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"Personal heart irregularity following chest impact accident."

About: Ninewells Hospital / Clinical Genetics Perth Royal Infirmary / Accident & Emergency

(as a service user),

Bi gemini rythem resulted from a cycling accident, which was thoroughly checked with follow up Echo screening.

Aside to this, there is a familial TTN defect confirmed in many of my mother's side of the family.

I was referred for testing which has come back positive as a defective TTN carrier.

However, as my diagnostic results are of hypertrophic cardiomyopathy, further screening was carried out to check for known gene abnormalities that manifest as hypertrophic. These tests showed negative to known gene defects that lead to HCM.

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Responses

Response from Kirsten Henderson, Genetic Counsellor, Clinical Genetics, NHS Tayside 4 months ago
Kirsten Henderson
Genetic Counsellor, Clinical Genetics,
NHS Tayside
Submitted on 16/01/2025 at 14:47
Published on Care Opinion at 14:47


I hope your experience with clinical genetics and screening has been a positive one. Please feel free to contact us directly if you have any further questions or if a conversation to clarify things would be useful. Thank you.

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