Cardiomyopathy

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Cardiomyopathy
Opened left ventricle of heart shows a thickened, dilated left ventricle with subendocardial fibrosis manifested as increased whiteness of endocardium {Autopsy findings}. Image courtesy of Professor Peter Anderson DVM PhD and published with permission © PEIR, University of Alabama at Birmingham, Department of Pathology

Cardiomyopathy Microchapters
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Patient Information
Overview
Historical Perspective
Classification
Pathophysiology
Causes
Differentiating Cardiomyopathy from other Diseases
Epidemiology and Demographics
Risk Factors
Natural History, Complications and Prognosis
Diagnosis
History and Symptoms
Physical Examination
Laboratory Findings
Electrocardiogram
Chest X Ray
CT
MRI
Echocardiography
Other Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Primary Prevention
Secondary Prevention
Cost-Effectiveness of Therapy
Future or Investigational Therapies
Guidelines
2023 ESC Guideline Recommendations
2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy
Case Studies
Case #1
Cardiomyopathy On the Web
Most recent articles
Most cited articles
Review articles
CME Programs
Powerpoint slides
Images
American Roentgen Ray Society Images of Cardiomyopathy All Images X-rays Echo & Ultrasound CT Images MRI
Ongoing Trials at Clinical Trials.gov
US National Guidelines Clearinghouse
NICE Guidance
FDA on Cardiomyopathy
CDC on Cardiomyopathy
Cardiomyopathy in the news
Blogs on Cardiomyopathy
Directions to Hospitals Treating Cardiomyopathy
Risk calculators and risk factors for Cardiomyopathy

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Lina Ya'qoub,MD; Mahshid Mir, M.D. [2], Cafer Zorkun, M.D., Ph.D. [3], Raviteja Guddeti, M.B.B.S. [4]; Edzel Lorraine Co, DMD, MD[5]

Synonyms and keywords: Myocardiopathy; cardiac muscle disease; heart muscle disease.

Diagnosis

History and Symptoms | Physical Examination | Laboratory Findings | Electrocardiogram | Chest X Ray | CT | MRI | Echocardiography | Other Imaging Findings | Other Diagnostic Studies

Treatment

Medical Therapy | Surgery | Primary Prevention | Secondary Prevention | Cost-Effectiveness of Therapy | Future or Investigational Therapies

2023 ESC Guideline Recommendations

Recommendations for the Provision of Service of Multidisciplinary Cardiomyopathy Teams.

Class I	Level of Evidence
1. It is recommended that all patients with cardiomyopathy and their relatives have access to multidisciplinary teams with expertise in the diagnosis and management of cardiomyopathies.	C
2. Timely and adequate preparation for transition of care from pediatric to adult services, including joint consultations, is recommended in all adolescents with cardiomyopathy.	C

Recommendations for Diagnostic Work-up in Cardiomyopathies.

Class I	Level of Evidence
1. It is recommended that all patients with suspected or established cardiomyopathy undergo systematic evaluation using a multiparametric approach that includes clinical evaluation, pedigree analysis, ECG, Holter monitoring, laboratory tests, and multimodality imaging.	C
2. It is recommended that all patients with suspected cardiomyopathy undergo evaluation of family history and that a three- to four-generation family tree is created to aid in diagnosis, provide clues to underlying etiology, determine inheritance pattern, and identify at- risk relatives	C

Recommendations for Laboratory Tests in the Diagnosis of Cardiomyopathies.

Class I	Level of Evidence
1. Routine (first-level) laboratory tests are recommended in all patients with suspected or confirmed cardiomyopathy to evaluate etiology, assess disease severity, and aid in detection of extra-cardiac manifestations and assessment of secondary organ dysfunction.	C

Recommendations for Echocardiographic Evaluation in Patients with Cardiomyopathies.

Class I	Level of Evidence
1. A comprehensive evaluation of cardiac dimensions and LV and RV systolic (global and regional) and LV diastolic function is recommended in all patients with cardiomyopathy at initial evaluation, and during follow-up, to monitor disease progression and aid risk stratification and management.	B

Recommendations for Cardiac Magnetic Resonance Indication in Patients with Cardiomyopathies.

Class I	Level of Evidence
1. Contrast-enhanced CMR is recommended in patients with cardiomyopathy at initial evaluation.	B

Recommendations for Computed Tomography and Nuclear Imaging

Class I	Level of Evidence
1. DPD/PYP/HMDP bone-tracer scintigraphy is recommended in patients with suspected ATTR-related cardiac amyloidosis to aid diagnosis.	B

Recommendations for Genetic Counselling and Testing in Cardiomyopathies.

Genetic Counselling
Class I	Level of Evidence
1. Genetic counselling, provided by an appropriately trained healthcare professional and including genetic education to inform decision-making and psychosocial support, is recommended for families with an inherited or suspected inherited cardiomyopathy, regardless of whether genetic testing is being considered.	B
2. It is recommended that genetic testing for cardiomyopathy is performed with access to a multidisciplinary team, including those with expertise in genetic testing methodology, sequence variant interpretation, and clinical application of genetic testing, typically in a specialized cardiomyopathy service or in a network model with access to equivalent expertise.	B
3. Pre- and post-test genetic counselling is recommended in all individuals undergoing genetic testing for cardiomyopathy.	C
Index Patients
Class I	Level of Evidence
1.Genetic testing is recommended in patients fulfilling diagnostic criteria for cardiomyopathy in cases where it enables diagnosis, prognostication], therapeutic stratification, or reproductive management of the patient, or where it enables cascade genetic evaluation of their relatives who would otherwise be enrolled into long-term surveillance.	B
2. Genetic testing is recommended for a deceased individual identified to have cardiomyopathy at post-mortem if a genetic diagnosis would facilitate management of surviving relatives.	c
Family Members
Class I	Level of Evidence
1. It is recommended that cascade genetic testing, with pre- and post-test counselling, is offered to adult at-risk relatives if a confident genetic diagnosis (i.e. a P/LP variant) has been established in an individual with cardiomyopathy in the family (starting with first-degree relatives if available, and cascading out sequentially).	B
Class III	Level of Evidence
2. Diagnostic genetic testing is not recommended in a phenotype-negative relative of a patient with cardiomyopathy in the absence of a confident genetic diagnosis (i.e. a P/LP variant) in the family.	C

Case Studies

Case #1