Family History of Heart Disease? Understanding Your Inherited Risk

If a close relative has died suddenly from a heart problem, been diagnosed with an inherited heart condition, or had a heart attack at a young age, it’s reasonable to ask whether you, or your children, could be at risk too. This page explains when family history matters, which conditions run in families, what a specialist assessment actually involves, and the different types of testing available, including genetic testing, through my clinic here in Dorset.

About this service

I’m Dr Chris Critoph, a Consultant Cardiologist based in Bournemouth. I lead the Inherited Cardiac Conditions service for the whole of Dorset, and my medical research degree at University College London focused specifically on genetically inherited heart disease. This is a subspecialty within cardiology in its own right; most general cardiologists don’t have dedicated training or an ongoing NHS caseload in it, and outside the major London or large tertiary centres, dedicated inherited cardiac conditions clinics like this one are unusual.

When should family history prompt you to get checked?

Not every relative with heart disease means your risk is inherited; most heart disease is not. But certain patterns are worth taking seriously and having properly assessed, rather than guessed at:

• A parent, sibling or child has died suddenly and unexpectedly, particularly under the age of 60 — especially if no clear cause was found, or the death was put down to “a massive heart attack” in someone without the usual risk factors
• A close relative has been diagnosed with a cardiomyopathy (a disease of the heart muscle), an inherited heart rhythm condition such as Long QT syndrome or Brugada syndrome, or familial hypercholesterolaemia (a specific, strongly inherited form of high cholesterol)
• You’ve had an unexplained blackout or collapse, a seizure that was later questioned as possibly cardiac rather than epileptic, or a resuscitated cardiac arrest
• Several relatives on the same side of the family have had heart attacks or been diagnosed with heart disease at a young age (as a rough guide, under 55 for men and under 65 for women)
• A relative’s post-mortem identified an inherited heart condition, or genetic testing elsewhere in the family has already identified a specific gene variant
• There is a history of pacemaker implantation at a young age, or heart transplantation

Conditions we assess

Inherited heart disease covers a number of distinct conditions. In plain terms:

Cardiomyopathies

Diseases of the heart muscle itself, where it becomes abnormally thick (hypertrophic cardiomyopathy), enlarged and weakened (dilated cardiomyopathy), or affected in ways that disrupt normal heart rhythm (including arrhythmogenic right ventricular cardiomyopathy, or ARVC). These can run strongly in families and are a common finding when a young or otherwise fit person is found to have unexplained heart problems.

Inherited arrhythmia syndromes

Conditions such as Long QT syndrome, Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia (CPVT) affect the heart’s electrical system rather than its structure — the heart can look entirely normal on a standard scan, but carry a genuine, sometimes serious, inherited risk of dangerous rhythm disturbances. These are a common explanation when a young, apparently healthy person has an unexplained collapse or cardiac arrest.

Familial hypercholesterolaemia

An inherited condition causing significantly higher cholesterol from birth, which substantially raises the risk of early heart disease if unrecognised and untreated. It’s more common than most people realise, and (unlike the polygenic risk described further down this page) is usually caused by a single specific gene variant, which can be tested for directly.

Inherited aortic and connective tissue conditions

Conditions such as Marfan syndrome and related disorders can affect the aorta and heart valves, and carry their own family-screening implications. I assess and manage these conditions myself, both privately and within my NHS clinic.

What happens at your first appointment

The starting point for any family-history concern is a proper, structured assessment, not a single test in isolation.

• A detailed family history is taken, usually building a three-generation family tree, to understand the actual pattern of what’s happened in your family
• Your own history is reviewed and you’re examined
• Baseline tests are arranged as appropriate — typically an ECG and an echocardiogram, and sometimes a cardiac MRI, ambulatory ECG monitoring or exercise testing, depending on what the family history suggests
• Where relevant, genetic counselling and genetic testing are discussed — see below for the two quite different types of genetic test that can apply here
• You leave with a personalised plan. Depending on what’s found, that might mean straightforward reassurance, periodic monitoring, treatment, or an offer of cascade testing to other family members

Genetic testing for inherited heart conditions — two different things

“Genetic testing” covers two genuinely different types of test, and it’s worth being clear about the difference, because they answer different questions.

Diagnostic (cascade) genetic testing

Where a specific inherited condition — a cardiomyopathy, an inherited arrhythmia syndrome, or familial hypercholesterolaemia — is suspected or has already been diagnosed in a family member, testing looks for the specific gene variant responsible for that condition. Once a variant is identified in one family member, other relatives can be offered a straightforward, targeted test for that same variant (known as cascade testing) to find out simply and definitively whether they’ve inherited it too.

Polygenic risk score (PRS) testing for coronary artery disease

This is a different kind of test, aimed at a different, much more common question: not “have I inherited a specific known condition”, but “how much does my inherited background raise or lower my everyday risk of coronary artery disease”. I offer this as a dedicated service — full detail below.

Polygenic Risk Scores for Heart Disease: Personalising cardiovascular prevention

Over the last few years, cardiovascular prevention has been moving quietly but steadily towards a more personalised approach.

We have become very good at identifying population risk — cholesterol levels, blood pressure, smoking, diabetes, weight and fitness. These factors remain critically important. But most clinicians, and many patients, have encountered a familiar problem: people do not always behave as the risk calculators predict.

Some individuals do everything “right” and still develop heart disease early. Others carry several conventional risk factors and remain unaffected for decades. Increasingly, we understand that in many cases the missing piece is genetics.

That is why I offer polygenic risk score (PRS) testing for coronary artery disease through my clinic.

Why genetics matters

Most of what we routinely measure in cardiology reflects modifiable risk — lifestyle, blood tests, blood pressure. But a substantial proportion of cardiovascular risk is inherited.

This is usually not due to a single faulty gene, but to the combined effect of many small genetic variations, each nudging risk up or down slightly. Individually they are insignificant; together they can meaningfully shape someone’s lifetime risk of coronary artery disease.

A polygenic risk score estimates how similar your genetic profile is to that of people who developed coronary artery disease, compared with those who did not. It does not diagnose heart disease, but it provides a quantified measure of inherited susceptibility, something no routine blood test can capture.

When might a polygenic risk score be useful?

For many patients, the challenge is not a lack of tests or information — it is uncertainty. Common scenarios include:

• Mildly raised cholesterol in someone who otherwise lives very healthily
• A strong family history but reassuring scans or normal functional tests
• A low calculated ‘10-year risk’ despite a sense that something is being missed
• Borderline results where it is unclear how aggressive prevention should be

Polygenic risk scores do not replace traditional risk factors, imaging, or lifestyle advice. What they do is add context, helping explain why two people with similar cholesterol levels may have very different lifelong risks, and why prevention strategies sometimes need to differ. A PRS is never interpreted in isolation; it’s considered alongside cholesterol, blood pressure, family history, lifestyle, existing conditions, and any previous cardiac investigations.

A personal perspective

This topic has become personal for my own family.

At the time of writing (2026), my wife is in her mid-forties. She is active, eats well, and has none of the classic features associated with high cardiovascular risk. Recently, however, her cholesterol was unexpectedly found to be on the high side, something many people experience in mid-life. Like many, she initially felt that the implications were distant and abstract.

That changed suddenly when her father died unexpectedly from a heart attack.

As a cardiologist, I deal with heart disease every day. But when it happens in your own family, it lands very differently. It is a stark reminder of how silent coronary disease can be, and how genetics can sometimes outweigh outward appearances and lifestyle alone.

After much discussion, my wife chose to undergo a polygenic risk score — not to medicalise herself, but to gain clarity. How seriously should cholesterol be treated? How proactive should prevention be? Whatever the result, it will guide decisions in a more informed and proportionate way.

This also has implications beyond one individual. At the time of writing, our children are teenagers. Genetic risk does not change over time, but how and when it becomes relevant does. Understanding inherited risk can help inform decisions much later in life, long before symptoms develop, and, where appropriate, allow prevention to be tailored rather than reactive.

This scenario is far from unique. Many people in their forties, fifties and beyond are generally healthy, have mildly abnormal blood tests, and a family history that is easy to downplay until patterns start to emerge.

What the test involves

Although the science behind polygenic risk scoring is complex, the patient journey is straightforward.

After an initial discussion and consent process, a home saliva testing kit is sent out. The sample is returned directly to an accredited UK laboratory using pre-paid packaging. No needles and no clinic visit are required.

The laboratory analyses a large panel of genetic markers and calculates a polygenic risk score using validated, large-scale genomic datasets.

When results return (typically around five weeks), I arrange a dedicated consultation — virtual or in person — to explain the findings in detail and integrate them into your overall cardiovascular risk assessment. This may inform discussions around cholesterol targets, medication, lifestyle measures, or whether additional investigations would be helpful.

This is a fully clinician-led service, not a consumer genetic test returned without medical interpretation.

Cost and access

Polygenic risk score testing: £950

This includes:

• Home saliva testing kit
• Accredited laboratory genomic analysis
• Clinician-interpreted polygenic risk report
• A full follow-up consultation with me personally
• Integration of the result into your personalised prevention plan

Unlike cholesterol tests or scans, this is a once-in-a-lifetime test, as your genetic risk does not change.

I appreciate that this is an expensive investigation. To help make testing more accessible, 0% finance will be available, allowing the cost to be spread over time. Full details are provided before any commitment is made.

Genetics Consent and Initial Consultation

Before any testing is arranged, I also offer a 15-minute virtual consultation (£50) to:

• Discuss what the test can and cannot tell you
• Explore whether it is likely to be useful in your circumstances
• Explain potential implications for you and, where relevant, family members
• Go through informed consent clearly and carefully
• Answer any questions before a decision is made

This consultation does not commit you to having the test. If you decide to proceed, the £50 fee is deducted from the cost of testing. If you decide instead to book a standard cardiology consultation, the £50 is deducted from that appointment fee. If you decide not to proceed further, no additional charges apply. You are paying for clinical advice and time, not purchasing a test.

Important boundaries

• Polygenic risk scores do not diagnose heart disease
• They do not replace conventional risk assessment or investigations
• Results are always interpreted in clinical context
• Testing is entirely optional, with no commercial pressure to proceed

As always, my aim is not to medicalise the healthy, but to use the best available evidence to prevent disease before it starts, in a way that is proportionate, personalised, and sensible.

Where I see patients

Consultations take place at Nuffield Health Bournemouth and at the Dorset Heart Clinic, and are also available by phone or video for patients anywhere in the UK — family-history and inherited-risk assessment often suits a virtual first appointment well, since much of the initial work is discussion and history-taking rather than examination.

Real family stories

To give a flavour of how this plays out in practice, here are two composite examples, based on the kind of patients I commonly see, rather than any single identifiable person.

A man in his early 40s with a family history of heart disease had only modestly raised cholesterol, and using standard 10-year risk calculators his risk looked low — no other obvious risk factors. His polygenic risk score, however, showed his inherited risk of a heart attack was high. That changed how we treated his cholesterol: rather than waiting, we started medication straightaway. We don’t have a crystal ball, but knowing this let him take meaningful steps to reduce his risk.

A woman in her 60s had been advised to start a statin but was reluctant to take on more medication and wanted more information before deciding. Her polygenic risk score came back reassuringly low, and on the strength of that she chose to continue with lifestyle measures alone rather than start treatment.

Different people, faced with similar information, often make different decisions — but having the extra data helps them make one they’re comfortable with.

Frequently asked questions

General — family history and inherited heart conditions

My father died suddenly of a heart attack in his 40s. Should I be checked?

Yes, this is exactly the kind of family history worth having properly assessed — a sudden death at a young age, especially without a clear explanation, is one of the strongest reasons to be seen. An assessment would typically start with a detailed family history and baseline tests such as an ECG and echocardiogram.

What is cascade testing?

Once a specific gene variant causing an inherited heart condition has been identified in one family member, cascade testing offers a simple, targeted test for that same variant to other relatives, to find out clearly whether they’ve inherited it too — rather than everyone needing the full range of investigations.

Is high cholesterol always genetic?

No. Most raised cholesterol relates to diet, lifestyle and general population risk factors. But a specific inherited condition, familial hypercholesterolaemia, causes significantly higher cholesterol from birth and needs to be recognised and treated differently. It’s more common than most people think, and worth considering if cholesterol is high alongside a family history of early heart disease.

Can inherited heart conditions be treated?

Yes, in most cases. Treatment depends entirely on the specific condition, but options range from monitoring and lifestyle measures through to medication, and in some cases specific interventions or devices. Being assessed is what allows treatment — or a decision that none is currently needed — to be tailored to you.

Do my children need to be tested if I have an inherited heart condition?

Often, yes — this is exactly what cascade testing is for. What’s recommended, and at what age, depends on the specific condition, so this is best discussed directly as part of your own assessment.

Genetic risk score (PRS) — specific questions

What is a polygenic risk score (PRS)?

A PRS is a measure of inherited susceptibility to coronary artery disease based on many small genetic variations across the genome. It provides context for prevention decisions but does not diagnose heart disease.

Is a PRS the same as a single-gene test (e.g. familial hypercholesterolaemia)?

No. Single-gene conditions involve a specific pathogenic variant with a large effect. A PRS reflects the combined effect of many variants, each with a small effect, to estimate overall inherited risk.

Does a PRS diagnose heart disease?

No. It estimates inherited risk. It must be interpreted alongside cholesterol, blood pressure, lifestyle, family history and any previous investigations.

Who might consider PRS testing?

It may be useful where there is uncertainty — for example mild or borderline cholesterol abnormalities, a family history that is difficult to interpret, reassuring investigations despite concern, or decisions about how intensive prevention should be.

Who is PRS testing not for?

It is not intended as a general screening test for everyone, and it is not a substitute for lifestyle measures or appropriate medical assessment. Suitability depends on individual circumstances.

How is the test done?

After a consent discussion, a home saliva kit is posted to you. You return the sample to the laboratory using pre-paid packaging. No needles or clinic visit are required.

How long do results take?

Typically around five weeks, though this can vary. When results return, a dedicated consultation is arranged to go through the findings.

Do I need to repeat the test?

No. Your genetic risk does not change, so it is a once-in-a-lifetime test.

What happens after the result?

We interpret the result in context and agree a proportionate prevention plan. This may include discussion of cholesterol targets, lifestyle measures, medication, and whether further investigations are appropriate.

How much does it cost and what is included?

The total cost is £950, including the kit, accredited laboratory analysis, clinician-interpreted report, and a full follow-up consultation with integration into your overall risk assessment.

What is the £50 consultation for?

Before any testing, a 15-minute virtual consultation (£50) is offered to discuss suitability, explain what the test can and cannot tell you, and complete informed consent. It does not commit you to testing. If you proceed, the £50 is deducted from the testing fee (or from a standard cardiology consultation if you choose that instead).

Can I spread the cost?

Yes. 0% finance will be available, allowing the cost to be spread over time. Full details are provided before any commitment is made.

Will my result affect my children or siblings?

A PRS reflects inherited risk and may be relevant to family members, but the implications vary. We can discuss what (if anything) it means for relatives and when it might become relevant.

Book an assessment

If any of the above sounds like your own family history, the first step is a proper assessment — not guesswork. Consultations are available in Bournemouth or by phone/video from anywhere in the UK.