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Genetic Evaluation of Late-Onset Hypertrophic Cardiomyopathy: An Autobiographical Case Report

Simon Carlo1, Laura F Rodríguez-Fernández2, Fabiola A Benítez Ríos2

  • 1Biochemistry/Pediatrics/Psychiatry, Ponce Health Sciences University, Ponce, PRI.

Cureus
|April 27, 2022
PubMed

Insights

Genetic testing revealed variants in ALPK3 and desmoplakin genes, highlighting the importance of genetic screening for late-onset hypertrophic cardiomyopathy. This case underscores the role of genetic factors in cardiovascular disease etiology.

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Cardiomyopathy is a cardiovascular disease with diverse causes, including genetic mutations.
  • Genetic mutations in sarcomeric proteins are strongly correlated with cardiomyopathy presentation.
  • Late-onset hypertrophic cardiomyopathy can manifest with symptoms like chest pain and palpitations.

Observation:

  • A case report details a personal diagnosis of late-onset hypertrophic cardiomyopathy.
  • Symptoms of chest pain and palpitations were present for approximately two years.
  • The patient, a geneticist, pursued genetic testing upon diagnosis.

Findings:

  • Genetic testing identified a heterozygous variant of uncertain significance (VUS) in the ALPK3 gene (c.399dup).
  • A heterozygous VUS was also found in the desmoplakin (DSP) gene (c.7552G>A).
  • These genetic findings are associated with the patient's hypertrophic cardiomyopathy.

Implications:

  • This case emphasizes the critical role of genetic screening in identifying the etiology of cardiomyopathy.
  • Understanding genetic variants in genes like ALPK3 and DSP is crucial for diagnosing and managing cardiovascular diseases.
  • Autobiographical case reports can illuminate the clinical significance of genetic testing in personalized medicine.

Keywords:
autobiographical case reportcardiomyopathygeneticshypertrophic cardiomyopathylate onset

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