Case 2
Video consultation following incidental genomic finding of MYH7 pathogenic variant associated with hypertrophic cardiomyopathy. Asymptomatic but anxious. Requests urgent clarification and referral.
Participated in research genetic screening for familial hypercholesterolaemia. No prior cardiology assessment beyond lipid monitoring. No echocardiogram performed previously. No known murmurs documented. Two children aged 14 and 16.
Examination performed 1 week ago by Nurse Daniel Roberts, Practice Nurse. Observations: BP 126/78 mmHg, pulse 74 regular. Cardiovascular examination: normal heart sounds, no murmurs detected on auscultation in primary care setting. No peripheral oedema. Oxygen saturation 98% on room air. Patient appeared anxious but not in distress. No ECG performed in practice.
You are a 42-year-old man attending a scheduled video consultation to discuss an incidental finding from genomic testing performed as part of a cardiology research study. Six months ago, you were enrolled in a research programme investigating familial hypercholesterolaemia because of elevated cholesterol levels. You were recently informed by letter that an incidental pathogenic variant in the MYH7 gene associated with hypertrophic cardiomyopathy (HCM) was identified. You were advised to contact your GP to discuss next steps.
You are not currently experiencing chest pain, syncope, or palpitations. However, you do report occasional mild exertional breathlessness when climbing stairs, which you previously attributed to being unfit. No episodes of fainting. No documented arrhythmias. No known heart murmur. No lower limb swelling.
There is no known family history of sudden cardiac death. Your father died at 68 from a myocardial infarction. No known cardiomyopathy diagnoses in the family. You have two teenage children and are extremely concerned about what this means for them.
You are confused and distressed because you were not expecting this result and do not fully understand its implications. You are worried about sudden cardiac death and whether you should stop exercising immediately. You have read online that HCM can cause collapse during sports and are now fearful of physical activity.
You feel anxious that the NHS did not contact you proactively and you are unsure who is responsible for follow-up. You want clear answers about your own risk, your children’s risk, insurance implications, and whether you need immediate specialist assessment.
Since receiving the letter, you have reduced your physical activity and stopped attending the gym. You are preoccupied with thoughts about your heart and feel distracted at work. Sleep is disturbed by worry about sudden death. Your partner is concerned but trying to reassure you. You feel uncertain and lack confidence about what to do next.
You believe you may be at imminent risk of sudden cardiac death.
You are concerned that you could collapse unexpectedly. You are worried about your children inheriting the condition. You also want to know whether this affects life insurance and driving. If the GP appears uncertain or minimises the finding, you become more anxious.
You expect urgent cardiology referral and detailed explanation of the condition. If provided with a structured explanation about incidental findings, penetrance, need for confirmatory clinical evaluation, and referral pathways, you will feel reassured but still require clear next steps.
You deny syncope, presyncope, significant palpitations, chest pain, orthopnoea, paroxysmal nocturnal dyspnoea, or lower limb oedema. No known episodes of collapse. No occupational heavy physical exertion beyond moderate gym exercise. No stimulant drug use.
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Recognising the significance of incidental genomic findings and arranging appropriate cardiology assessment for possible hypertrophic cardiomyopathy.
Genomic Medicine; Care of People with Cardiovascular Problems.
Managing psychological distress after unexpected genetic testing results using clear explanation, reassurance and safety-netting.
Person-Centred Care; Consultation and Communication Skills.
Discussing inherited risk, genetic counselling and implications for family members in suspected hereditary cardiac disease.
Genomic Medicine; Working with Families and Carers.
