston 1994.
- Ross RD, Bollinger RO, Pinsky WW. Grading the severity of congestive heart failure in infants. Pediatr Cardiol 1992; 13:72.
- Reithmann C, Reber D, Kozlik-Feldmann R, et al. A post-receptor defect of adenylyl cyclase in severely failing myocardium from children with congenital heart disease. Eur J Pharmacol 1997; 330:79.
- Läer S, Mir TS, Behn F, et al. Carvedilol therapy in pediatric patients with congestive heart failure: a study investigating clinical and pharmacokinetic parameters. Am Heart J 2002; 143:916.
- Ross RD. The Ross classification for heart failure in children after 25 years: a review and an age-stratified revision. Pediatr Cardiol 2012; 33:1295.
- Ross RD, Daniels SR, Schwartz DC, et al. Plasma norepinephrine levels in infants and children with congestive heart failure. Am J Cardiol 1987; 59:911.
- Wu JR, Chang HR, Huang TY, et al. Reduction in lymphocyte beta-adrenergic receptor density in infants and children with heart failure secondary to congenital heart disease. Am J Cardiol 1996; 77:170.
- Connolly D, Rutkowski M, Auslender M, Artman M. The New York University Pediatric Heart Failure Index: a new method of quantifying chronic heart failure severity in children. J Pediatr 2001; 138:644.
- Tissières P, Aggoun Y, Da Cruz E, et al. Comparison of classifications for heart failure in children undergoing valvular surgery. J Pediatr 2006; 149:210.
- Hollander SA, Addonizio LJ, Chin C, et al. Abdominal complaints as a common first presentation of heart failure in adolescents with dilated cardiomyopathy. Am J Emerg Med 2013; 31:684.
- Hsu DT, Pearson GD. Heart failure in children: part II: diagnosis, treatment, and future directions. Circ Heart Fail 2009; 2:490.
- Satou GM, Lacro RV, Chung T, et al. Heart size on chest x-ray as a predictor of cardiac enlargement by echocardiography in children. Pediatr Cardiol 2001; 22:218.
- Pignatelli RH, McMahon CJ, Dreyer WJ, et al. Clinical characterization of left ventricular noncompaction in children: a relatively common form of cardiomyopathy. Circulation 2003; 108:2672.
- Attili AK, Parish V, Valverde I, et al. Cardiovascular MRI in childhood. Arch Dis Child 2011; 96:1147.
- Gagliardi MG, Bevilacqua M, Di Renzi P, et al. Usefulness of magnetic resonance imaging for diagnosis of acute myocarditis in infants and children, and comparison with endomyocardial biopsy. Am J Cardiol 1991; 68:1089.
- Tandri H, Castillo E, Ferrari VA, et al. Magnetic resonance imaging of arrhythmogenic right ventricular dysplasia: sensitivity, specificity, and observer variability of fat detection versus functional analysis of the right ventricle. J Am Coll Cardiol 2006; 48:2277.
- Thuny F, Jacquier A, Jop B, et al. Assessment of left ventricular non-compaction in adults: side-by-side comparison of cardiac magnetic resonance imaging with echocardiography. Arch Cardiovasc Dis 2010; 103:150.
- Pophal SG, Sigfusson G, Booth KL, et al. Complications of endomyocardial biopsy in children. J Am Coll Cardiol 1999; 34:2105.
- Soongswang J, Durongpisitkul K, Nana A, et al. Cardiac troponin T: a marker in the diagnosis of acute myocarditis in children. Pediatr Cardiol 2005; 26:45.
- Pediatric Cardiomyopathy, 3rd, Singh RK, Gersony WM, Addonizio LJ (Eds), Lippincott Williams & Wilkins, Philadelphia 2010.
- Favilli S, Frenos S, Lasagni D, et al. The use of B-type natriuretic peptide in paediatric patients: a review of literature. J Cardiovasc Med (Hagerstown) 2009; 10:298.
- Mir TS, Marohn S, Läer S, et al. Plasma concentrations of N-terminal pro-brain natriuretic peptide in control children from the neonatal to adolescent period and in children with congestive heart failure. Pediatrics 2002; 110:e76.
- Holmström H, Hall C, Thaulow E. Plasma levels of natriuretic peptides and hemodynamic assessment of patent ductus arteriosus in preterm infants. Acta Paediatr 2001; 90:184.
- Ko HK, Lee JH, Choi BM, et al. Utility of the rapid B-type natriuretic peptide assay for detection of cardiovascular problems in newborn infants with respiratory difficulties. Neonatology 2008; 94:16.
- Koulouri S, Acherman RJ, Wong PC, et al. Utility of B-type natriuretic peptide in differentiating congestive heart failure from lung disease in pediatric patients with respiratory distress. Pediatr Cardiol 2004; 25:341.
- Law YM, Hoyer AW, Reller MD, Silberbach M. Accuracy of plasma B-type natriuretic peptide to diagnose significant cardiovascular disease in children: the Better Not Pout Children! Study. J Am Coll Cardiol 2009; 54:1467.
- Maher KO, Reed H, Cuadrado A, et al. B-type natriuretic peptide in the emergency diagnosis of critical heart disease in children. Pediatrics 2008; 121:e1484.
- Sugimoto M, Manabe H, Nakau K, et al. The role of N-terminal pro-B-type natriuretic peptide in the diagnosis of congestive heart failure in children. - Correlation with the heart failure score and comparison with B-type natriuretic peptide -. Circ J 2010; 74:998.
- Mangat J, Carter C, Riley G, et al. The clinical utility of brain natriuretic peptide in paediatric left ventricular failure. Eur J Heart Fail 2009; 11:48.
- Fried I, Bar-Oz B, Perles Z, et al. N-terminal pro-B-type natriuretic peptide levels in acute versus chronic left ventricular dysfunction. J Pediatr 2006; 149:28.
- Price JF, Thomas AK, Grenier M, et al. B-type natriuretic peptide predicts adverse cardiovascular events in pediatric outpatients with chronic left ventricular systolic dysfunction. Circulation 2006; 114:1063.
- Auerbach SR, Richmond ME, Lamour JM, et al. BNP levels predict outcome in pediatric heart failure patients: post hoc analysis of the Pediatric Carvedilol Trial. Circ Heart Fail 2010; 3:606.
- Nasser N, Perles Z, Rein AJ, Nir A. NT-proBNP as a marker for persistent cardiac disease in children with history of dilated cardiomyopathy and myocarditis. Pediatr Cardiol 2006; 27:87.
- Law YM, Ettedgui J, Beerman L, et al. Comparison of plasma B-type natriuretic peptide levels in single ventricle patients with systemic ventricle heart failure versus isolated cavopulmonary failure. Am J Cardiol 2006; 98:520.
- Lowenthal A, Camacho BV, Lowenthal S, et al. Usefulness of B-type natriuretic peptide and N-terminal pro-B-type natriuretic peptide as biomarkers for heart failure in young children with single ventricle congenital heart disease. Am J Cardiol 2012; 109:866.
- Hayakawa H, Komada Y, Hirayama M, et al. Plasma levels of natriuretic peptides in relation to doxorubicin-induced cardiotoxicity and cardiac function in children with cancer. Med Pediatr Oncol 2001; 37:4.
- Pinarli FG, Oğuz A, Tunaoğlu FS, et al. Late cardiac evaluation of children with solid tumors after anthracycline chemotherapy. Pediatr Blood Cancer 2005; 44:370.
- Aggarwal S, Pettersen MD, Bhambhani K, et al. B-type natriuretic peptide as a marker for cardiac dysfunction in anthracycline-treated children. Pediatr Blood Cancer 2007; 49:812.
- PATHOPHYSIOLOGY AND ETIOLOGY
- Ventricular pump dysfunction
- - Structurally normal heart
- - Congenital heart disease
- Preserved ventricular pump function with volume overload
- - Cardiac causes
- - Noncardiac causes
- Preserved ventricular pump function with pressure overload
- STAGING AND CLASSIFICATION
- Staging of the progression of HF
- Classification of HF severity
- - NYHA class
- - Ross classification
- - NYU Pediatric HF Index
- CLINICAL MANIFESTATIONS
- Physical examination
- INITIAL EVALUATION
- Chest radiography
- Initial blood tests
- FURTHER EVALUATION
- Magnetic resonance imaging
- Cardiac catheterization
- Additional blood tests
- - Troponin and creatine kinase
- - Inflammatory markers
- - Genetic testing
- - BNP and NT-proBNP
- - Other studies
- DIFFERENTIAL DIAGNOSIS
- SUMMARY AND RECOMMENDATIONS