Let’s Talk About Early Warning Signs of an Inherited Cardiac Condition (ICC)

By Poppy’s Mum

In my first blog, I shared the heartbreak of losing Poppy and the impact her death had on our family. In my second blog, I wrote about genetic testing and post-mortem screening, tools that can help safeguard surviving siblings and relatives.

I’m writing this as Poppy’s Mum, and also from my professional background of 25 years as a nurse, including 12 years as a public health nurse specialist and 6 years as a specialist nurse in child protection. My aim is to share Poppy’s story to help other families recognise early warning signs of ICCs, and to support GPs and A&E clinicians to think laterally when a child presents with a faint or light-headedness, even when they appear well.

Poppy passed away in August 2024 due to undiagnosed Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT). She fainted once, two years before she died, and often described feeling light-headed. We attended our local A&E, where she had ECG, blood pressure, height, and weight checked, and was described as well. She was discharged without follow-up. At the time, none of us knew that this faint, along with her recurring light-headedness, were potential early warning signs of a serious cardiac condition.

A crucial part of her history, my paternal grandfather died suddenly at 47 years following a sudden cardiac event, was never asked about by her healthcare providers. This is often a critical clue that can indicate inherited cardiac risk, yet is frequently overlooked.

Sharing Poppy’s story, along with my professional insight and research evidence, I hope will empower families and guide clinicians to identify risks earlier.

What Are Inherited Cardiac Conditions (ICCs)?

ICCs are genetic disorders affecting the heart’s electrical system or structure. They can run in families and may remain silent until a severe or fatal event occurs. Examples include:

• Hypertrophic cardiomyopathy (HCM)

• Long QT Syndrome (LQTS)

• Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)

• Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)

Children and adolescents with ICCs may appear healthy until a severe arrhythmic event occurs. Studies show ICCs are among the leading causes of sudden cardiac death (SCD) and sudden arrhythmic death syndrome (SADS) in young people (RCPath, 2022).

Early Warning Signs of an Inherited Cardiac Condition (ICC)to Look Out For

Even subtle symptoms can be important. In Poppy’s case, fainting was the most obvious sign, but she regularly mentioned feeling light-headed, which in hindsight was significant. Families, schools, and clinicians should be alert to:

• Syncope (fainting) especially during exercise, excitement, or emotional stress

• Recurring light-headedness, dizziness, or near-fainting episodes

• Palpitations racing, fluttering, or irregular heartbeat

• Chest pain or discomfort

• Shortness of breath disproportionate to activity

Even mild or isolated symptoms should never be ignored. Research shows syncope and palpitations often precede serious arrhythmic events (AAP Pediatrics, 2012).

The Importance of Family History

Poppy’s history shows the critical role of family history. My paternal grandfather died suddenly at 47 years, a key clue that could have indicated inherited cardiac risk. Yet nobody asked about this when Poppy was seen in A&E or by her GP.

Families should be encouraged to volunteer detailed family histories, and clinicians should be proactive in asking about sudden cardiac events in relatives under 50 years, including grandparents, aunts, uncles, and siblings. This information is often crucial to identifying children at risk of ICCs, even if the child only presents with subtle symptoms like light-headedness.

Supporting GPs and A&E Staff

I understand that ICCs are rare and can be difficult to identify. Many GPs and A&E teams lack experience with these conditions, which can result in symptoms being overlooked or misattributed.

Poppy’s experience illustrates this:

• She fainted once, two years before her death, and often felt light-headed

• Attended local A&E for evaluation

• Had ECG, blood pressure, height, and weight checks

• Discharged without follow-up, as she appeared well at the time

I hope her story encourages clinicians to think laterally. Even if a child seems well after a faint, unexplained syncope, especially with light-headedness or subtle recurring symptoms, should prompt consideration of an ICC and referral to a consultant electrophysiologist (ScienceDirect, 2022).

Referral to a Consultant Electrophysiologist

Any unexplained faint or recurrent light-headedness should trigger referral to a specialist in cardiac electrophysiology. A comprehensive evaluation may include:

• 12-lead ECG

• Holter monitoring (24–48 hours)

• Exercise stress testing

• Echocardiogram

• Genetic testing and detailed family pedigree analysis

• Thorough three-generation family history review

These investigations are safe and non-painful, even for children and young people under 40 who appear otherwise well. Early diagnosis can prevent tragedy and save lives (PMC, 2023).

Safeguarding Surviving Siblings

As I described in my second blog, genetic testing and cascade screening are vital to protect siblings. The coroner or GP should refer surviving children to a consultant electrophysiologist for evaluation, even if they have no symptoms. Systematic family evaluation and molecular autopsy can identify an ICC in up to 45% of SADS cases (PubMed, 2023).

Early assessment and monitoring can prevent further tragedy and provide families with peace of mind.

How Parents and Carers Can Feel Empowered

Families play a critical role in safeguarding children’s health:

1. Document symptoms fainting episodes, light-headedness, palpitations, chest pain, or breathlessness

2. Gather family history including relatives with sudden deaths, “funny turns,” or cardiac conditions

3. Request specialist referral to a consultant electrophysiologist or inherited cardiac disease centre

4. Ensure thorough investigations ECG, Holter, exercise testing, echocardiogram, and genetic screening if appropriate

5. Seek support and advocacy from charities, support groups, or professional contacts

How Poppy’s Light Foundation Supports Families

We offer:

• Free psychological support and family therapy

• Holistic therapies and activities via partners (Select Psychology, Calm Together)

• Educational resources on ICCs, warning signs, and family screening

• Support navigating referrals, genetic counselling, and specialist appointments

• A caring community to provide guidance, reassurance, and advocacy

Awareness Saves Lives

Recognising early warning signs, understanding the limitations of frontline care, and pursuing specialist referral and family screening can save lives. Families who feel informed and empowered are better able to protect their children.

At Poppy’s Light Foundation, we provide guidance, support, and reassurance, from awareness and screening to emotional support and holistic care.

If you are concerned about your child’s or family’s heart health, speak to a GP or specialist cardiologist. Early intervention can save lives.

References

1. RCPath (2022). Good Practice Series 18: Inherited Cardiovascular Conditions. Royal College of Pathologists. Link

2. Gajewski, M., et al. (2012). Pediatric Sudden Cardiac Arrest. Pediatrics, 129(4): e1094–e1104. Link

3. Roberts, D., et al. (2022). Early presentations in sudden cardiac death: missed opportunities? Heart, 108(1): 20–27. Link

4. Ingles, J., et al. (2023). Genetic evaluation in sudden arrhythmic death syndrome. PubMed. Link

5. Ingles, J., et al. (2023). Molecular autopsy and family evaluation in SADS. PMC. Link