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Update on the Diagnostic Pitfalls of Autopsy and Post-Mortem Genetic Testing in Cardiomyopathies

Simone Grassi1, Oscar Campuzano2,3,4, Mònica Coll2,3,4

  • 1Department of Health Surveillance and Bioethics, Section of Legal Medicine, Fondazione Policlinico A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.

International Journal of Molecular Sciences
|April 30, 2021
PubMed

Insights

Inherited cardiomyopathies can cause sudden cardiac death (SCD) in young individuals. This review clarifies diagnostic challenges and differential diagnoses for cardiomyopathies, including post-mortem genetic testing applications.

Area of Science:

  • Cardiovascular Pathology
  • Genetics
  • Forensic Medicine

Background:

  • Inherited cardiomyopathies are a leading cause of sudden cardiac death (SCD) in young patients.
  • Subtle or ambiguous phenotypes can lead to misdiagnosis or missed diagnoses of these conditions.
  • Autopsy findings, while often distinctive, require careful interpretation in the context of differential diagnoses.

Purpose of the Study:

  • To review the primary differential diagnoses for hypertrophic, arrhythmogenic, and dilated cardiomyopathies.
  • To analyze diagnostic challenges in SCD victims with phenotype-negative hypertrophic cardiomyopathy.
  • To discuss the utility and limitations of virtopsy and post-mortem genetic testing in diagnosing inherited cardiomyopathies.

Main Methods:

  • Literature review focusing on differential diagnoses of inherited cardiomyopathies.
  • Analysis of diagnostic issues in sudden cardiac death cases.
  • Evaluation of virtopsy and post-mortem genetic testing in cardiovascular pathology.

Main Results:

  • Key differential diagnoses for hypertrophic cardiomyopathy (athlete's heart, idiopathic left ventricular hypertrophy), arrhythmogenic cardiomyopathy (adipositas cordis, myocarditis), and dilated cardiomyopathy (acquired forms, left ventricular noncompaction) are presented.
  • Diagnostic complexities in phenotype-negative hypertrophic cardiomyopathy and the link with myocardial bridging are examined.
  • The applications and limitations of virtopsy and post-mortem genetic testing, including variant significance assessment, are discussed.

Conclusions:

  • Accurate diagnosis of inherited cardiomyopathies, even with ambiguous phenotypes, is crucial for identifying causes of sudden cardiac death.
  • Post-mortem genetic testing and advanced imaging techniques like virtopsy offer valuable tools but require careful interpretation.
  • Distinguishing inherited cardiomyopathies from mimics is essential for accurate forensic and clinical pathology assessments.

Keywords:
cardiomyopathiesforensic autopsypost-mortem genetic testingsudden cardiac deathvirtopsy

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