Abstract
Hypertrophic cardiomyopathy (HCM) has a prevalence of ~0.2 % in the general population and is the most genetic among cardiomyopathies (CMP). In fact, familial HCM accounts for 50 % of cases, with the remaining sporadic cases assumed to be de novo mutations. The disease is caused by mutations in one of more than 11 genes encoding for sarcomeric contractile myofilament proteins or components of the Z-disc. Clinically characterized by hypertrophy and diastolic dysfunction of the left ventricle (LV), it has a variety of clinical presentations that correlate with long-term outcome. In some cases, HCM can develop LV systolic dysfunction, configuring the so-called end-stage disease. Electrocardiography (ECG), echocardiography, and cardiac magnetic resonance (CMR) are the most important diagnostic tools. Prognostic stratification and pharmacological and nonpharmacological therapies are chosen on the basis of clinical–laboratory features. Genetic testing can be used to address some therapeutic and prophylactic strategies. HCM enters into the differential diagnosis with many other clinical or physiological conditions characterized by LV hypertrophy, such as hypertensive heart disease, athlete’s heart, cardiac amyloid, and other infiltrative/storage diseases, such as Fabry disease. Clinical evaluation and accurate examination of ECG, echocardiogram, CMR and other diagnostic tools are important in differential diagnosis and choosing specific therapies.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Similar content being viewed by others
References
Gersh BJ, Maron BJ, Bonow RO et al (2011) 2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. Circulation 124:783–831
Maron BJ, Maron MS (2013) Hypertrophic cardiomyopathy. Lancet 381:242–255
Prinz C, Farr M, Hering D et al (2011) The diagnosis and treatment of hypertrophic cardiomyopathy. Dtsch Arztebl Int 108:209–215
Alcalai R, Seidman JG, Seidman CE (2008) Genetic basis of hypertrophic cardiomyopathy: from bench to the clinics. J Cardiovasc Electrophysiol 19:104–110
Williams LK, Frenneaux MP, Steeds RP (2009) Echocardiography in hypertrophic cardiomyopathy diagnosis, prognosis, and role in management. Eur J Echocardiogr 10:9–14
Harris KM, Spirito P, Maron MS et al (2006) Prevalence, clinical profile, and significance of left ventricular remodeling in the end-stage phase of hypertrophic cardiomyopathy. Circulation 114:216–225
Dilsizian V, Bonow RO, Epstein SE et al (1993) Myocardial ischemia detected by thallium scintigraphy is frequently related to cardiac arrest and syncope in young patients with hypertrophic cardiomyopathy. J Am Coll Cardiol 22:796–804
Rapezzi C, Arbustini E, Caforio AL et al (2013) Diagnostic work-up in cardiomyopathies: bridging the gap between clinical phenotypes and final diagnosis. A position statement from the ESC Working Group on Myocardial and Pericardial Diseases. Eur Heart J 34:1448–1458
McLeod CJ, Ackerman MJ, Nishimura RA et al (2009) Outcome of patients with hypertrophic cardiomyopathy and a normal electrocardiogram. J Am Coll Cardiol 54:229–233
Melacini P, Basso C, Angelini A et al (2010) Clinicopathological profiles of progressive heart failure in hypertrophic cardiomyopathy. Eur Heart J 31:2111–2123
Topol EJ, Traill TA, Fortuin NJ (1985) Hypertensive hypertrophic cardiomyopathy of the elderly. N Engl J Med 312:277–283
Fabris E, Brun F, Porto AG et al (2013) Cardiac hypertrophy, accessory pathway, and conduction system disease in an adolescent: the PRKAG2 cardiac syndrome. J Am Coll Cardiol 62:e17
Maron BJ, Rowin EJ, Casey SA et al (2013) Risk stratification and outcome of patients with hypertrophic cardiomyopathy >=60 years of age. Circulation 127:585–593
Fananapazir L, Epstein ND, Curiel RV et al (1994) Long-term results of dual-chamber (DDD) pacing in obstructive hypertrophic cardiomyopathy. Evidence for progressive symptomatic and hemodynamic improvement and reduction of left ventricular hypertrophy. Circulation 90:2731–2742
Rogers DP, Marazia S, Chow AW et al (2008) Effect of biventricular pacing on symptoms and cardiac remodelling in patients with end-stage hypertrophic cardiomyopathy. Eur J Heart Fail 10:507–513
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2014 Springer International Publishing Switzerland
About this chapter
Cite this chapter
Merlo, M., Cocciolo, A., Brun, F., Sinagra, G. (2014). Hypertrophic Cardiomyopathy: Clinical Assessment and Differential Diagnosis. In: Pinamonti, B., Sinagra, G. (eds) Clinical Echocardiography and Other Imaging Techniques in Cardiomyopathies. Springer, Cham. https://doi.org/10.1007/978-3-319-06019-4_9
Download citation
DOI: https://doi.org/10.1007/978-3-319-06019-4_9
Published:
Publisher Name: Springer, Cham
Print ISBN: 978-3-319-06018-7
Online ISBN: 978-3-319-06019-4
eBook Packages: MedicineMedicine (R0)