Skip to content
How It Works
Explore
Ask a Question Resources Pricing
Who It's For
Patients
Decode results, prep for appointments, weigh options.
Caregivers & advocates
Carry the research load for someone you love.
Providers & clinicians
Resources for patients in your practice.
Log In Sign Up
PubMed This is a summary of 22 peer-reviewed journal articles Updated
Cardiology

The Diagnostic Journey: Understanding Your Tests

At a Glance

Familial ventricular tachycardia can be missed by a single normal test. Doctors often combine supervised exercise testing, cardiac MRI, wearable heart monitoring, family history, and genetic results, then interpret the findings using established criteria over time.

Diagnosing an inherited arrhythmia is rarely a “one-and-done” process. Because these conditions can be hidden or develop slowly over time, doctors use a multimodal approach—meaning they combine results from several different types of tests to build a complete picture of your heart’s health [1][2].

It is important to know that a single normal test result does not always mean your family is “in the clear.” Some conditions, like CPVT, only show up when the heart is pumping hard, while others, like ARVC, may take years to show physical changes [3][4]. Never attempt to test a child’s heart at home by increasing their exercise intensity on your own.

Tests That May Be Used

Evaluation is tailored by your specialist. Not every patient will require every test on this list.

  • The Exercise Stress Test: For many families, the most confusing part of the workup is that a standard ECG (Electrocardiogram) at rest often looks perfectly normal [5][3]. By having you or your child run on a treadmill or ride a stationary bike, doctors can watch how the heart’s wiring reacts to stress [6]. Doctors look for specific types of “extra beats” (ventricular ectopy) that appear as the heart rate rises [6][7]. Note that a single negative exercise test does not completely exclude CPVT, and specialists may recommend repeat supervised testing or monitoring over time [4].
  • Cardiac MRI (CMR): While an ultrasound (Echocardiogram) is a great first step, a Cardiac MRI is essential when ACM is suspected [8][9]. Late Gadolinium Enhancement (LGE) uses a contrast agent to highlight areas of scar tissue or inflammation in the heart muscle [10][11]. The MRI can also detect if specific parts of the heart wall are bulging or not moving correctly [8][12]. In athletic children, an expert must review these images to ensure that “normal athlete’s heart” isn’t mistaken for disease [13][14].
  • Ambulatory Monitoring: A wearable monitor (like a Holter) records the heart for 24+ hours to catch spontaneous arrhythmias [1].

Putting it All Together: The Criteria

Doctors don’t just guess a diagnosis; they use standardized checklists to ensure accuracy.

  • 2010 Revised Task Force Criteria (rTFC): This is a traditional framework for ARVC, focusing primarily on the right side of the heart [2].
  • 2020 Padua Criteria: These updated guidelines allow doctors to diagnose “Left-Dominant” or “Biventricular” forms of ACM [15][16].

These criteria combine findings from your ECG, MRI, family history, and genetic tests to classify the disease as Definite, Borderline, or Possible [2]. Patients cannot reliably calculate this themselves; only an experienced clinician can interpret these criteria in the context of the entire clinical picture.

Genetic Testing and the “VUS”

Genetic testing can provide critical information, but the results can sometimes be “gray.” A negative genetic panel does not prove that an inherited condition is absent.

  • Pathogenic Variant: This is a “positive” result. It means a mutation was found that strongly supports inherited susceptibility [17].
  • Variant of Uncertain Significance (VUS): This is a very common result. It means a change was found in your DNA, but scientists don’t yet have enough evidence to know if it causes disease or if it’s just a harmless natural variation [18][19].
  • What to do with a VUS: A VUS should not be used to make major medical decisions or for predictive testing of other family members [18]. Instead, your specialist may recommend “segregation testing”—testing other relatives as part of specialist-guided research to clarify the variant over time [20][21].

Clinical Family Screening

A thorough workup should include a Three-Generation Family History—a detailed map of heart issues in your relatives [1]. First-degree relative screening (parents and siblings) through clinical assessment is generally required. Predictive genetic testing should only be offered to relatives when a known familial pathogenic variant is available [22].

Common questions in this guide

Can familial ventricular tachycardia be present when a resting ECG is normal?
Yes. Some inherited rhythm disorders, including CPVT, may appear mainly when the heart is working hard, while other conditions may develop visible changes over time. Doctors may use supervised exercise testing, wearable monitoring, imaging, family history, and genetic results rather than relying on one ECG.
What tests are used to investigate inherited ventricular tachycardia?
Evaluation may include a resting ECG, supervised exercise stress test, echocardiogram, cardiac MRI, and a wearable monitor such as a Holter monitor. Doctors also review a three-generation family history and may order genetic testing, but not every patient needs every test.
Does a negative genetic test rule out familial ventricular tachycardia?
No. A genetic panel can miss a disease-causing change, and some inherited arrhythmias are diagnosed from clinical findings and family history. A negative result should be interpreted by a specialist rather than treated as proof that the condition is absent.
What does a VUS mean on an inherited arrhythmia genetic test?
A variant of uncertain significance, or VUS, is a DNA change that scientists do not yet know is harmful or harmless. It should not be used by itself to make major medical decisions or to perform predictive testing in relatives. A specialist may recommend follow-up or carefully planned family testing to clarify it as evidence develops.
Do family members need screening for familial ventricular tachycardia?
Parents and siblings, who are first-degree relatives, generally need clinical screening when an inherited arrhythmia is suspected. Predictive genetic testing is usually offered only when a known disease-causing familial variant has been identified. A cardiology or electrophysiology team can determine which relatives need testing and when.
Who should interpret the diagnostic criteria for arrhythmogenic cardiomyopathy?
An experienced clinician should apply the 2010 Revised Task Force Criteria or 2020 Padua Criteria using the full clinical picture. These frameworks combine information from the ECG, cardiac imaging, family history, and genetic testing to classify findings as definite, borderline, or possible. Patients should not calculate the classification on their own.

Questions For You

Answer a question to get research tailored to you. Your answers are private.

Get notified when new evidence is published on Familial ventricular tachycardia.

We monitor PubMed for new peer-reviewed studies on this topic and email a short summary when something meaningful changes.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Have we performed a supervised exercise stress test to rule out CPVT, even though the resting ECG was normal?
  2. 2.Was the Cardiac MRI reviewed by an imaging specialist who is experienced specifically in Arrhythmogenic Cardiomyopathy (ACM)?
  3. 3.Based on the clinical criteria, what is our exact diagnostic classification right now?
  4. 4.If we found a 'Variant of Uncertain Significance' (VUS), what is the plan for re-evaluating this finding as more research becomes available?
  5. 5.Which of my child's first-degree relatives (siblings, parents) need to begin clinical screening now?

References

References (22)
  1. 1

    Contemporary diagnostic approach to arrhythmogenic cardiomyopathy: The three-step work-up.

    Graziano F, Zorzi A, Cipriani A, et al.

    Trends in cardiovascular medicine 2025; (35(2)):107-113 doi:10.1016/j.tcm.2024.09.002.

    PMID: 39341581
  2. 2

    Arrhythmogenic right ventricular cardiomyopathy, clinical manifestations, and diagnosis.

    Haugaa KH, Haland TF, Leren IS, et al.

    Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 2016; (18(7)):965-72 doi:10.1093/europace/euv340.

    PMID: 26498164
  3. 3

    Catecholaminergic Polymorphic Ventricular Tachycardia: Clinical Characteristics, Diagnostic Evaluation and Therapeutic Strategies.

    Aggarwal A, Stolear A, Alam MM, et al.

    Journal of clinical medicine 2024; (13(6)) doi:10.3390/jcm13061781.

    PMID: 38542006
  4. 4

    Clinical and molecular characterization of a cardiac ryanodine receptor founder mutation causing catecholaminergic polymorphic ventricular tachycardia.

    Wangüemert F, Bosch Calero C, Pérez C, et al.

    Heart rhythm 2015; (12(7)):1636-43.

    PMID: 25814417
  5. 5

    A delayed diagnosis of catecholaminergic polymorphic ventricular tachycardia with a mutant of RYR2 at c.7580T>G for 6 years in a 9-year-old child.

    Duan H, Lu Y, Yan S, et al.

    Medicine 2018; (97(16)):e0368 doi:10.1097/MD.0000000000010368.

    PMID: 29668588
  6. 6

    Exercise testing oversights underlie missed and delayed diagnosis of catecholaminergic polymorphic ventricular tachycardia in young sudden cardiac arrest survivors.

    Giudicessi JR, Ackerman MJ

    Heart rhythm 2019; (16(8)):1232-1239 doi:10.1016/j.hrthm.2019.02.012.

    PMID: 30763784
  7. 7

    Catecholaminergic Polymorphic Ventricular Tachycardia Type 2 Presenting as Seizure in a Child: Diagnostic Pitfalls.

    Rahimpour F, Moghaddam ES, Fallahi NA

    JACC. Case reports 2026; (31(36)):109233 doi:10.1016/j.jaccas.2026.109233.

    PMID: 42435031
  8. 8

    Imaging Features of Arrhythmogenic Cardiomyopathies.

    Galizia MS, Attili AK, Truesdell WR, et al.

    Radiographics : a review publication of the Radiological Society of North America, Inc 2024; (44(4)):e230154 doi:10.1148/rg.230154.

    PMID: 38512728
  9. 9

    Noninvasive Multimodality Imaging in ARVD/C.

    Te Riele ASJM, Tandri H, Sanborn DM, Bluemke DA

    JACC. Cardiovascular imaging 2015; (8(5)):597-611 doi:10.1016/j.jcmg.2015.02.007.

    PMID: 25937197
  10. 10

    Proposed diagnostic criteria for arrhythmogenic cardiomyopathy: European Task Force consensus report.

    Corrado D, Anastasakis A, Basso C, et al.

    International journal of cardiology 2024; (395()):131447 doi:10.1016/j.ijcard.2023.131447.

    PMID: 37844667
  11. 11

    Multimodality Imaging in Arrhythmogenic Right Ventricular Cardiomyopathy.

    Malik N, Mukherjee M, Wu KC, et al.

    Circulation. Cardiovascular imaging 2022; (15(2)):e013725 doi:10.1161/CIRCIMAGING.121.013725.

    PMID: 35147040
  12. 12

    Arrhythmogenic right ventricular cardiomyopathy. Contribution of cardiac magnetic resonance imaging to the diagnosis.

    Perazzolo Marra M, Rizzo S, Bauce B, et al.

    Herz 2015; (40(4)):600-6 doi:10.1007/s00059-015-4228-0.

    PMID: 26077775
  13. 13

    Right ventricular assessment of the adolescent footballer's heart.

    Augustine DX, Willis J, Sivalokanathan S, et al.

    Echo research and practice 2024; (11(1)):7 doi:10.1186/s44156-023-00039-4.

    PMID: 38424646
  14. 14

    Diagnostic Challenges in Rare Causes of Arrhythmogenic Cardiomyopathy-The Role of Cardiac MRI.

    Manole S, Pintican R, Popa G, et al.

    Journal of personalized medicine 2022; (12(2)) doi:10.3390/jpm12020187.

    PMID: 35207675
  15. 15

    Evolving Diagnostic Criteria for Arrhythmogenic Cardiomyopathy.

    Corrado D, Zorzi A, Cipriani A, et al.

    Journal of the American Heart Association 2021; (10(18)):e021987 doi:10.1161/JAHA.121.021987.

    PMID: 34533054
  16. 16

    Diagnosis of arrhythmogenic cardiomyopathy: The Padua criteria.

    Corrado D, Perazzolo Marra M, Zorzi A, et al.

    International journal of cardiology 2020; (319()):106-114 doi:10.1016/j.ijcard.2020.06.005.

    PMID: 32561223
  17. 17

    Variant interpretation in molecular autopsy: a useful dilemma.

    Scheiper-Welling S, Tabunscik M, Gross TE, et al.

    International journal of legal medicine 2022; (136(2)):475-482 doi:10.1007/s00414-021-02764-z.

    PMID: 35091851
  18. 18

    MaveMD: A functional data resource for genomic medicine.

    McEwen AE, Stone J, Tejura M, et al.

    medRxiv : the preprint server for health sciences 2025; doi:10.1101/2025.11.15.25336228.

    PMID: 41332838
  19. 19

    Diagnostic yield from cardiac gene testing for inherited cardiac conditions and re-evaluation of pre-ACMG variants of uncertain significance.

    Murphy J, Kirk CW, Lambert DM, et al.

    Irish journal of medical science 2024; (193(4)):1775-1785 doi:10.1007/s11845-024-03650-4.

    PMID: 38489124
  20. 20

    Variant sub-tiering, disease-gene associations and strictness of clinical criteria improves the interpretation of variants of uncertain significance in hereditary cardiomyopathies and rhythm disorders.

    Castori M, Mastroianno S, Fontana A, et al.

    Journal of human genetics 2025; (70(7)):349-358 doi:10.1038/s10038-025-01344-y.

    PMID: 40307381
  21. 21

    Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

    Richards S, Aziz N, Bale S, et al.

    Genetics in medicine : official journal of the American College of Medical Genetics 2015; (17(5)):405-24 doi:10.1038/gim.2015.30.

    PMID: 25741868
  22. 22

    BASIC AND CLINICAL INSIGHTS IN CATECHOLAMINERGIC (FAMILIAL) POLYMORPHIC VENTRICULAR TACHYCARDIA.

    Márquez MF, Totomoch-Serra A, Rueda A, et al.

    Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion 2019; (71(4)):226-236 doi:10.24875/RIC.19002939.

    PMID: 31448784

This page is for informational purposes only and does not constitute medical advice or a diagnosis. A cardiologist or electrophysiologist should interpret your family's results and guide testing and screening.