Tomeko
🧬

Find Care & Disease Intelligence

Familial Bicuspid Aortic Valve Hub

Trusted care. Latest research. Community. Everything Familial Bicuspid Aortic Valve in one place.

πŸ¦“ Rare disease 🧬 Genetic ● Rare disease awareness
Your privacy. Our promise. No patient information is collected.No PHI.No patient data sold.Your trust is our foundation.
πŸ“° Latest
New Familial Bicuspid Aortic Valve research indexed on PubMed  Β·  Recruiting trials on ClinicalTrials.gov  Β·  Find a Familial Bicuspid Aortic Valve specialist near you  Β·  Familial Bicuspid Aortic Valve community & caregiver support  Β·  CFRD screening reminder  Β· 
Viewing as

What can we help you with today?

πŸ”— Customize
Clinical Trials
Find trials
Find a Specialist
Near you
Treatment Guides
Plain language
Community Groups
Connect & share
Ask Meko
AI assistant

Medical Overview of Familial Bicuspid Aortic Valve

Sources cited

Familial bicuspid aortic valve is a rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection).

Gene / DefectNOTCH1, NKX2-5, GATA5, SMAD6
InheritanceAutosomal dominant
Hallmark SymptomsAortic regurgitation, Aortic valve calcification, Aortic valve stenosis, Coarctation of aorta, Heart murmur, Thoracic aorta calcification, Dilatation of the aortic arch, Hypertension
Also known as: Familial BAV
Classification & codes: GARD 0017670 · Orphanet ORPHA:402075 · OMIM 109730 · ICD-10 Q23.1

Sources: GARD (NIH/NCATS), Orphanet Β· last reviewed 2026. Educational only β€” not medical advice.

πŸ“°
News & Updates
For you
πŸ“„
News & Developments
Live sources
πŸ’Š
Treatments
Current options

News & Updates

New in Familial Bicuspid Aortic Valve research Β· 2026

ALYFTREK shows positive Phase 3 results in children ages 2–5

Vertex plans global regulatory submissions for this pediatric age group in the first half of 2026.

Real, verifiedPediatric
Source: Vertex Pharmaceuticals newsroom · linked
View article β†’
Community Discussion Β· in Parent Caregivers Β· 4 hours ago

Airway clearance routines that actually work for teens

πŸ’¬ 142 replies❀ 87 likes
Join the discussion β†’
Clinical Trial Match Β· Recommended for you

3 open trials match this profile

Locations in NC, FL and GA.

GeneticModulatorAges 12+
Source: ClinicalTrials.gov · linked
View matches β†’
Upcoming Event Β· sample

Familial Bicuspid Aortic Valve Family Conference

Illustrative example event Β· location TBD

Register β†’
Featured Education Β· Tomeko Grand Rounds

Care & management overview — Familial Bicuspid Aortic Valve

Educational programming; see the cited sources on this hub.

Sample session · illustrative
Watch β†’

Familial Bicuspid Aortic Valve News & Developments

The latest Familial Bicuspid Aortic Valve research, news and registered trials — live from public sources. Each link opens the source directly; nothing here is auto-summarized or invented.

πŸ§ͺ
Clinical Trials
Live search
πŸ“
Find a Specialist
Near you
βœ…
Visit Questions
Prep for your visit
πŸ₯
Hospital Directory
By faculty
πŸ“–
Plain-language Tools
Translate jargon
🧰
Mental Health Toolkit
Advisory Board vetted
🏫
504 / IEP Checklist
For school meetings
πŸ”¬
Research Matching
Find collaborators

Recruiting trials

View all →
Loading recruiting Familial Bicuspid Aortic Valve trials…Live from ClinicalTrials.gov

Find a Familial Bicuspid Aortic Valve Specialist Near You

Sample results β€” illustrative only. A real version would search the NPPES provider registry and CFF-certified centers by actual distance from your ZIP.

Treatment & Daily Living

Medical care plus the everyday therapies and supports relevant to Familial Bicuspid Aortic Valve. Treatment is individualized — ask your specialist about the medications, procedures and therapies. Browse medications →

🦡
Physical therapyStrength, mobility and function.
βœ‹
Occupational therapyDaily-living skills and adaptive strategies.
β™Ώ
Assistive technologyDevices and tools that support independence.
πŸ’š
Mental healthCoping support for patients and families.
🏫
School & workAccommodations, IEP / 504 and workplace support.
🀝
Caregiver & respiteSupport and rest for the people doing the caring.

Media Center

live

News, podcasts, books & research for Familial Bicuspid Aortic Valve — real coverage, links out, never re-hosted.

πŸ“°
NewsLatest coverage.
🎧
PodcastsEpisodes & shows.
πŸ“–
BooksBooks & memoirs.
πŸ§ͺ
ResearchNewest papers (PubMed).

Audience Guides

Plain-language guidance for the people around someone with Familial Bicuspid Aortic Valve — how to understand it and talk about it. AI-generated for communication, not medical advice; always confirm specifics with a clinician.

πŸ‘©β€πŸ«
TeacherA student may need accommodations — rest breaks, bathroom access, flexible deadlines, or a place for medication. Keep the care plan handy, know the warning signs, and treat the student as capable — most want to be included, not singled out.
πŸƒ
CoachAsk the family what activity is safe and what to watch for. Have an emergency plan and the family's contacts on hand. Build in rest and hydration, and adapt drills so they can take part.
πŸ’Ό
Employer / managerFocus on what helps them do the job — flexible hours, remote options, accessible space, and time for appointments. Keep health details private and let them lead on what they share.
πŸ₯
School nurseGet the care plan and medication orders on file, know the emergency steps and who to call, and coordinate quietly with teachers so the student is supported without being singled out.
πŸ‘ͺ
Family & friendsLearn the basics, ask how you can help rather than assuming, and offer specific support — a meal, a ride, or just listening. Small, steady help matters more than grand gestures.

Companies Developing Treatments

live

Biopharma companies with registered trials for Familial Bicuspid Aortic Valve — from ClinicalTrials.gov. Informational, not an endorsement, and not every program is in trials.

Companies and research sponsors running trials for Familial Bicuspid Aortic Valve — drawn from ClinicalTrials.gov (industry-sponsored studies).
β–Ύ

Questions For Your Next Visit

Print

Preferences only β€” saved to your account, never shared or sold. No PHI. Sources: GARD (NIH/NCATS), Orphanet.

Tools

πŸ”Ž
Familial Bicuspid Aortic Valve Care Directoryfrom CFRI faculty

Every institution behind the faculty, with their affiliated experts.

Mental Health Toolkit

Sources cited

Coping strategies, how to find a a specialist therapist, and mental-health resources built for the ups and downs of living with Familial Bicuspid Aortic Valve β€” for patients and caregivers alike.

β–Ύ

504 & IEP Accommodations Checklist

Print

Preferences only β€” saved to your account, never shared or sold. No PHI. Sources: GARD (NIH/NCATS), Orphanet.

πŸŽ“
Grand Rounds
Accredited education
πŸ›οΈ
Centers of Excellence
CFF network
🀝
Nonprofits & Foundations
Who to know
πŸ’΅
Grants & Financial Help
Cost assistance

Grand Rounds & Accredited Education

CFRI 2026 program
Familial Bicuspid Aortic Valve Pharmaceutical Issues β€” Drug-Drug Interactions and BeyondJake Brockmeyer, PharmD
Grand Rounds & CME — Familial Bicuspid Aortic ValveManu Jain, MD
Clinical management — Familial Bicuspid Aortic ValveKevin Scully, MB BCh BAO
Multidisciplinary care — Familial Bicuspid Aortic ValveSigrid Barrett, PhD, RN
Panel: Impacts of Aging with Familial Bicuspid Aortic ValveUluer Β· Desch Β· Brace Β· Mentch
The Bloom Effect: How Resilience Transforms UsKimberly Morse, MSW, LCSW
Familial Bicuspid Aortic Valve in the Context of the ExposomeGabriela Oates, PhD
❓
Open Questions
Ask & answer
πŸ“‹
Survey
2–3 min
πŸ‘₯
Support Groups
Find your people

Anyone can ask. Sign in to answer. Peer support — not medical advice, and no PHI.

?
What do you wish you had known earlier?
3 answers Β· 12 following
Answer β†’
?
What has helped you most in managing day to day?
5 answers Β· 8 following
Answer β†’

Survey

πŸ“‹
Take a Patient Survey2–3 min Β· optional

Reflect on how you are doing β€” anonymous, with only de-identified group averages shown.

β–Ύ

Certified Centers of Excellence

CFF network

Care centers and specialists for Familial Bicuspid Aortic Valve, from Tomeko’s verified provider directory (CMS NPPES).

Boston Children's HospitalBoston, MA
Children's Hospital of PhiladelphiaPhiladelphia, PA
Cincinnati Children's HospitalCincinnati, OH
Stanford / Lucile Packard Children'sPalo Alto, CA
Johns HopkinsBaltimore, MD
Texas Children's HospitalHouston, TX

Representative CFF centers β€” the official CFF directory has the complete, current list.

β–Ύ

Nonprofits & Foundations

Grants & Financial Help

Financial Guidance CompassFree, personalized care-coordination and financial-guidance service for people with Familial Bicuspid Aortic Valve and their families.
HealthWell FoundationCopay and insurance-premium assistance for Familial Bicuspid Aortic Valve treatments.
Patient Access Network FoundationHelps cover out-of-pocket costs for Familial Bicuspid Aortic Valve medications.

Representative programs β€” illustrative only. Eligibility and availability vary; not a guarantee of assistance.

πŸ“Š
State of the Disease
2026 report
πŸ₯—
Getting Started Pack
PDF guide
🫁
Daily Management Guide
PDF Β· illustrated
πŸŽ“
College & Career Planning
PDF guide

Patient & Family Guides

Sources cited
πŸ“Š
2026 State of the Disease ReportPDF Β· updated 2026

An annual snapshot of Familial Bicuspid Aortic Valve research, treatment access and outcomes, written in plain language for patients and families.

πŸ₯—
Getting Started PackPDF guide

Practical starting points and things to plan for in the first year after diagnosis.

🫁
Daily Management GuidePDF Β· illustrated

Step-by-step guidance, what to expect, and a sample daily routine.

πŸŽ“
College & Career PlanningPDF guide

Disclosure, accommodations, insurance transitions and workplace planning for teens and young adults with Familial Bicuspid Aortic Valve.

Sources: GARD (NIH/NCATS), Orphanet Β· last reviewed 2026. Educational only β€” not medical advice.

Explore by Topic

🩺
Diagnosis & Symptoms
πŸ’Š
Medications
πŸ₯—
Nutrition
πŸ’š
Mental Health
πŸŽ’
School & Work
πŸ‘ͺ
Pregnancy & Family
🫁
Devices & Therapies
πŸ”„
Transplant
πŸ’³
Insurance & Costs
✈️
Travel

How this hub stays smart

Never stale

Trials, research and events refresh from live sources — current on every visit.

AI curation

Meko surfaces the newest, most relevant items and plain-languages the dense ones.

Personalized to you

Your role and the conditions you follow sync to your account — the same hub on any device you sign in from. Preferences only; never your health data.

Gets more complete

Anonymous, aggregate use shows what people search for and where answers are missing — the build-next list.

No PHI, ever. Insights are de-identified and aggregate (k ≥ 5).

Related Conditions

All Disease Hubs
✦ Meko
Your AI concierge
Try asking…

Meko adapts to your role. Educational; no PHI.