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Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
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Systolic Heart Failure and Compensatory MechanismsSystolic heart failure (also termed HFrEF, Heart Failure with Reduced Ejection Fraction) is the most prevalent type of heart filure. It results in a decreased volume of blood being pumped from the ventricle. The aortic arch and carotid sinuses have baroreceptors that detect reduced blood pressure, triggering the sympathetic nervous system (SNS) to release epinephrine and norepinephrine. Initially, this response aims to boost heart rate and...
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Dilated cardiomyopathy, or DCM, is a progressive myocardial disorder characterized by ventricular chamber dilation and contractile dysfunction.EtiologyVarious factors can cause DCM, including hypertension and heavy alcohol intake, which contribute to the weakening and enlargement of the heart muscle. Viral infections, such as Coxsackievirus B, adenoviruses, and influenza, can lead to DCM by causing inflammation and damage to heart tissue. Certain chemotherapeutic agents, including daunorubicin,...
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The heart's primary function is to pump blood throughout the body, maintaining a balance between blood sent out (cardiac output) and blood returning (venous return). If this balance is disrupted, it can result in congestive heart failure (CHF), a severe condition where the heart becomes an inefficient pump, leading to inadequate blood circulation.
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Aortic valve regurgitation (AR) occurs when the aortic valve fails to close properly, allowing blood to flow backward from the aorta into the left ventricle. This backflow can result in two distinct clinical presentations: acute and chronic AR, each characterized by its own set of symptoms and physical findings.Acute Aortic RegurgitationAcute AR presents with a sudden onset of severe symptoms. Patients typically experience profound dyspnea (shortness of breath), chest pain, and signs of left...
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Cardiomyopathy, or CMP, is a group of diseases affecting the myocardial structure, impairing its ability to pump blood effectively. This condition can lead to arrhythmias, heart failure, or sudden cardiac death.Cardiomyopathies are classified into primary and secondary categories:Primary Cardiomyopathy refers to conditions involving only the heart muscle that are often idiopathic (of unknown cause) or genetic. They primarily affect the myocardium without the involvement of other systemic...
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Echocardiographic and Histological Examination of Cardiac Morphology in the Mouse
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Cardiac hypertrophy at autopsy.

Cristina Basso1, Katarzyna Michaud2, Giulia d'Amati3

  • 1Cardiovascular Pathology Unit, Department of Cardiac, Thoracic and Vascular Sciences and Public Health, University of Padua, Padua, Italy. cristina.basso@unipd.it.

Virchows Archiv : an International Journal of Pathology
|March 19, 2021
PubMed
Summary

Standardized methods are crucial for assessing cardiac hypertrophy during autopsy. This involves uniform terminology, measurements, and reference values for accurate diagnosis and understanding its role in sudden cardiac death.

Keywords:
AutopsyCardiovascular diseasesDiagnostic criteriaHypertrophyQuality in pathology

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Area of Science:

  • Cardiovascular Pathology
  • Forensic Pathology

Background:

  • Cardiac hypertrophy is a significant factor in autopsy findings and mortality.
  • Current autopsy practices lack uniform terminology and methodology for assessing cardiac hypertrophy.
  • Standardized diagnostic criteria are essential for accurate interpretation of heart pathology.

Purpose of the Study:

  • To establish unified recommendations for the assessment of cardiac hypertrophy in autopsies.
  • To define standardized terminology, measurement techniques, and reference values for heart weight, size, and thickness.
  • To guide the diagnostic workup for various causes of cardiac hypertrophy, including overload conditions and cardiomyopathies.

Main Methods:

  • Development of consensus-based recommendations by the Association for European Cardiovascular Pathology.
  • Emphasis on systematic gross morphologic examination of the heart.
  • Integration of histologic analysis, immunostaining, and transmission electron microscopy for definitive diagnosis.
  • Recommendations for seeking expert consultation and utilizing postmortem genetic testing.

Main Results:

  • Proposed standardized terminology and methodology for measuring heart weight, size, and thickness.
  • Defined age, gender, and body size-specific cutoff values for normality.
  • Outlined a diagnostic pathway for identifying causes of cardiac hypertrophy.
  • Highlighted the importance of expert second opinions and advanced diagnostic techniques.

Conclusions:

  • Standardized assessment of cardiac hypertrophy is vital for accurate autopsy interpretation and understanding its role in mortality.
  • The recommendations provide a framework for consistent diagnosis across different pathology services.
  • Multidisciplinary approaches, including genetic testing, enhance the evaluation of sudden cardiac death cases involving cardiac hypertrophy.