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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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Arrhythmogenic cardiomyopathy.

Kalliopi Pilichou1, Gaetano Thiene1, Barbara Bauce1

  • 1Department of Cardiac, Thoracic and Vascular Sciences, University of Padua, Padua, Italy.

Orphanet Journal of Rare Diseases
|April 4, 2016
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Summary
This summary is machine-generated.

Arrhythmogenic cardiomyopathy (AC) is a rare genetic heart disease causing dangerous arrhythmias and sudden death. Early diagnosis and management, including sport disqualification, are crucial for patient outcomes.

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Area of Science:

  • Cardiology
  • Genetics
  • Pathology

Background:

  • Arrhythmogenic cardiomyopathy (AC) is a rare inherited heart muscle disease affecting 1:2000-1:5000 individuals.
  • Pathologically, AC involves progressive fibro-fatty replacement of the ventricular myocardium.
  • It is a leading cause of sudden cardiac death in young individuals and athletes.

Purpose of the Study:

  • To review current knowledge on arrhythmogenic cardiomyopathy (AC).
  • To provide a diagnostic and management flowchart for clinicians and geneticists.
  • To highlight recent updates in diagnostic criteria and therapeutic strategies.

Main Methods:

  • Review of current literature on arrhythmogenic cardiomyopathy (AC).
  • Analysis of diagnostic criteria, including cardiac magnetic resonance imaging.
  • Evaluation of genetic testing, risk stratification, and therapeutic options.

Main Results:

  • AC diagnosis relies on combining multiple data categories, with updated criteria for improved sensitivity and specificity.
  • Genetic testing aids in identifying asymptomatic carriers through cascade screening.
  • Contrast-enhanced cardiac magnetic resonance imaging is vital for detecting early AC, including left-dominant forms.

Conclusions:

  • AC is a significant cause of sudden death, necessitating early diagnosis and intervention.
  • Management involves risk stratification, antiarrhythmic drugs, ablation, ICDs, and sport disqualification.
  • Understanding genetic underpinnings and diagnostic advancements is key to improving patient outcomes.