Management and surveillance

Patient cohortComplex diseaseSeeking a lead#cohort-management-surveillance PDF (members)

The anchor question: the diagnosis is established. Who is watching which organ, and when? NF1, Marfan syndrome, Turner syndrome and 22q11.2 deletion each have a published adult schedule. The schedules are good. Keeping one running for decades, across half a dozen specialists, is the work, and it fits the anchor.

Who this cohort covers

Adults with an established genetic diagnosis that calls for lifelong multi-organ surveillance: NF1, Marfan syndrome once the diagnosis is made (the sorting belongs to the connective tissue cohort), Turner syndrome, 22q11.2 deletion syndrome, and conditions built the same way. Many were diagnosed in childhood and grew up in pediatric clinics. The adult schedule is its own document, and the four below each have one.

The stakes are measurable. NF1 affects about 1 in 1,900 to 1 in 3,500 people and shortens average life expectancy by 8 to 15 years, mostly through malignancy and cardiovascular disease.¹ Turner syndrome affects 50 per 100,000 females.² In 22q11.2 deletion, psychotic disorders were present in 41% of adults over 25,³ and 80.4% of adults in one cohort had a lifetime history of hypocalcemia.⁴

Care map

Role	Year 1, Establish	Year 2, Treat	Year 3, Sustain
Anchor	One chart: diagnosis, genotype, pediatric records. Build the surveillance calendar from the condition's adult guideline and name an owner for every line. In NF1, much of adult care can sit with the internist or family physician, coordinated with an NF1 clinic.¹ Teach the NF1 warning signs: progressive severe pain or a growing tumor (MPNST), new unexplained neurologic symptoms (MPNST, brain tumor), sweating with palpitations (pheochromocytoma).¹	Run the calendar. Blood pressure: regular monitoring in NF1,⁵ annually, preferably by ambulatory monitoring, in Turner.²	Annual review against the calendar. Update it when a guideline changes.
Genetics	Confirm the genotype; test if it was never confirmed. Reproductive counseling: NF1 is autosomal dominant,¹ and each child of an adult with 22q11.2 deletion has a 50% chance of inheriting it.⁶	Family screening for Marfan and the other heritable aortic diseases, per the 2022 aortic guideline.⁷ Cascade testing for the rest.	Reclassify any VUS. New guideline versions folded into the calendar.
Specialists	NF1: an NF1 clinic.¹ Marfan: cardiology with access to a multidisciplinary aortic team.⁷ Turner: endocrinology and cardiology within multidisciplinary care.² 22q11.2: endocrinology and ready access to psychiatry.^{3 4 8}	Ophthalmology regularly in NF1.⁵ Audiology every 5 years in Turner.² Breast imaging in NF1 from age 30.⁵	Pregnancy planning in Marfan through the aortic team; desire for pregnancy is one of the reasons surgery may come earlier.⁷
Diagnostics	Marfan: TTE at diagnosis for root and ascending diameters, then annually if stable.⁷ Turner: TTE at diagnosis, cardiac MRI in addition or instead, then imaging at least every 5 to 10 years in adults whose first screen found no significant cardiovascular disease; TSH and HbA1c or fasting glucose every 1 to 2 years; ALT, AST, GGT and ALP every 1 to 2 years; celiac serology every 2 to 5 years; lipids every 3 years.² 22q11.2: calcium, magnesium, PTH and TSH followed for life;⁴ TSH, free T4 and CBC annually.⁶ NF1: annual examination by a physician familiar with NF1; annual mammography from 30, and consider annual breast MRI from 30 to 50.⁵	NF1: MRI for clinically suspected tumors.⁵ Turner: DXA every 5 to 10 years through adulthood.²	Act on the thresholds. Marfan: surgery recommended at a root of 5.0 cm or more, and reasonable at 4.5 cm with risk features such as a family history of dissection or growth of 0.3 cm a year or more.⁷ Turner: an aortic size index above 2.5 cm/m² prompts evaluation for elective surgery.²
Therapies	Marfan: a beta blocker or an ARB at maximally tolerated doses.⁷ In a pooled analysis of randomized trials, ARBs roughly halved the annual rise in aortic root Z score, including on top of a beta blocker.⁹ Turner: estrogen and progesterone until the usual age of menopause, about 50 to 55;² treat confirmed hypertension, with a beta blocker, an ARB or both when the aorta is dilated.²	NF1: referral for MEK inhibitor therapy for a symptomatic plexiform neurofibroma. In ReNeu, mirdametinib produced a confirmed response in 24 of 58 adults (41%), with less pain and better quality of life.¹⁰	Reassess therapy at each annual review.
Behavioral health and nutrition	22q11.2: regular psychiatric review and a low threshold to refer; the consortium data argue for monitoring psychopathology for life.³ NF1: psychiatric and neurologic diagnoses are common in adults; ask.¹ Turner: neurocognition and mental health are part of the guideline.²	22q11.2: carbonated drinks and alcohol can worsen hypocalcemia, and caffeine can worsen anxiety.⁶	As needed.
Community	Condition-specific patient organizations.	Transition support for patients arriving from pediatric care.

Visit one

The map above is the evidence. This is what to do with the patient in the room. Each line comes from the Year 1 column and carries the same citations.

Ask	Who has been following which organ, and when each was last checked. NF1: new pain, a growing lump, new neurologic symptoms, sweating with palpitations.¹ 22q11.2: mood, anxiety, hallucinations or unusual beliefs, and symptoms of low calcium.^{3 4} Turner: estrogen use and hearing.² Pregnancy plans.
Examine	Blood pressure.^{2 5} NF1: skin and palpable neurofibromas, breast exam.⁵ Weight and height for the aortic size index in Turner.²
Order	Marfan: TTE if not done in the past year.⁷ Turner: the lab panel and, if never done as an adult, cardiac imaging.² 22q11.2: calcium, magnesium, PTH, TSH, free T4, CBC.^{4 6} NF1 women from 30: mammography, and consider breast MRI to 50.⁵
Refer	NF1 clinic;¹ aortic team for Marfan;⁷ endocrinology and cardiology for Turner;² psychiatry access for 22q11.2.³ Where: the specialist, advanced imaging, procedural studies and counselor rosters.
Tell the patient	The calendar, in writing, with an owner for each line. The warning signs that should bring them in before the next visit.¹ What their diagnosis means for children.^{1 6}
Document	Diagnosis and genotype, the full calendar with intervals and owners, the last date for each item, and any threshold that would change management (aortic size, Z score, ASI).

Roster for this cohort

Drawn from the specialist roster (cardiology with aortic interest, endocrinology, psychiatry, ophthalmology), advanced imaging (cardiac and aortic MRI, breast MRI), procedural studies (echocardiography, audiology), clinical expertise (genetics consults), the counselor roster (genetic counselors, psychologists, psychiatrists), and the resource roster (care navigators, patient organizations). Anchors come from the primary care roster. Forming; propose entries in the cohort channel.

Readings

GeneReviews: Neurofibromatosis 1 (revised 2025), 22q11.2 Deletion Syndrome (revised 2025). University of Washington.
ACMG clinical practice resource on the care of adults with NF1 (reference 1).
2022 ACC/AHA guideline for the diagnosis and management of aortic disease, section 6.1.2 on Marfan syndrome (reference 7).
2024 international clinical practice guidelines for girls and women with Turner syndrome (reference 2).
Updated clinical practice recommendations for adults with 22q11.2 deletion syndrome (reference 8).

References

Stewart DR, Korf BR, Nathanson KL, Stevenson DA, Yohay K. Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2018;20(7):671-682. doi:10.1038/gim.2018.28
Gravholt CH, Andersen NH, Christin-Maitre S, et al. Clinical practice guidelines for the care of girls and women with Turner syndrome. Eur J Endocrinol. 2024;190(6):G53-G151. doi:10.1093/ejendo/lvae050
Schneider M, Debbané M, Bassett AS, et al. Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome. Am J Psychiatry. 2014;171(6):627-639. doi:10.1176/appi.ajp.2013.13070864
Cheung EN, George SR, Costain GA, et al. Prevalence of hypocalcaemia and its associated features in 22q11.2 deletion syndrome. Clin Endocrinol (Oxf). 2014;81(2):190-196. doi:10.1111/cen.12466
Friedman JM. Neurofibromatosis 1. In: GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2026. Revised 2025 Apr 3. NBK1109
McDonald-McGinn DM, Hain HS, Emanuel BS, Zackai EH. 22q11.2 deletion syndrome. In: GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2026. Revised 2025 May 8. NBK1523
Isselbacher EM, Preventza O, Hamilton Black J 3rd, et al. 2022 ACC/AHA guideline for the diagnosis and management of aortic disease: a report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines. Circulation. 2022;146(24):e334-e482. doi:10.1161/CIR.0000000000001106
Boot E, Óskarsdóttir S, Loo JCY, et al. Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome. Genet Med. 2023;25(3):100344. doi:10.1016/j.gim.2022.11.012
Pitcher A, Spata E, Emberson J, et al. Angiotensin receptor blockers and β blockers in Marfan syndrome: an individual patient data meta-analysis of randomised trials. Lancet. 2022;400(10355):822-831. doi:10.1016/S0140-6736(22)01534-3
Moertel CL, Hirbe AC, Shuhaiber HH, et al. ReNeu: a pivotal, phase IIb trial of mirdametinib in adults and children with symptomatic neurofibromatosis type 1-associated plexiform neurofibroma. J Clin Oncol. 2025;43(6):716-729. doi:10.1200/JCO.24.01034

References retrieved from PubMed on 2026-10-30. Care maps are peer-authored clinical frameworks for network members, not individualized medical advice, and are reviewed at each yearly cycle.

Discuss this cohort in Slack

Colorado Care Network. Management and surveillance. Version 2026-10-30.