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PubMed This is a summary of 14 peer-reviewed journal articles Updated
Cardiology

Looking Ahead: Long-Term Monitoring and Adulthood

At a Glance

Individuals with Kabuki syndrome require lifelong, proactive medical monitoring into adulthood. Regular evaluations for cardiac, immune, and endocrine health are crucial to manage risks like autoimmunity and obesity and maintain a high quality of life.

While the initial diagnosis of Kabuki syndrome often focuses on immediate needs, it is important to look toward the future. With proactive, lifelong management, many individuals with Kabuki syndrome lead fulfilling lives well into adulthood [1][2]. However, because the syndrome involves dynamic systems—like the heart and the immune system—care is a continuous journey of surveillance.

Long-Term Surveillance Schedule

Consistency is the cornerstone of health in Kabuki syndrome. While specific needs vary, the following surveillance is generally considered:

System Frequency Focus Area
Cardiac As Directed Echocardiogram to monitor for aortic arch dilation. Frequency is directed by a cardiologist based on baseline results [3].
Immune Periodic Blood counts and immunoglobulin levels to watch for emerging autoimmunity or deficiency [4].
Endocrine Annual Monitoring growth, thyroid function, and screening for obesity or insulin resistance [5][6].
Audiology As Needed Continued hearing checks, especially if there is a history of ear infections [7].
Vision Annual Comprehensive eye exams to monitor for refractive errors or esotropia [8].

Health in Adulthood

As individuals transition into adulthood, the medical focus may shift. While developmental progress continues, certain risks persist or may emerge for the first time:

  • Persistent Autoimmunity: Autoimmune conditions like ITP or thyroiditis can appear in adulthood, making regular blood work essential [1][9].
  • Vasculopathy: In rare cases, adults may develop issues with their blood vessels, such as peripheral arterial disease [10].
  • Metabolic Health: There is a known tendency toward obesity in adolescence and adulthood, which can increase the risk for type 2 diabetes and high blood pressure [5].

When to Contact Your Doctor

As with any genetic condition, it is important to maintain “clinical awareness.” This means staying observant for new, persistent, or unusual symptoms. For example, unexplained lumps, chronic pain, severe fatigue, or unexplained neurological changes should always be brought to a doctor’s attention. While exceedingly rare, there are isolated reports of tumors, such as ependymoma (a type of brain/spinal tumor), associated with Kabuki syndrome. Because this is so statistically rare, there is no universal cancer screening recommended, but prompt investigation of unusual symptoms is always the best practice [11][12].

Navigating the Psychological Toll

Living with a “lifelong” diagnosis and an annual schedule of tests can lead to scanxiety—intense anxiety before, during, and after medical appointments or imaging [13]. This distress is a normal reaction to the uncertainty of rare disease management [14].

  • Acknowledge the Weight: The waiting period for test results is often stressful [13].
  • Build a Support System: Many find that talking to a therapist familiar with chronic illness or participating in rare disease advocacy groups helps alleviate the psychological burden [14].
  • Empower Self-Advocacy: For teens and adults, becoming directly involved in the care plan builds essential self-advocacy skills for the future.

Despite the complexities of Kabuki syndrome, the focus of long-term care is to ensure individuals remain as healthy and active as possible. By staying ahead of potential complications through regular screening, you are building the strongest possible foundation for the future [4][2].

Common questions in this guide

What does long-term monitoring for Kabuki syndrome involve?
Long-term monitoring typically involves regular check-ups across multiple systems, including cardiac echocardiograms, immune system blood tests, and annual endocrine, vision, and hearing evaluations.
Does Kabuki syndrome cause health issues in adulthood?
Yes, adults with Kabuki syndrome may face ongoing or new health risks, such as persistent autoimmunity, obesity, and an increased risk for type 2 diabetes or high blood pressure.
How can I manage scanxiety before medical appointments?
Acknowledging your stress and building a support system are key steps. Many individuals find that talking to a therapist familiar with chronic illness or joining a rare disease support group helps alleviate this anxiety.
Are there specific red flag symptoms we should watch for at home?
Stay observant for new, persistent, or unusual symptoms such as unexplained lumps, chronic pain, severe fatigue, or sudden neurological changes, and report them to your doctor immediately.
How do we transition from pediatric to adult specialty care?
Transitioning involves developing a clear, long-term plan with your current medical team. This includes identifying adult specialists, transferring medical records, and empowering the patient to build self-advocacy skills.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.What is our long-term plan for transitioning from pediatric to adult specialty care?
  2. 2.Are there specific 'red flag' symptoms for autoimmunity that we should monitor for at home?
  3. 3.Should we be working with a nutritionist or metabolic specialist to manage the long-term risk of obesity?
  4. 4.Can you recommend a mental health professional who specializes in chronic illness and 'scanxiety'?

Questions For You

Tap a prompt to share your answer — we'll use it plus this page's context to start a tailored conversation.

References

References (14)
  1. 1

    Case report: Macrophage activation syndrome in a patient with Kabuki syndrome.

    Zhang J, Kang Y, Xia Z, et al.

    Frontiers in immunology 2024; (15()):1412084 doi:10.3389/fimmu.2024.1412084.

    PMID: 39139573
  2. 2

    Kabuki Syndrome-Clinical Review with Molecular Aspects.

    Boniel S, Szymańska K, Śmigiel R, Szczałuba K

    Genes 2021; (12(4)) doi:10.3390/genes12040468.

    PMID: 33805950
  3. 3

    Congenital heart defects in molecularly proven Kabuki syndrome patients.

    Digilio MC, Gnazzo M, Lepri F, et al.

    American journal of medical genetics. Part A 2017; (173(11)):2912-2922 doi:10.1002/ajmg.a.38417.

    PMID: 28884922
  4. 4

    Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals.

    Margot H, Boursier G, Duflos C, et al.

    Genetics in medicine : official journal of the American College of Medical Genetics 2020; (22(1)):181-188 doi:10.1038/s41436-019-0623-x.

    PMID: 31363182
  5. 5

    A case of congenital hyperinsulinism presenting with diabetes after long-term diazoxide therapy.

    Furuzono M, Makimura M, Miyako K

    Diabetology international 2024; (15(3)):600-604 doi:10.1007/s13340-024-00720-x.

    PMID: 39101184
  6. 6

    A de novo KMT2D mutation in a girl with Kabuki syndrome associated with endocrine symptoms: a case report.

    Moon JE, Lee SJ, Ko CW

    BMC medical genetics 2018; (19(1)):102 doi:10.1186/s12881-018-0606-9.

    PMID: 29914387
  7. 7

    Ophthalmic manifestations in Kabuki (make-up) syndrome: A single-center pediatric cohort and systematic review of the literature.

    Merdler-Rabinowicz R, Prat D, Pode-Shakked B, et al.

    European journal of medical genetics 2021; (64(6)):104210 doi:10.1016/j.ejmg.2021.104210.

    PMID: 33794347
  8. 8

    Ocular manifestations in kabuki syndrome: A report of 10 cases and literature review.

    Cheon CK, Choi HY, Park SH, et al.

    Ophthalmic genetics 2021; (42(2)):101-104 doi:10.1080/13816810.2020.1861308.

    PMID: 33334222
  9. 9

    Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis.

    Gürbüz F, Özalp Yüreğir Ö, Ceylaner S, et al.

    Journal of clinical research in pediatric endocrinology 2016; (8(1)):105-6 doi:10.4274/jcrpe.2686.

    PMID: 26757828
  10. 10

    Increased risk for severe peripheral arterial disease in Kabuki syndrome.

    D'Andrea MM, Leon LR

    Journal of vascular surgery cases and innovative techniques 2026; (12(1)):101967 doi:10.1016/j.jvscit.2025.101967.

    PMID: 41323532
  11. 11

    Spinal ependymoma in a patient with Kabuki syndrome: a case report.

    Roma D, Palma P, Capolino R, et al.

    BMC medical genetics 2015; (16()):80 doi:10.1186/s12881-015-0228-4.

    PMID: 26341229
  12. 12

    Aggressive desmoid fibromatosis in Kabuki syndrome: Expanding the tumor spectrum.

    Scala M, Morana G, Sementa AR, et al.

    Pediatric blood & cancer 2019; (66(9)):e27831 doi:10.1002/pbc.27831.

    PMID: 31131956
  13. 13

    Scanxiety among Adults with Cancer: A Scoping Review to Guide Research and Interventions.

    Derry-Vick HM, Heathcote LC, Glesby N, et al.

    Cancers 2023; (15(5)) doi:10.3390/cancers15051381.

    PMID: 36900174
  14. 14

    Stress in lockdown: exploring the interplay and effects of cortisol and psychological distress in parent-child dyads.

    Bilodeau-Houle A, Duplessis-Marcotte F, Raymond C, et al.

    Journal of neural transmission (Vienna, Austria : 1996) 2025; (132(9)):1235-1254 doi:10.1007/s00702-025-02898-z.

    PMID: 40063273

This page explains long-term monitoring for Kabuki syndrome for educational purposes. Always consult your healthcare provider or specialists for an individualized care plan.

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