Compiled consensus on the most important diagnostic modalities and genetic testing tools for the treatment of hypertrophic cardiomyopathy hcm. Hypertrophic cardiomyopathy hcm is a common genetic cardiomyopathy, is present in potentially as many as 1. Imaging of nonischemic cardiomyopathy springerlink. Although hypertrophic cardiomyopathy can generally describe a hypertrophied and nondilated left ventricle due to any cause, this article focuses on hypertrophic cardiomyopathy in the. With the sagittal localizer the coil positioning can be checked. Mri is helpful in visualizing the asymmetric thickening of the interventricular. The relationship between regional wall thickness and function in these patients was studied by three dimensional 3d tagged magnetic resonance imaging mri utilizing the volumeelement approach.
Hypertrophic cardiomyopathy hcm is a common inherited heart disease with diverse phenotypic and genetic expression, clinical presentation, and natural history. Associated right ventricular hypertrophy may be seen in 1517% of cases. Hcmr novel markers of prognosis in hypertrophic cardiomyopathy hcmr the safety and scientific validity of this study is the responsibility of the study sponsor and investigators. From a dedicated orthogonal plane a long axis localizer of the heart is obtained.
The severity of lvot obstruction determines therapy and is an. Jul 15, 2019 investigations into suspected cardiomyopathy generally rely on structural imaging techniques such as echocardiography and cardiac magnetic resonance imaging mri, but tests that are easier to perform such as 12lead electrocardiograms ecgs, blood tests and chest radiographs can be used to support the diagnosis. Hypertrophic cardiomyopathy is characterized by left ventricular hypertrophy wall thickness 1215 mm. Oct 01, 2012 hypertrophic cardiomyopathy hcm is a common genetic cardiovascular disease that affects approximately one out of every 500 persons. Myocardial perfusion imaging in hypertrophic cardiomyopathy.
This new 3rd edition provides an important update on advances in diagnosis, emerging treatment options, and advice for. It is the most common cause of sudden death in young athletes. Myocardial perfusion imaginggated spect images were performed as per the american society of nuclear cardiology guidelines. Hypertrophic cardiomyopathy hcm, the most common genetic cardiomyopathy, is a disease characterised by substantial heterogeneity. Request pdf hypertrophic cardiomyopathy hypertrophic cardiomyopathy hcm is the most common genetic cardiovascular disorder autosomal dominant transmission, with primary involvement. Hypertrophic cardiomyopathy hcm is defined as a diffuse or segmental left ventricular lv hypertrophy with a nondilated and hyperdynamic chamber, in the absence of another cardiac or systemic disease capable of producing the magnitude of hypertrophy that is evident 1,2.
The current and emerging role of cardiovascular magnetic resonance imaging in hypertrophic cardiomyopathy. However, hcm is often a dilemma for clinicians because it manifests with diverse phenotypic expressions and clinical courses. The role of magnetic resonance imaging in hypertrophic. In particular, assessment of cardiomyopathies with mri has been successful owing to its unique ability to depict different enhancement patterns in diseased myocardium on inversion recovery delayed gadoliniumenhanced images. Hypertrophic cardiomyopathy hcm is reported historically as the most common cause of scd in athletes younger than 35 years of age. Asymmetric hypertrophic cardiomyopathy is the most common morphologic variant of this disease. The long axis localizer can be obtained by using the following scan planes methods as pictured below. Hcm results in diastolic heart failure due to impairment of myocardial relaxation during diastole. Listing a study does not mean it has been evaluated by the u.
Describe and illustrate the mr imaging features of each cardiomyopathy 4. Imaging in hypertrophic cardiomyopathy american college. Aug 05, 20 hcmr novel markers of prognosis in hypertrophic cardiomyopathy hcmr the safety and scientific validity of this study is the responsibility of the study sponsor and investigators. The increasing incorporation of multimodality imaging of hypertrophic. Highlight key features which are helpful for the cardiologist and establishing a diagnosis background there are two different classifications for cardiomyopathies. Hypertrophic cardiomyopathy hcm is the most common inherited cardiomyopathy, with frequent features of asymmetric left ventricular hypertrophy, systolic anterior motion of the mitral valve and left ventricular outflow tract obstruction. There are many different pheonotypes ranging from asymmetric to concentric hypertophy of. Significance of magnetic resonance imaging in apical hypertrophic cardiomyopathy. Hypertrophic cardiomyopathy hcm is the most common genetic disease of the heart. It is meant to be a guide for those living with andor caring for those with hypertrophic cardiomyopathy hcm. Hypertrophic cardiomyopathy is a genetic disease characterized by abnormal myocardial hypertrophy, which can lead to a wide clinical spectrum, including sudden cardiac death and heart failure. Imaging in hypertrophic cardiomyopathy american college of. Hypertrophic cardiomyopathy hcm can cause sudden death and this quizworksheet combo will help you test your understanding of how this condition occurs.
Hypertrophic cardiomyopathy an overview sciencedirect. Mr echo can be used for localization of all cardiac scan planes. In figure 1 and 2 a case of hypertrophic cardiomyopathy. Present and explain mri protocols to best optimise imaging of the different cardiomyopathies 3. A guide to hypertrophic cardiomyopathy for patients, their. The aims of this article are to present the main features of mri of cardiomyopathy and to show selected images of cardiomyopathies. Cardiac magnetic resonance imaging value of cardiac cmr. The disease is characterized by left ventricular lv hypertrophy in the absence of another systemic or cardiac disease to account for the changes noted. Myocardial fiber disarray is the pathognomonic abnormality in hypertrophic cardiomyopathy. European association of cardiovascular imaging eacvi, european association of percutaneous cardiovascular. It was published in december 2006 by blackwell futura, and is 128 pages long. Accf and aha update guidelines on the diagnosis and treatment. Apical hypertrophic cardiomyopathy ahcm is an uncommon variant of hypertrophic cardiomyopathy hcm for which detectable sarcomere protein gene mutations could be less prevalent in comparison with other forms of hcm. For patients, their families and interested physicians, second edition isbn.
On the right side deoxygenated blood from the superior and inferior vena cava enter the atrium whilst it is relaxed. Cardiac mri evaluation of hypertrophic cardiomyopathy. A guide to hypertrophic cardiomyopathy for patients. Cardiomyopathy is a frequent reason for cardiac mri evaluation, which is now considered the most appropriate imaging technique for the diagnosis and followup of this wide range of myocardial diseases. This new 3rd edition provides an important update on advances in diagnosis, emerging treatment options, and advice for patients. Lisa salberg, founder of the hypertrophic cardiomyopathy association hcma, and herself an hcm patient.
Mri in the diagnosis of hypertrophic cardiomyopathy. Advances of cardiovascular mri in hypertrophic cardiomyopathy. The heart is a muscular pump that receives deoxygenated blood and propels oxygenated blood to different parts of the body. Hypertrophic cardiomyopathy hcm is a type of cardiomyopathy and is the leading cause of sudden death from arrhythmias in infants, teenagers and young adults. Hypertrophic cardiomyopathy an overview sciencedirect topics. Cardiac mri was performed on a 3 t open bore mr system magnetom verio, siemens medical solutions, erlangen, germany with a dedicated 32 element array coil. The american college of cardiology foundation accf and the. Markedly increased septal thickness is noted, with consequent increased tracer uptake resulting in an apparent fixed defect in the inferolateral wall. Pathophysiology and treatment of hypertrophic cardiomyopathy. The mode of inheritance is autosomal dominant in approximately 5060% of cases with over 600 mutations identified in sarcomeric genes to date. Hypertrophic cardiomyopathy for patients, their families and interested physician. Although the majority of patients with hcm remain asymptomatic with nearnormal longevity, a small, but important, subset remain at risk for a wide range of clinical outcomes including sudden death. Treatment algorithm for hcm hypertrophic cardiomyopathy.
Hypertrophic cardiomyopathy hcm is the mostcommon form of monogenic heart disease, affecting up to 0. Cardiovascular mri is now accepted as a valuable tool in the initial assessment and followup of many acquired and congenital disorders. Magnetic resonance imaging may be useful in selected cases. Hcm is characterized by a wide range of clinical expression, ranging from asymptomatic mutation carriers to sudden cardiac death as the first manifestation of the disease.
Different types include apical, midventricular, concentric, and masslike although the most common is asymmetric septal hypertrophy. In normals, myocytes are arranged in linear parallel arrays. Accf and aha update guidelines on the diagnosis and treatment of hypertrophic cardiomyopathy author. These mutations are thought to cause an increase in myocyte stress and impaired function that eventually leads to left ventricular hypertrophy lvh and fibrosis. Lv morphology and function myocardial fibrosis differential diagnosis cmr should be considered in patients with hcm at their baseline assessment if local resources and expertise permit. Late myocardial enhancement has been associated with myocardial fibrosis and may allow for earlier detection of hypertrophic cardiomyopathy hcm than is currently available with echocardiography and ecg. Hypertrophic cardiomyopathy hcm is a genetic cardiac disease. Topic collections contact me when new articles are published in these topic areas. Myocardial fiber disarray is the pathognomonic abnormality. Cardiac mr imaging of nonischemic cardiomyopathies. Hypertrophic cardiomyopathy hcm is the most common inheritable cardiac disorder, with an estimated prevalence of 1. Hypertrophic cardiomyopathy hcm is the most common monogenic cardiovascular disorder, affecting one of every 500 adults. Myocardial perfusion protocol in an outpatient clinical setting at the smrtbamrr joint meeting.
Hcm has been recognized for 55 years, but recently substantial advances in diagnosis and treatment options have evolved, as well as increased recognition of the disease in clinical practice. In this patient the familiar history was negative, the ecg was doubtful figure 1, the echocardiogram resulted inconclusive due to an inadequate acustic window figure 2, left panel and the mri findings led to the final diagnosis figure 2, right panel. Hypertrophic cardiomyopathy radiology reference article. Contemporary understanding of cardiac morphology in hypertrophic cardiomyopathy hcm is rooted in the keen observations of teare, a british forensic pathologist, who described the presence of left ventricularlv asymmetric hypertrophy, myocardial clefts, fiber disarray and myocardial fibrosis in cases of sudden death in young and apparently healthy adults in the 1950s and 1960s. Recent research demonstrates the incremental utility of cardiac magnetic resonance in the diagnosis, therapeutic planning, and prognostication of this disease. Hypertrophic cardiomyopathy in athletes ecr journal. Hypertrophic cardiomyopathy hcm is a genetically acquired condition that results in hypertrophic myocardium. Its early detection is important because it is the most common cause of sudden cardiac death among young people. Comparison of echocardiographic and cardiac magnetic resonance imaging in hypertrophic cardiomyopathy sarcomere mutation carriers without left ventricular hypertrophy. Magnetic resonance imaging may be of diagnostic value when echocardio.
A diagnosis of hcm may be challenging in athletes as pathological hypertrophy of the left ventricle may also mimic physiological left ventricular hypertrophy lvh in response to exercise. Hcm is inherited as a mendelian autosomal dominant trait and is caused by mutations in one of the. Hypertrophic cardiomyopathy hcm is a disease characterized by hypertrophy of the interventricular septum andor left ventricle, diastolic dysfunction, and in some patients also by systolic obstruction in the left and rarely right outflow tract. The phenotypic expression of hypertrophic cardiomyopathy, which occurs in 1 of every 500 adults in the general population, includes massive hypertrophy involving primarily the. Hypertrophic cardiomyopathy is a genetic cardiac disorder caused by a missense mutation in 1 of at least 10 genes that encode the proteins of the cardiac sarcomere. Accf and aha update guidelines on the diagnosis and. With extensive experience in nuclear cardiology perfusion imaging, she has been able to assist in the technical development of a stress perfusion mri protocol and clinical trials for industry. Hypertrophic cardiomyopathy distribution of lvh 600 patients anterior and inferior septum 31% anterior septum only 25% klues hg, jacc 1995. Jul 26, 2017 hypertrophic cardiomyopathy hcm is reported historically as the most common cause of scd in athletes younger than 35 years of age. It is found across all racial groups and is the most common cause of sudden death in young athletes.
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