Rare Disease Report

5 Rare Heart Conditions

FEBRUARY 13, 2016
James Radke, PhD
Below are 5 little known conditions that affect the heart. If you or a loved one has one of these conditions, let us know. We would love to talk to you. If you do not have any of these conditions, be thankful for those who you love on this Valentine’s day.


Holt-Oram syndrome is characterized by abnormalities in the bones of the upper limb but about 75% of patients have cardiac problems that can be life threatening. Many patients have an atrial septal defect and/or cardiac conduction disease. The syndrome is also referred to as the ‘Heart-Hand Syndrome’.  


Eisenmenger syndrome is a rare congenital heart condition. The disorder is characterized by increased blood pressure in the pulmonary arteryand improper blood flow within the heart. ‘Clubbing’ of the hands is a common symptom.


Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a primary disease of heart muscle that results in fibrofatty replacement of the right ventricle and the subepicardial region of the left ventricle. The first clinical signs (syncope, heart palpitations, sudden cardiac death) may not appear unto adolescence and are often exercise related.


Right heart hypoplasia is a congenital heart defect in which the right atrium and right ventricle are underdeveloped. This defect causes inadequate blood flow to the lungs. A blue or cyanotic infant may indicate a right heart hypoplasia.


Tricuspid atresia is a congenital heart condition in which the tricuspid heart valve is missing or abnormally developed.

Multiple surgeries are needed for these babies but they can live well into adulthood.

images courtesy wikimedia commons.

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