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Genetic Counseling in Cardiomyopathy: Insights and Case Study

This summary outlines the role of a genetic counselor specializing in structural cardiomyopathy at Johns Hopkins Outpatient Center. It highlights various types of cardiomyopathy, such as dilated and hypertrophic, and the process of patient referral and genetic testing. A case study of a 34-year-old female with dilated cardiomyopathy is discussed, emphasizing the implications for her family, including the risks for her twins. The summary notes challenges in genetic testing efficacy and the importance of continual learning as science evolves.

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Genetic Counseling in Cardiomyopathy: Insights and Case Study

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  1. Genetics Experience Summary NR.110.521A- CNS II July, 2013 Tania Randell, RN-BC, BSN

  2. Location & Focus  • Johns Hopkins Outpatient Center Cardiology Clinic • Genetic Counselor sees patients with various types of structural Cardiomyopathy (CM) • ARVD • Dilated • Hypertrophic • Restrictive • Non-compaction • Amyloid

  3. Typical Patients • Patients are referred by their Cardiologist who specializes in Cardiomyopathy • Genetic counselor works for this physician • If interested- • Initial phone call • Pedigree is done by email • Initial interview & description of testing • If patient agrees to Pan CM Panel, they return for explanation of results

  4. Case Study • 34 y/o AA Female diagnosed w/ Dilated CM @ 29 • Pregnant with twins (induce 12 wks early) • 10 siblings, Sister w/ CM • Other relatives- disease processes and deaths that are now questionable (strokes, “accident”) • Babies have 50% chance of developing CM • Testing only 20-30% chance of getting a definitive explanation for the CM

  5. Implications for APNs • Baseline knowledge of genetic testing • Referral information • Who is appropriate for referral • Collaborate w/ MDs

  6. Insights… • Races other than Caucasian and African American have a small pool (need more participants-what’s normal for their group) • Even when mutations are identified, only handful of results change treatment (ICD, frequent Echoes) • Most people do testing to help their families • Families w/ a great deal of disease are best to study (can find links between their genes) • Return yearly (science is developing rapidly)

  7. Reference Baxter S., Cirino, A, Funke, B., Ho, C., Hernandez A.L., Rehm,H., Seidman, C., & Seidman, J. (2013). Genetic Basis of Cardiomyopathy: A Guide for Patients and Families. Harvard Medical School Laboratory for Molecular Medicine, Cambridge, MA.

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