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Calcification of Vascular Smooth Muscle Cells and Imaging of Aortic Calcification and Inflammation
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Hereditary Disorders of Cardiovascular Calcification

Frank Rutsch1, Insa Buers1, Yvonne Nitschke1

  • 1Department of General Pediatrics, Muenster University Children's Hospital, Germany.

Arteriosclerosis, Thrombosis, and Vascular Biology
|November 12, 2020
PubMed

Insights

Early-onset arterial calcification in young individuals suggests a hereditary disorder. This overview classifies these rare monogenic conditions based on gene function, aiding diagnosis and treatment.

Area of Science:

  • Genetics
  • Cardiovascular Medicine
  • Metabolic Disorders

Background:

  • Arterial calcification is common in elderly, atherosclerosis, renal failure, and diabetes.
  • Early-onset arterial calcification in young individuals indicates a potential hereditary disorder.
  • Monogenic disorders are rare but significant causes of premature cardiovascular calcification.

Purpose of the Study:

  • To provide an overview of monogenic disorders causing early-onset arterial calcification.
  • To classify these disorders based on the function of the affected genes.
  • To emphasize the importance of genetic work-up for early diagnosis and management.

Main Methods:

  • Literature review and synthesis of existing data on monogenic arterial calcification disorders.
  • Classification of disorders based on affected gene pathways: purine/phosphate metabolism, interferonopathies, and Gaucher disease.
  • Clinical presentation and genetic basis of each disorder category were analyzed.

Main Results:

  • Monogenic disorders causing early arterial calcification are rare and can be categorized into three main groups.
  • Group 1: Disorders of altered purine and phosphate/pyrophosphate metabolism.
  • Group 2: Interferonopathies. Group 3: Gaucher disease.

Conclusions:

  • Early-onset arterial calcification necessitates investigation for underlying hereditary conditions.
  • Identifying the specific genetic defect is crucial for accurate diagnosis and targeted therapy.
  • Prompt genetic evaluation can lead to timely intervention and improved patient outcomes.

Keywords:
Gaucher diseasearteriosclerosisdiagnosisinterferonopathiesmetabolismphosphates

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