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Published on: August 8, 2022
Hypertrophic Cardiomyopathy in the Elderly: A Case Identified With Genetic Screening
Gaspar Del Rio-Pertuz1, Pooja Sethi2, Deephak Swaminath2
1Department of Internal Medicine, Texas Tech University Health Sciences Center, Lubbock, Texas, USA.
Insights
Hypertrophic cardiomyopathy (HCM) is a genetic heart condition. This case highlights that HCM can also affect the elderly, presenting later in life.
Area of Science:
- Cardiology
- Genetics
- Geriatrics
Background:
- Hypertrophic cardiomyopathy (HCM) is an inherited cardiac disease.
- It is caused by mutations in sarcomere genes, affecting heart contractility.
- Typically diagnosed in younger individuals, presenting with syncope or sudden cardiac death.
Observation:
- A case of late-onset HCM in a 73-year-old woman is presented.
- The patient experienced various clinical events leading to diagnosis.
- This highlights the potential for HCM in the elderly population.
Findings:
- HCM can manifest in older adults, challenging typical diagnostic timelines.
- Improved genetic understanding and imaging aid in recognizing late-onset forms.
- Genetic factors and cardiac function in elderly HCM patients warrant further study.
Implications:
- Recognizing late-onset HCM is crucial for accurate diagnosis and management in elderly patients.
- This expands the known clinical spectrum of hypertrophic cardiomyopathy.
- Further research into the genetic and clinical characteristics of elderly HCM is needed.
Abstract:
Hypertrophic cardiomyopathy (HCM) is a hereditary disease with an autosomal dominant pattern of inheritance, that is caused by a mutation in one of several sarcomere genes that encodes components of the contractile system of the heart. Hypertrophic cardiomyopathy has been described as a disease that is more heavily diagnosed in the second decade of life, that may present with abnormal syncopal episodes or sudden cardiac death. However, with a better understanding of the genetic changes that occur in HCM and with improved imaging techniques, there has now been an increased recognition of a late-onset disease that can occur in the elderly population. We report a case of a 73-year-old woman who was found to have HCM after various clinical events took place.
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Genetic Screens
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...

