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Restrictive cardiomyopathies are the least common form of heart muscle disease. They are characterized as infiltrative and noninfiltrative, storage diseases, and endomyocardial disorders. Genetic diseases commonly present during childhood or adolescence. However, a growing percentage of elderly patients with heart failure with preserved ejection fraction are being recognized as having forms of restrictive cardiomyopathy, particularly cardiac amyloidosis. Noninvasive evaluation has replaced endomyocardial biopsy in the diagnostic evaluation of most suspected etiologies. The detection of infiltrative cardiomyopathies, particularly primary and secondary forms of iron overload, as well as inflammatory diseases such as sarcoidosis has slowly led to improved outcomes via disease-specific therapies., (Copyright © 2018 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.)

Restrictive cardiomyopathies are the least common form of heart muscle disease. They are characterized as infiltrative and noninfiltrative, storage diseases, and endomyocardial disorders. Genetic diseases commonly present during childhood or adolescence. However, a growing percentage of elderly patients with heart failure with preserved ejection fraction are being recognized as having forms of restrictive cardiomyopathy, particularly cardiac amyloidosis. Noninvasive evaluation has replaced endomyocardial biopsy in the diagnostic evaluation of most suspected etiologies. The detection of infiltrative cardiomyopathies, including lysosomal and glycogen storage disorders, iron overload, and amyloidosis (both light chain amyloidosis and transthyretin amyloidosis variants), as well as inflammatory diseases such as sarcoidosis has slowly led to improved outcomes via disease-specific therapies., (Copyright © 2018 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.)

Differentiation of constrictive pericarditis (CP) from restrictive cardiomyopathy (RCM) is a complex and often challenging process. Because CP is a potentially curable cause of heart failure and therapeutic options for RCM are limited, distinction of these 2 conditions is critical. Although different in regard to etiology, prognosis, and treatment, CP and RCM share a common clinical presentation of predominantly right-sided heart failure, in the absence of significant left ventricular systolic dysfunction or valve disease, due to impaired ventricular diastolic filling. Fundamental to the diagnosis of either condition is a clear understanding of the underlying hemodynamic principles and pathophysiology. We present a contemporary review of the pathophysiology, hemodynamics, diagnostic assessment, and therapeutic approach to patients presenting with CP and RCM., (Copyright © 2016 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.)

About one-half of the patients with congestive heart failure have preserved left ventricular ejection fraction (HFpEF). Although the etiology of HFpEF is most commonly related to long-standing hypertension and atherosclerosis, a significant number of suspected HFpEF patients have a restrictive cardiomyopathy or chronic pericardial disease. Recognizing these syndromes is important because early diagnosis may lead to instituting specific therapy that may prolong survival, improve quality of life, and/or recognize and treat an underlying systemic disorder. Advances in diagnostic imaging, biomarkers, and genetic testing today allow identification of the specific etiology in most cases. Novel pharmacological, immunologic, and surgical therapies are leading to improved quality of life and survival., (Copyright © 2016 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.)

Objectives: This study sought to determine the clinical utility of a new catheterization criterion for the diagnosis of constrictive pericarditis (CP)., Background: The finding of early rapid filling and equalization of end-diastolic pressures obtained by cardiac catheterization are necessary for the diagnosis of CP, but these findings are also present in patients with restrictive myocardial disease (RMD). Enhanced ventricular interaction is unique to CP., Methods: High-fidelity intracardiac pressure waveforms from 100 consecutive patients undergoing hemodynamic catheterization for diagnosis of CP versus RMD were examined. Fifty-nine patients had surgically documented CP and comprised group 1; the remaining 41 patients with RMD comprised group 2. The ratio of the right ventricular to left ventricular systolic pressure-time area during inspiration versus expiration (systolic area index) was used as a measurement of enhanced ventricular interaction., Results: There were statistically significant differences in the conventional catheterization criteria between CP and RMD, but the predictive accuracy of any of the criteria was <75%. The systolic area index had a sensitivity of 97% and a predictive accuracy of 100% for the identification of patients with surgically proven CP., Conclusions: The ratio of right ventricular to left ventricular systolic area during inspiration and expiration is a reliable catheterization criterion for differentiating CP from RMD, which incorporates the concept of enhanced ventricular interdependence.

Objectives: The purpose of this study was to determine the prevalence, clinical significance, and genetic basis of hypertrophic cardiomyopathy (HCM) with "restrictive phenotype" characterized by restrictive filling and minimal or no left ventricular hypertrophy., Background: Hypertrophic cardiomyopathy is a heterogeneous myocardial disorder with a broad spectrum of clinical presentation and morphologic features. Recent reports indicated that some patients with restrictive cardiomyopathy, which is an uncommon condition defined by restrictive filling and reduced diastolic volumes with normal or near normal left ventricular wall thickness and contractile function, have features suggestive of HCM with mutations in cardiac troponin I, myocyte disarray at explant/autopsy, and relatives with HCM. Systematic evaluation of the restrictive phenotype in HCM patients has not been performed., Methods: We evaluated 1,226 patients from 688 consecutive HCM families to identify individuals who fulfilled diagnostic criteria for "restrictive phenotype.", Results: Nineteen of 1,226 affected individuals (1.5%) from 16 families (2.3%) had the "restrictive phenotype." During follow up (53.7 +/- 49.2 months), 17 patients (89%) experienced dyspnea (New York Heart Association functional class > or =2). The 5-year survival rate from all-cause mortality, cardiac transplantation, or implantable cardioverter-defibrillator discharge was 56.4%. Mutation analysis for 5 sarcomere genes was feasible in 15 of 16 probands. Mutations were found in 8: 4 in beta-myosin heavy chain, and 4 in cardiac troponin I., Conclusions: The "restrictive phenotype" in isolation is an uncommon presentation of the clinical spectrum of HCM and is associated with severe limitation and poor prognosis. This phenotype may be associated with beta-myosin heavy chain and cardiac troponin I mutations.

Objectives: We sought to determine the usefulness of brain natriuretic peptide (BNP) measurements to differentiate constrictive pericarditis (CP) from restrictive cardiomyopathy (RCMP)., Background: The differentiation of CP from RCMP may be clinically difficult and often requires hemodynamic assessment. No laboratory marker has been shown to differentiate the two conditions., Methods: We measured BNP levels in 11 patients suspected of having either CP or RCMP. All patients had hemodynamic assessment the day of BNP measurements., Results: Six patients had CP and five patients had RCMP based on established hemodynamic criteria. Both CP and RCMP patients had similar elevation in intracardiac pressures. Despite similar pressures, the mean plasma BNP levels were significantly higher in RCMP compared to CP (825.8 +/- 172.2 pg/ml vs. 128.0 +/- 52.7 pg/ml, p < 0.001, respectively)., Conclusions: The BNP levels are significantly elevated in RCMP compared to CP patients; BNP may prove to be a useful noninvasive marker for the differentiation of the two conditions.

Twenty-four patients with restrictive cardiomyopathy were identified at St. Thomas' Hospital during a 17-year period. All had endomyocardial biopsy, but in two patients the biopsy specimens were small and nondiagnostic. Seven patients had amyloidosis and five had other specific heart muscle diseases. The remaining 10 patients with primary restrictive cardiomyopathy had myocyte hypertrophy or interstitial fibrosis, or both. Patients with primary restrictive cardiomyopathy presented earlier but survived longer after presentation than did those with amyloidosis. In each group, survival after cardiac catheterization was related to cardiac index but not to filling pressures. Primary restrictive cardiomyopathy was associated with complete heart block in four patients, two of whom had skeletal myopathy. One had a family history of dominantly inherited skeletal myopathy. Primary restrictive cardiomyopathy was present in a mother and daughter. Two other patients had a family history of heart failure, sudden death or complete heart block, alone or in combination, at a young age. Restrictive hemodynamics and complete heart block were present in patients even in the absence of significant fibrosis. The data suggest that primary restrictive cardiomyopathy may be a distinct myopathy with dominant inheritance and incomplete penetrance that is expressed morphologically as myocyte hypertrophy and interstitial fibrosis. Skeletal myopathy may be associated with the cardiomyopathy.

Diastolic filling variables were studied in 12 patients with the hemodynamic features of constriction, of whom 5 had restrictive cardiomyopathy, 5 had pericardial constriction and 2 had combined pericardial constriction and restrictive cardiomyopathy. The values were compared with those in 10 normal subjects of comparable age. The filling fractions between 10% and 70% of the diastolic time interval were greater in patients with pericardial constriction than in those with restrictive cardiomyopathy (p less than 0.01 between 20% and 50%, p less than 0.05 at 10%, 60% and 70%), with no overlap. The filling fractions in patients with pericardial constriction were also greater than those in normal subjects between 10% and 60% of the diastolic time interval. The filling fraction was lower in patients with restrictive cardiomyopathy than in normal subjects at 40% of the diastolic time interval (p less than 0.05). The time to peak filling rate in patients with pericardial constriction was shorter (110 +/- 14 ms) than in those with restrictive cardiomyopathy (195 +/- 45 ms, p less than 0.01) or in normal subjects (173 +/- 32 ms, p less than 0.01). The percent of atrial contribution to left ventricular filling was higher in those with restrictive cardiomyopathy (45 +/- 17%) than in those with pericardial constriction (21 +/- 6%, p less than 0.05) or in normal subjects (24 +/- 9%, p less than 0.01).(ABSTRACT TRUNCATED AT 250 WORDS)