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American Family Physician Nov 2017The definition and classification of cardiomyopathy have evolved considerably in recent years. Cardiomyopathy can be separated into primary (genetic, mixed, or acquired)... (Review)
Review
The definition and classification of cardiomyopathy have evolved considerably in recent years. Cardiomyopathy can be separated into primary (genetic, mixed, or acquired) and secondary categories, which result in varied phenotypes including dilated, hypertrophic, and restrictive patterns. Hypertrophic cardiomyopathy is the most common primary cardiomyopathy and can cause exertional dyspnea, presyncope, atypical chest pain, heart failure, and sudden cardiac death. Dilated cardiomyopathy can be genetic or acquired and typically presents with classic symptoms of heart failure with reduced ejection fraction. Restrictive cardiomyopathy is much less common and often associated with systemic disease. Family physicians should be alert for acquired variants of cardiomyopathy, including peripartum and stress-induced cardiomyopathy, as well as rare variants, such as arrhythmogenic right ventricular dysplasia and left ventricular noncompaction. In addition to history and physical examination, diagnosis of cardiomyopathy includes electrocardiography and echocardiography testing. Treatment may include appropriately staged therapy for heart failure, appropriate activity restriction, evaluation for implantable cardioverter-defibrillator placement, and consideration of heart transplantation in refractory cases. Genetic testing of families is an emerging modality with some potential to augment traditional screening performed by family physicians.
Topics: Cardiomyopathies; Diagnosis, Differential; Heart; Humans; Risk Factors
PubMed: 29431384
DOI: No ID Found -
Journal of Veterinary Internal Medicine May 2020Cardiomyopathies are a heterogeneous group of myocardial disorders of mostly unknown etiology, and they occur commonly in cats. In some cats, they are well-tolerated and...
Cardiomyopathies are a heterogeneous group of myocardial disorders of mostly unknown etiology, and they occur commonly in cats. In some cats, they are well-tolerated and are associated with normal life expectancy, but in other cats they can result in congestive heart failure, arterial thromboembolism or sudden death. Cardiomyopathy classification in cats can be challenging, and in this consensus statement we outline a classification system based on cardiac structure and function (phenotype). We also introduce a staging system for cardiomyopathy that includes subdivision of cats with subclinical cardiomyopathy into those at low risk of life-threatening complications and those at higher risk. Based on the available literature, we offer recommendations for the approach to diagnosis and staging of cardiomyopathies, as well as for management at each stage.
Topics: Animals; Cardiomyopathies; Cat Diseases; Cats; Consensus; Heart; Practice Guidelines as Topic; Societies, Veterinary
PubMed: 32243654
DOI: 10.1111/jvim.15745 -
European Heart Journal Dec 2022Restrictive cardiomyopathy (RCM) is a heterogeneous group of diseases characterized by restrictive left ventricular pathophysiology, i.e. a rapid rise in ventricular...
Restrictive cardiomyopathy (RCM) is a heterogeneous group of diseases characterized by restrictive left ventricular pathophysiology, i.e. a rapid rise in ventricular pressure with only small increases in filling volume due to increased myocardial stiffness. More precisely, the defining feature of RCM is the coexistence of persistent restrictive pathophysiology, diastolic dysfunction, non-dilated ventricles, and atrial dilatation, regardless of ventricular wall thickness and systolic function. Beyond this shared haemodynamic hallmark, the phenotypic spectrum of RCM is wide. The disorders manifesting as RCM may be classified according to four main disease mechanisms: (i) interstitial fibrosis and intrinsic myocardial dysfunction, (ii) infiltration of extracellular spaces, (iii) accumulation of storage material within cardiomyocytes, or (iv) endomyocardial fibrosis. Many disorders do not show restrictive pathophysiology throughout their natural history, but only at an initial stage (with an evolution towards a hypokinetic and dilated phenotype) or at a terminal stage (often progressing from a hypertrophic phenotype). Furthermore, elements of both hypertrophic and restrictive phenotypes may coexist in some patients, making the classification challenge. Restrictive pathophysiology can be demonstrated by cardiac catheterization or Doppler echocardiography. The specific conditions may usually be diagnosed based on clinical data, 12-lead electrocardiogram, echocardiography, nuclear medicine, or cardiovascular magnetic resonance, but further investigations may be needed, up to endomyocardial biopsy and genetic evaluation. The spectrum of therapies is also wide and heterogeneous, but disease-modifying treatments are available only for cardiac amyloidosis and, partially, for iron overload cardiomyopathy.
Topics: Humans; Cardiomyopathy, Restrictive; Echocardiography, Doppler; Ventricular Dysfunction, Left; Myocardium; Echocardiography
PubMed: 36269634
DOI: 10.1093/eurheartj/ehac543 -
International Journal of Molecular... Jul 2021Cardiomyopathies are a heterogeneous group of pathologies characterized by structural and functional alterations of the heart. (Review)
Review
BACKGROUND
Cardiomyopathies are a heterogeneous group of pathologies characterized by structural and functional alterations of the heart.
AIMS
The purpose of this narrative review is to focus on the most important cardiomyopathies and their epidemiology, diagnosis, and management.
METHODS
Clinical trials were identified by Pubmed until 30 March 2021. The search keywords were "cardiomyopathies, sudden cardiac arrest, dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), restrictive cardiomyopathy, arrhythmogenic cardiomyopathy (ARCV), takotsubo syndrome".
RESULTS
Hypertrophic cardiomyopathy (HCM) is the most common primary cardiomyopathy, with a prevalence of 1:500 persons. Dilated cardiomyopathy (DCM) has a prevalence of 1:2500 and is the leading indication for heart transplantation. Restrictive cardiomyopathy (RCM) is the least common of the major cardiomyopathies, representing 2% to 5% of cases. Arrhythmogenic cardiomyopathy (ARCV) is a pathology characterized by the substitution of the myocardium by fibrofatty tissue. Takotsubo cardiomyopathy is defined as an abrupt onset of left ventricular dysfunction in response to severe emotional or physiologic stress.
CONCLUSION
In particular, it has been reported that HCM is the most important cause of sudden death on the athletic field in the United States. It is needless to say how important it is to know which changes in the heart due to physical activity are normal, and when they are pathological.
Topics: Cardiomyopathies; Cardiomyopathy, Dilated; Cardiomyopathy, Hypertrophic; Death, Sudden, Cardiac; Humans; Myocardium
PubMed: 34299342
DOI: 10.3390/ijms22147722 -
Journal of the American College of... Nov 2016Differentiation of constrictive pericarditis (CP) from restrictive cardiomyopathy (RCM) is a complex and often challenging process. Because CP is a potentially curable... (Review)
Review
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.
Topics: Cardiomyopathy, Restrictive; Diagnosis, Differential; Hemodynamics; Humans; Pericarditis, Constrictive
PubMed: 27884252
DOI: 10.1016/j.jacc.2016.08.050 -
Circulation. Genomic and Precision... Dec 2022The causes of cardiomyopathy in children are less well described than in adults. We evaluated the clinical diagnoses and genetic causes of childhood cardiomyopathy and...
BACKGROUND
The causes of cardiomyopathy in children are less well described than in adults. We evaluated the clinical diagnoses and genetic causes of childhood cardiomyopathy and outcomes of cascade genetic testing in family members.
METHODS
We recruited children from a pediatric cardiology service or genetic heart diseases clinic. We performed Sanger, gene panel, exome or genome sequencing and classified variants for pathogenicity using American College of Molecular Genetics and Genomics guidelines.
RESULTS
Cardiomyopathy was diagnosed in 221 unrelated children aged ≤18 years. Children mostly had hypertrophic cardiomyopathy (n=98, 44%) or dilated cardiomyopathy (n=89, 40%). The highest genetic testing diagnostic yields were in restrictive cardiomyopathy (n=16, 80%) and hypertrophic cardiomyopathy (n=65, 66%), and lowest in dilated cardiomyopathy (n=26, 29%) and left ventricular noncompaction (n=3, 25%). Pathogenic variants were primarily found in genes encoding sarcomere proteins, with and variants associated with more severe clinical outcomes. Ten children (4.5%) had multiple pathogenic variants. Genetic test results prompted review of clinical diagnosis in 14 families with syndromic, mitochondrial or metabolic gene variants. Cascade genetic testing in 127 families confirmed 24 de novo variants, recessive inheritance in 8 families, and supported reclassification of 12 variants.
CONCLUSIONS
Genetic testing of children with cardiomyopathy supports a precise clinical diagnosis, which may inform prognosis.
Topics: Adult; Child; Humans; Cardiomyopathy, Dilated; Cardiomyopathies; Genetic Testing; Cardiomyopathy, Hypertrophic; Heart Diseases
PubMed: 36252119
DOI: 10.1161/CIRCGEN.121.003686 -
Journal of Feline Medicine and Surgery Nov 2021Although feline hypertrophic cardiomyopathy (HCM) occurs more commonly, dilated cardiomyopathy (DCM), restrictive cardiomyopathy (RCM), arrhythmogenic right ventricular...
PRACTICAL RELEVANCE
Although feline hypertrophic cardiomyopathy (HCM) occurs more commonly, dilated cardiomyopathy (DCM), restrictive cardiomyopathy (RCM), arrhythmogenic right ventricular cardiomyopathy (ARVC), left ventricular noncompaction (LVNC) and cardiomyopathy - nonspecific phenotype (NCM; formerly unclassified cardiomyopathy) are all recognized in domestic cats.
PATIENT GROUP
Any adult domestic cat, of either sex and of any breed, can be affected.
DIAGNOSTICS
The non-HCM cardiomyopathies are rarely suspected in subclinically affected cats, so most are first identified when a cat presents with signs of heart failure or systemic thromboembolic disease. The definitive clinical confirmatory test for these other feline cardiomyopathies is echocardiography.
KEY FINDINGS
'Cardiomyopathy - nonspecific phenotype' is a catch-all term that groups hearts with myocardial changes that either do not meet the criteria for any one type of cardiomyopathy (HCM, RCM, DCM, ARVC, LVNC) or meet the echocardiography criteria for more than one type. RCM is characterized by diastolic dysfunction due to fibrosis that results in a restrictive transmitral flow pattern on Doppler echocardiography and usually marked left or biatrial enlargement. DCM is characterized by decreased myocardial contractility and is rare in cats. When it occurs, it is seldom due to taurine deficiency. However, since taurine-deficient DCM is usually reversible, a diet history should be obtained, whole blood and plasma taurine levels should be measured and taurine should be supplemented in the diet if the diet is not commercially manufactured. ARVC should be suspected in adult cats with severe right heart enlargement and right heart failure (ascites and/or pleural effusion), especially if arrhythmia is present. Feline LVNC is rare; its significance continues to be explored. Treatment of the consequences of these cardiomyopathies (management of heart failure, thromboprophylaxis, treatment of systemic arterial thromboembolism) is the same as for HCM.
CONCLUSIONS
While these other cardiomyopathies are less prevalent than HCM in cats, their clinical and radiographic presentation is often indistinguishable from HCM. Echocardiography is usually the only ante-mortem method to determine which type of cardiomyopathy is present. However, since treatment and prognosis are often similar for the feline cardiomyopathies, distinguishing among the cardiomyopathies is often not essential for determining appropriate therapy.
AREAS OF UNCERTAINTY
The feline cardiomyopathies do not always fit into one distinct category. Interrelationships among cardiomyopathies in cats may exist and understanding these relationships in the future might provide critical insights regarding treatment and prognosis.
Topics: Animals; Anticoagulants; Cardiomyopathies; Cardiomyopathy, Hypertrophic; Cat Diseases; Cats; Echocardiography; Venous Thromboembolism
PubMed: 34693805
DOI: 10.1177/1098612X211030218 -
Trends in Cardiovascular Medicine Jan 2018The amyloidoses are a group of systemic diseases characterized by organ deposition of misfolded protein fragments of diverse origins. The natural history of the disease,... (Review)
Review
The amyloidoses are a group of systemic diseases characterized by organ deposition of misfolded protein fragments of diverse origins. The natural history of the disease, involvement of other organs, and treatment options vary significantly based on the protein of origin. In AL amyloidosis, amyloid protein is derived from immunoglobulin light chains, and most often involves the kidneys and the heart. ATTR amyloidosis is categorized as mutant or wild-type depending on the genetic sequence of the transthyretin (TTR) protein produced by the liver. Wild-type ATTR amyloidosis mainly involves the heart, although the reported occurrence of bilateral carpal tunnel syndrome, spinal stenosis and biceps tendon rupture in these patients speaks to more generalized protein deposition. Mutant TTR is marked by cardiac and/or peripheral nervous system involvement. Cardiac involvement is associated with symptoms of heart failure, and dictates the clinical course of the disease. Cardiac amyloidosis can be diagnosed noninvasively by echocardiography, cardiac MRI, or nuclear scintigraphy. Endomyocardial biopsy may be needed in the case of equivocal imaging findings or discordant data. Treatment is aimed at relieving congestive symptoms and targeting the underlying amyloidogenic process. This includes anti-plasma cell therapy in AL amyloidosis, and stabilization of the TTR tetramer or inhibition of TTR protein production in ATTR amyloidosis. Cardiac transplantation can be considered in highly selected patients in tandem with therapy aimed at suppressing the amyloidogenic process, and appears associated with durable long-term survival.
Topics: Amyloid Neuropathies, Familial; Cardiomyopathy, Restrictive; Genetic Markers; Genetic Predisposition to Disease; Humans; Mutation; Phenotype; Predictive Value of Tests; Risk Factors; Treatment Outcome
PubMed: 28739313
DOI: 10.1016/j.tcm.2017.07.004 -
Frontiers in Pediatrics 2021Restrictive cardiomyopathy (RCM) is the least frequent phenotype among pediatric heart muscle diseases, representing only 2.5-3% of all cardiomyopathies diagnosed during... (Review)
Review
Restrictive cardiomyopathy (RCM) is the least frequent phenotype among pediatric heart muscle diseases, representing only 2.5-3% of all cardiomyopathies diagnosed during childhood. Pediatric RCM has a poor prognosis, high incidence of pulmonary hypertension (PH), thromboembolic events, and sudden death, is less amenable to medical or surgical treatment with high mortality rates. In this , heart transplantation remains the only successful therapeutic option. Despite a shared hemodynamic profile, characterized by severe diastolic dysfunction and restrictive ventricular filling, with normal ventricle ejection fraction and wall thickness, RCM recognizes a broad etiological spectrum, consisting of genetic/familial and acquired causes, each of which has a distinct pathophysiology and natural course. Hence, the aim of this review is to cover the causes, clinical presentation, diagnostic evaluation, treatment, and prognosis of pediatric RCM.
PubMed: 35145940
DOI: 10.3389/fped.2021.745365