Cardiovascular Rare Diseases

Detail about our service

Categorization Details

Rare Diseases affecting cardiovascular system – mainly heart, blood vessels (arteries & veins) and blood cells – are enlisted below. There might be some rare diseases that affect other organs or multiple organs. Those, diseases are listed in other organs as well.


We are still developing our full-fledged webpages. However, if you do not find information you are looking for, please contact us at We will be happy to research for you and provide you the information as best as we can.

  • Heart
  • Blood vessels (arteries and veins)
  • Blood cells (Red Blood Cells, White Blood Cells, Platelets)

List of Cardiovascular Rare Diseases

Abdominal aortic aneurysm

Abdominal aortic aneurysms (AAAs) are aneurysms (focal dilation of blood vessel with respect to the original artery) that occur in the part of the aorta that passes through the abdomen.

Further Reference: NIH


Alpha mannosidosis  is a lysosomal storage disorder caused by autosomal recessive genetic mutation in MAN2B1 gene which is located in chromosome 19. It affects on production of enzyme alpha-D-mannosidase, leads to its deficiency.

Further Reference: NIH

Alström syndrome

Alström syndrome is a rare autosomal recessive genetic disorder caused by mutation in ALMS1 gene that affects many body systems.

Further Reference: NIH


Andersen-Tawil syndrome

Andersen-Tawil syndrome is a genetic disorder whis is a type of long QT syndrome and is also considered a rare form of periodic paralysis. It is caused by mutation in KCNJ2 gene.

Further Reference: NIH

Arrhythmogenic right ventricular cardiomyopathy

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart disease, in which the muscle of the right ventricle of the heart is replaced by Fibrofatty tissues. The condition is progressive and over time the right ventricle loses the ability to pump blood.

Further Reference: NIH

Arthrochalasia Ehlers-Danlos syndrome

Arthrochalasia Ehlers-Danlos syndrome (aEDS) is an inherited connective tissue disorder caused by mutation in COL1A1 gene or COL1A2 gene, results defected collagen proteins.

Further Reference: NIH

Atrial myxoma, familial

Familial atrial myxoma is a cardiac tumor characterized by the presence of a primary, benign (non cancerous tumor), gelatinous mass located in the atria and composed of primitive connective tissue cells and stroma in several members of a family.

Further Reference: NIH

Suggest Edits

You may suggest edits to update the disease information at

Our team updates the information at our webpages at regular intervals. With new research and publications, science related to rare diseases keeps updating at rapid pace. Thus, we understand that there are chances of human error and we are always looking forward to improving and providing up-to-date information to our readers. We welcome your feedback to improve information and tools that we provide.

Submit Edits