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Echocardiography in Cor Pulmonale and Pulmonary Heart Disease

Acknowledgment The authors acknowledge the contributions of Dr. Danita M. Yoerger Sanborn, who was the author of this chapter in the previous edition. Cor pulmonale refers to right ventricular (RV) hypertrophy and enlargement caused by disorders of the lung parenchyma or vasculature. This excludes RV dysfunction from left heart failure or congenital heart disease. Cor pulmonale results from pulmonary hypertension (PH), which causes increased RV afterload…

Familial Cardiomyopathies

This chapter reviews four of the most common familial neuromuscular diseases that have significant cardiac manifestations: Friedreich ataxia (FA), myotonic dystrophy (DM), Duchenne muscular dystrophy (DMD), and Becker muscle dystrophy (BMD). These syndromes vary significantly in their inheritance patterns, epidemiology, and cardiac manifestations ( Table 76.1 ). TABLE 76.1 Characteristics of Familial Cardiomyopathies Familial Cardiomyopathy Genetics ECG Findings Echo Findings CMRI Findings Friedreich ataxia (FA) Autosomal…

Echocardiography in Arrhythmogenic Right Ventricular Cardiomyopathy

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited disorder causing fibrofatty replacement of the right ventricular myocardium. , This pathological change results in right ventricular (RV) dilatation and dysfunction, myocardial scarring, and risk of sudden cardiac death (SCD) caused by ventricular arrhythmia. Increasingly, there is appreciation of left heart involvement in ARVC, to the extent that some authors suggest excluding the RV specification and renaming the…

Restriction Versus Constriction

Acknowledgment The authors thank Dr. Karen Modesto for her contribution to the previous edition of this chapter. Constrictive pericarditis (CP) and restrictive cardiomyopathy (RCM) are both characterized by impairment of ventricular filling and manifest predominantly as so-called diastolic heart failure. However, the underlying pathophysiology in these two conditions is vastly different, which allows us to distinguish between these two conditions even though their clinical presentation may…

Endomyocardial Fibrosis

Endomyocardial fibrosis (EMF) is a restrictive cardiomyopathy that was first described as an independent pathological entity in 1948 by John N.P. Davies of Makerere University in Uganda. At necropsy, he found a series of hearts that had dense scarring of the mural endocardium. The fibrosis predominated at the apices and crept up toward the inflow tract. These cases presented with what he described as the “heart…

Hereditary and Acquired Infiltrative Cardiomyopathy

Infiltrative cardiomyopathies (ICMOs) are a form of restrictive cardiomyopathy that may be caused by either hereditary or acquired diseases. They are characterized by the deposition of abnormal substances within the myocardium that cause stiffening of the left ventricular (LV) walls. These disorders can be caused by conditions that cause abnormal substances to deposit within the myocyte, referred to as storage disorders, or abnormal deposition of substances…

Echocardiographic Diagnosis of Left Ventricular Noncompaction Cardiomyopathy

Left ventricular noncompaction (LVNC) is characterized by the presence of prominent left ventricular (LV) trabeculae with adjacent deep intertrabecular recesses overlying a thin compacted layer of myocardium. There are several controversies relating to LVNC, including whether LVNC is a genetic disorder or merely a remodeling phenomenon. , A second major controversy relates to whether this process occurs exclusively as an arrest during embryologic development or whether…

Right Ventricle in Dilated Cardiomyopathy

Dilated cardiomyopathy (DCM) encompasses a wide range of conditions in which the primary disorder is the enlargement of the ventricular chambers with normal left ventricular (LV) wall thickness, which ultimately leads to reduced LV contractile function and symptoms of heart failure. Both ischemic and nonischemic causes of DCM are discussed in this chapter. Although the prevalence of right ventricular (RV) dysfunction in patients with idiopathic DCM…

Echocardiographic Predictors of Outcome in Patients With Dilated Cardiomyopathy

As the burden of heart failure (HF) and cardiomyopathies continues to rise, the clinical need for early detection of individuals at risk becomes critical. Identification of patients with a poor prognosis allows for early interventions (primary prevention, medications, devices) that can dramatically change the course of their disease by improving quality of life and prolonging survival. Multiple predictors of outcomes in this population have been described…

Dilated Cardiomyopathy: Etiology, Pathophysiology, and Echocardiographic Evaluation

Dilated cardiomyopathy (DCM) is an important cause of heart failure worldwide. The annual global prevalence of DCM is estimated at 40 cases per 100,000 persons, and the annual incidence is estimated at 7 cases per 100,000 persons. Approximately 10,000 deaths and 46,000 hospitalizations per year in the United States are attributed to DCM. DCM is defined as ventricular dilatation and contractile dysfunction in the absence of…

Echocardiographic Assessment of Myocarditis

Myocarditis is a pathophysiological condition defined as infiltration of the myocardium by inflammatory cells with associated degenerative and necrotic changes not typical of ischemic injury. In severe cases, myocarditis is characterized by a rapid onset of heart failure symptoms. Although some patients with myocarditis may be asymptomatic, most patients present with chest pain, dyspnea, palpitations, and arrhythmias, which are symptoms seen with other cardiac diseases. Therefore,…

The Role of Echocardiography in the Screening and Evaluation of Athletes

In clinical practice, regular exercise is encouraged as an essential strategy in the prevention of incident coronary artery disease and heart failure. Regular, intense, and rigorous bouts of exercise, largely at a competitive level, have been associated with alterations in cardiac structure and function defined by the term “athlete’s heart.” Echocardiography plays a pivotal role in differentiating normal physiologic adaptations from occult pathologic disease. The implications…

Apical Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is a primary disease of cardiac muscle characterized by a hypertrophied, nondilated left ventricle unassociated with other cardiac diseases that can reasonably account for the magnitude of hypertrophy present. The distribution of left ventricular hypertrophy (LVH), the hallmark of HCM, occurs in many patterns within the ventricle. , Relatively uncommon, apical HCM is a unique subtype of HCM in which the LVH involves…

Hypertrophic Cardiomyopathy: Screening of Relatives

Acknowledgment The authors would acknowledge Dr. Maithri Siriwardena, who was a coauthor of this chapter in the second edition of the textbook. Hypertrophic cardiomyopathy (HCM) is a common genetic cardiac disorder. The prevalence of overt HCM (using the threshold of a wall thickness of at least 15 mm) is 1 in 500 (0.2%) in the general adult population. Because HCM has an autosomal dominant pattern of…

Hypertrophic Cardiomyopathy: Assessment of Therapy

Acknowledgment The authors acknowledge Dr. Paul Szmitko, who was the first author of this chapter in the second edition of the textbook. Dynamic left ventricular outflow tract obstruction (LVOTO) is an important clinical feature of hypertrophic cardiomyopathy (HCM). Resting or provocable LVOTO occurs in 70% of patients with HCM. The presence of resting LVOTO (traditionally defined as an left ventricular outflow tract (LVOT) gradient of ≥30…

Differential of Hypertrophic Cardiomyopathy Versus Secondary Conditions That Mimic Hypertrophic Cardiomyopathy

Acknowledgment The authors thank Dr. Christiane Gruner for her contribution to the previous edition of this chapter. Left ventricular (LV) hypertrophy (LVH) can represent either a physiologic or pathologic cardiac process that can be secondary to abnormal loading conditions or a variety of cardiac and systemic diseases ( Fig. 60.1 ). Echocardiography is not only the most commonly used method but also the most feasible method…

Hypertrophic Cardiomyopathy: Pathophysiology, Functional Features, and Treatment of Outflow Tract Obstruction

Acknowledgment The authors acknowledge Dr. Paul Szmitko, who was the first author of this chapter in the second edition of the textbook. The pathophysiology of hypertrophic cardiomyopathy (HCM) involves several abnormalities that can be assessed using echocardiographic Doppler techniques. Structural and functional derangements include left ventricular (LV) hypertrophy, left ventricular outflow tract obstruction (LVOTO), mitral regurgitation (MR), diastolic dysfunction, and myocardial ischemia. , The majority of…

Pathophysiology and Variants of Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is characterized by the presence of left ventricular (LV) hypertrophy in the absence of another cardiac or systemic etiology. It is a genetic condition with an autosomal dominant inheritance, affecting 1 in 500 individuals of the general population. The commonly used threshold for HCM diagnosis is unexplained maximal wall thickness of 15 mm or greater in one or more myocardial segments or 13…