Rare genetic cardiac disease

Last reviewed March 21, 2026

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ORPHA:98054

Who is this for?

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13Specialists 8Treatment centers

Where are you in your journey?

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UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.

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Overview

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Rare genetic cardiac disease.

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Clinical Trials

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No actively recruiting trials found for Rare genetic cardiac disease at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Rare genetic cardiac disease community →

Specialists

13 foundView all specialists →

MM

Michael R Knowles, MD

CHAPEL HILL, NC

Specialist

Primary ciliary dyskinesia, Kartagener type Pseudohypoaldosteronism Rare genetic renal disease+4 more

PI on 1 active trial

Active trials Directions Travel grants

MM

Manfred Boehm, M.D.

Bethesda, Maryland

Specialist

Rare Disease Specialist

Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy Congenital aortic valve stenosis Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability+8 more

PI on 7 active trials

Active trials Directions Travel grants

AM

Alessandro Pini, MD

San Donato Milanese, Lombardy

Specialist

Rare Disease Specialist

IMAGe syndrome Marfan syndrome Marfan syndrome type 1+9 more

PI on 3 active trials

Active trials Directions Travel grants

SP

Staci M Peron, Ph.D.

Bethesda, Maryland

Specialist

Rare Disease Specialist

Cardiofaciocutaneous syndrome Costello syndrome Diffuse astrocytoma+28 more

PI on 8 active trials

Active trials Directions Travel grants

SM

Soledad Kleppe, MD

Specialist

Adrenogenital syndrome Autoimmune lymphoproliferative syndrome Congenital adrenal hyperplasia+62 more

PI on 1 active trial

Active trials Directions Travel grants

SM

Sophie DUPUIS-GIROD, MD

Specialist

Hereditary hemorrhagic telangiectasia Marfan syndrome and Marfan-related disorders Marfan syndrome type 1+11 more

PI on 3 active trials

Active trials Directions Travel grants

MP

Maria Lourdes Posadas Martinez, PhD

Specialist

Adrenogenital syndrome Autoimmune lymphoproliferative syndrome Congenital adrenal hyperplasia+61 more

PI on 1 active trial

Active trials Directions Travel grants

PP

Peter Nordbeck, MD, PhD

Specialist

Fabry disease Lysosomal disease with hypertrophic cardiomyopathy Rare genetic renal disease+2 more

PI on 2 active trials

Active trials Directions Travel grants

MP

Marcelo Serra, PhD

Buenos Aires, Buenos Aires

Specialist

Rare Disease Specialist

Adrenogenital syndrome Autoimmune lymphoproliferative syndrome Congenital adrenal hyperplasia+62 more

PI on 1 active trial

Active trials Directions Travel grants

PM

Priya Kishnani, M.D.

DURHAM, NC

Specialist

Danon disease Muscular glycogenosis Polyglucosan body myopathy type 1+4 more

PI on 1 active trial

Active trials Directions Travel grants

RP

Rosanna Cardani, PhD

San Donato Milanese, Milan

Specialist

Rare Disease Specialist

Marfan syndrome Marfan syndrome type 1 Neonatal Marfan syndrome+16 more

PI on 1 active trial

Active trials Directions Travel grants

MM

Michael N Sack, M.D.

SPEARFISH, SD

Specialist

Coronary artery congenital malformation Genetic cardiac tumor Genetic obesity+15 more

PI on 3 active trials

Active trials Directions Travel grants

GM

Giuliana Trifirò, MD

San Donato Milanese, Lombardy

Specialist

Rare Disease Specialist

Norrie disease Rare bone development disorder Rare genetic bone development disorder+2 more

PI on 1 active trial1 Rare genetic cardiac disease publication

Active trials Directions Travel grants

Treatment Centers

8 centers

Baylor College of Medicine Rare Disease Center ↗

Baylor College of Medicine

📍 Houston, TX

Stanford Medicine Rare Disease Center ↗

Stanford Medicine

📍 Stanford, CA

NIH Clinical Center Undiagnosed Diseases Program ↗

National Institutes of Health

📍 Bethesda, MD

UCLA UDN Clinical Site ↗

UCLA Health

📍 Los Angeles, CA

Baylor College of Medicine UDN Clinical Site ↗

Baylor College of Medicine

📍 Houston, TX

Harvard/MGH UDN Clinical Site ↗

Massachusetts General Hospital

📍 Boston, MA

Mayo Clinic Center for Individualized Medicine ↗

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

UCLA Rare Disease Day Program ↗

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Rare genetic cardiac disease.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Rare genetic cardiac disease

No recent news articles for Rare genetic cardiac disease.

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Common questions about Rare genetic cardiac disease

Which specialists treat Rare genetic cardiac disease?

13 specialists and care centers treating Rare genetic cardiac disease are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.