Identifying familial cardiac risk earlier in clinical practice

Inherited cardiac conditions remain one of the most persistent gaps in cardiovascular care. While conditions such as familial hypercholesterolemia (FH), cardiomyopathies, aortopathies, and inherited arrhythmias are collectively more common than many clinicians assume, they are frequently underrecognized in routine practice. 

Insights from a recent webinar presented by Leslie Saltzman, DO, MBA, vice president of consumer health solutions at Labcorp, and Aimee Allworth, MS, CGC, medical science liaison at Labcorp, highlight a critical reality: Clinicians are often encountering risk signals earlier than they may realize, especially in women, for whom risk can emerge across distinct life stages. However, without a structured approach to family history, life-stage risk factors, and genetic testing, these signals can be missed. 

This clinical summary synthesizes key takeaways to help cardiac specialists and providers managing routine care identify inherited cardiovascular risk earlier, refine diagnostic pathways, and integrate genetic testing tools into care. 

The scope of inherited cardiac disease is broader than expected 

If you are relying solely on traditional cardiovascular risk models, inherited disease may remain hidden. Heritable cardiovascular conditions affect approximately 1 in 150 individuals and include cardiomyopathies, arrhythmia syndromes, aortopathies, and lipid disorders such as FH. 

These conditions often follow autosomal dominant inheritance patterns, meaning first-degree relatives have a 50% likelihood of sharing the same pathogenic variant. 

Yet detection is complicated by variable expression. Many patients remain asymptomatic for years, or present later than affected relatives. For example, up to 50% of individuals with hypertrophic cardiomyopathy may have no symptoms at the time of genetic diagnosis.

Clinical implication: A normal exam or delayed presentation does not exclude inherited risk. Family history and longitudinal context are essential. 

Risk emerges across women’s health

Cardiovascular risk is not static.  For women, it evolves across distinct life stages, often intersecting with underlying genetic susceptibility.

Early life and adolescence 

Updated guidelines emphasize early lipid screening, beginning as young as age 2 when there is family history is present, to help identify FH and related disorders. 

Beyond lipids, risk markers include: 

• Exercise-induced syncope or collapse (possible cardiomyopathy or arrhythmia)
• Stroke in young women, sometimes linked to inherited or structural (vascular) causes
• Menstrual irregularities and polyendocrine metabolic ovarian syndrome (PMOS, previously known as PCOS), which are associated with long-term cardiometabolic risk 

Clinical implication: Routine visits offer opportunities to identify early warning signs that fall outside traditional cardiac screening. 

Pregnancy and postpartum 

Pregnancy acts as a physiologic stress test, often unmasking previously silent disease. 

Key considerations include: 

• Peripartum cardiomyopathy, a leading cause of late postpartum mortality
• Exacerbation of pre-existing cardiovascular conditions
• Increased risk of complications in individuals with inherited aortopathies or cardiomyopathies 

Adverse pregnancy outcomes, including preeclampsia and gestational diabetes, are associated with an increase in future cardiovascular disease risk. 

Clinical implication: Pregnancy history is a core component of long-term cardiovascular risk assessment.

Menopause and later life 

Hormonal shifts during menopause can accelerate cardiometabolic risk. Elevated levels of LDL cholesterol, blood pressure, inflammation, and insulin resistance all contribute to increased risk of atherosclerotic cardiovascular disease, stroke, and heart failure. 

Shorter reproductive lifespan and early menopause further amplify risk. 

Clinical implication: Risk assessment should be dynamic, incorporating reproductive history and menopausal status alongside standard calculators. 

When to suspect an inherited cardiac condition 

You may already be seeing clues that warrant a genetic evaluation in patients of any age or gender in a routine care setting. Common indicators include: 

• Early-onset cardiovascular disease (e.g., MI, stroke, or heart failure)
• Unexplained syncope or arrhythmia
• Sudden cardiac death in family members
• Persistent elevations in LDL cholesterol
• Aortic aneurysm or dissection at a young age
• Family history of patterns of cardiac disease 

Even in the absence of a clear pattern, variable expression of genetic conditions and gaps in reported family history can obscure risk. 

Clinical implication: Maintain a low threshold for suspicion, particularly when presentation is atypical or age of onset occurs early.  Asking about cardiac health and family history early and often can help identify red flags for further evaluation or referral to a specialist.

The clinical utility of genetic testing 

Genetic testing is increasingly supported across major cardiology societies for a range of inherited cardiovascular conditions. 

Its value extends beyond diagnosis: 

1. Diagnostic clarity 

Testing can confirm a suspected condition and identify the molecular basis of disease. This is particularly relevant for: 

• Cardiomyopathies (moderate to high diagnostic yield)
• Arrhythmia syndromes such as Long QT
• Aortopathies (syndromic and non-syndromic)
• FH, where detection rates can be as high as 80% in some populations 

2. Risk stratification and management 

Results can inform: 

• Surveillance intervals
• Device decisions (e.g., ICD placement)
• Use of targeted therapies
• Lifestyle and trigger avoidance

3. Family-based prevention 

Cascade testing (testing first-degree relatives) enables identification of at-risk relatives before symptoms develop. This is especially impactful in FH, where statin initiation at an early age can significantly reduce cardiovascular events. 

Clinical implication: When applied systematically, genetic testing can serve as a diagnostic tool and a population-level prevention strategy. 

Integrating genetic counseling and patient support tools 

Even when testing is available, navigating results and next steps can be complex. Genetic counselors play a central role in: 

• Collecting detailed three-generation family histories
• Supporting pre- and post-test decision-making
• Interpreting results and guiding management
• Coordinating cascade testing for families 

Leading genetic testing laboratories, including Labcorp, now offer integrated support, such as telehealth genetic counseling and family testing programs, to streamline this process. 

Clinical implication: Incorporating genetic counseling into your workflow can improve diagnostic accuracy and patient adherence. 

Moving from reactive care to early detection 

If inherited cardiac conditions are consistently underdiagnosed, the challenge is not a lack of tools. It is a gap in recognition and integration. 

Closing that gap means: 

• Expanding risk assessment beyond traditional factors
• Routinely incorporating family and reproductive history
• Identifying clinical “red flags” earlier
• Leveraging genetic testing and counseling as standard components of care 

By reframing cardiovascular risk as a longitudinal, genetically informed process, you can move from reacting to disease progression toward preventing it altogether. 

Clinical takeaway

Inherited cardiac conditions are often hiding in plain sight. With earlier screening, more comprehensive history-taking and appropriate use of genetic testing tools, you can identify at-risk patients sooner and meaningfully improve outcomes.