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Rare Genetic Diseases of the Heart
Genetic diseases of the heart are those that are caused by a mutation in one or more genes that affect the structure or function of the heart muscle. Many of these diseases are rare, inherited only when one or both parents pass down the affected gene. Some of these conditions are especially common in certain communities or cultures where the populations are relatively isolated.
If you are experiencing serious medical symptoms, seek emergency treatment immediately.
Arrhythmogenic right ventricular dysplasia
Arrhythmogenic right ventricular dysplasia is a genetic disease in which normal heart tissue is progressively replaced with fat and scar tissue. According to St. Lukes-Roosevelt Hospital Center, tissue damage occurs predominantly in the right chamber of the heart 1. People who inherit this genetic disease may develop arrhythmias, or abnormal heart rhythms. Arrhythmogenic right ventricular dysplasia is a known cause of sudden death from cardiac arrest in people younger than 30. The condition is especially prevalent in communities in northeast Italy.
- Arrhythmogenic right ventricular dysplasia is a genetic disease in which normal heart tissue is progressively replaced with fat and scar tissue.
- Arrhythmogenic right ventricular dysplasia is a known cause of sudden death from cardiac arrest in people younger than 30.
Brugada Syndrome
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Brugada syndrome is a life-threatening, frequently inherited disorder characterized by an abnormal heart rhythm, called a Brugada sign, according to the Mayo Clinic 3. This arrhythmia prevents the chambers of the heart from pumping effectively, preventing blood from traveling normally throughout the body. As a result, fainting or sudden heart attack leading to death can occur.
Familial Dilated Cardiomyopathy
Dilated cardiomyopathy is a condition in which the heart’s left ventricle becomes enlarged and weak, reducing the heart’s ability to pump blood. Over time, the disorder can damage multiple organs and lead to congestive heart failure. According to the Cleveland Clinic, about one-third of patients with dilated cardiomyopathy have an inherited form called familial dilated cardiomyopathy. Familial dilated cardiomyopathy is autosomal dominant, meaning you need only to get the abnormal gene from one parent in order to inherit the condition.
- Dilated cardiomyopathy is a condition in which the heart’s left ventricle becomes enlarged and weak, reducing the heart’s ability to pump blood.
- Familial dilated cardiomyopathy is autosomal dominant, meaning you need only to get the abnormal gene from one parent in order to inherit the condition.
Long QT Syndrome
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Congenital long QT syndrome occurs in approximately 1 in 7,000 to 10,000 people in the United States, according to St. Lukes-Roosevelt Hospital Center 1. This condition is the result of gene mutations that lead to abnormal heart rhythms. A form of Long QT syndrome called Ward-Romano syndrome leads to abnormal electrical conduction in the heart that can cause fainting and sudden death, according to the Howard Hughes Medical Institute 2.
Ellis-van Creveld Syndrome
Ellis-van Creveld syndrome is a rare genetic condition commonly found among Amish people. In addition to short-limb dwarfism and other physical abnormalities, this syndrome causes a defect between the heart’s two upper chambers, or atria. These defects--known as atrial septal defects--can lead to shortness of breath, respiratory infections or arrhythmias, according to the Howard Hughes Medical Institute 2. Serious defects can lead to eventual heart failure.
- Ellis-van Creveld syndrome is a rare genetic condition commonly found among Amish people.
- These defects--known as atrial septal defects--can lead to shortness of breath, respiratory infections or arrhythmias, according to the Howard Hughes Medical Institute 2.
Other Rare Genetic Diseases
Holt-Orams syndrome is a genetic disorder affecting approximately 1 in 100,000 individuals, according to the National Institutes of Health. The condition causes life-threatening heart defects and abnormally developed bones in the upper limbs. The most common defect seen in those with Holt-Orams syndrome is a hole in the septum between the atria. Some people may develop a hole in the septum between the lower heart chambers. In other cases, cardiac conduction disease can occur, causing a slower-than-normal heart beat called bradycardia or a rapid, uncoordinated heart contraction called fibrillation.
Marfan Syndrome is an inherited disorder of the connective tissue that affects roughly 1 in 5,000 people, according to the National Institutes of Health. It can cause structural heart abnormalities that lead to arrhythmias, palpitations, shortness of breath and fatigue. A weakening and stretching of the aorta can lead to life-threatening complications, including a bulge in a blood vessel wall called an aneurysm or a tearing of the the wall of the aorta.
Familial hypertrophic cardiomyopathy is a complex heart disease that may be caused by one of 900 known mutations on 12 different genes, according to the National Institutes of Health. The condition causes a thickening of the heart muscle wall. While it may cause no symptoms in some people, it can lead to fainting, chest pain, shortness of breath or--in rare cases--sudden death.
- Holt-Orams syndrome is a genetic disorder affecting approximately 1 in 100,000 individuals, according to the National Institutes of Health.
- A weakening and stretching of the aorta can lead to life-threatening complications, including a bulge in a blood vessel wall called an aneurysm or a tearing of the the wall of the aorta.
Related Articles
References
- St. Luke’s-Roosevelt Hospital Center: Genetic Heart Diseases
- Howard Hughes Medical Institute: Heart Diseases
- Mayo Clinic: Brugada Syndrome
- Subramaniam V, Lip GY. Hypertension to heart failure: a pathophysiological spectrum relating blood pressure, drug treatments and stroke. Expert Rev Cardiovasc Ther. 2009;7(6):703-13. doi:10.1586/erc.09.43
- Kumar S, Stevenson WG, John RM. Arrhythmias in dilated cardiomyopathy. Card Electrophysiol Clin. 2015;7(2):221-33. doi:10.1016/j.ccep.2015.03.005
- Zhao L, Zhang B. Doxorubicin induces cardiotoxicity through upregulation of death receptors mediated apoptosis in cardiomyocytes. Sci Rep. 2017;7:44735. doi:10.1038/srep44735
- Mubarik A, Muhammad Iqbal A. Postpartum Cardiomyopathy. Treasure Island, Fl: StatPearls Publishing; 2019.
- Skrzynia C, Berg JS, Willis MS, Jensen BC. Genetics and heart failure: a concise guide for the clinician. Curr Cardiol Rev. 2015;11(1):10-7. doi:10.2174/1573403X09666131117170446
- O'mahony C, Elliott P, Mckenna W. Sudden cardiac death in hypertrophic cardiomyopathy. Circ Arrhythm Electrophysiol. 2013;6(2):443-51. doi:10.1161/CIRCEP.111.962043
- Alpert MA, Lavie CJ, Agrawal H, Aggarwal KB, Kumar SA. Obesity and heart failure: epidemiology, pathophysiology, clinical manifestations, and management. Transl Res. 2014;164(4):345-56. doi:10.1016/j.trsl.2014.04.010
- Lavie CJ, Ozemek C, Carbone S, Katzmarzyk PT, Blair SN. Sedentary Behavior, Exercise, and Cardiovascular Health. Circ Res. 2019;124(5):799-815. doi:10.1161/CIRCRESAHA.118.312669
- Czepluch FS, Wollnik B, Hasenfuß G. Genetic determinants of heart failure: facts and numbers. ESC Heart Fail. 2018 Feb 19. doi: 10.1002/ehf2.12267. [Epub ahead of print]
- Dipchand AI Current state of pediatric cardiac transplantation. Ann Cardiothorac Surg. 2018 Jan;7(1):31-55. doi: 10.21037/acs.2018.01.07.
- Nayor M, Vasan RS. Preventing heart failure: the role of physical activity. Curr Opin Cardiol. 2015 Sep;30(5):543-50. doi: 10.1097/HCO.0000000000000206.
- Richards JR, Harms BN, Kelly A,Turnipseed SD.Methamphetamine use and heart failure: Prevalence, risk factors, and predictors. Am J Emerg Med. 2018 Jan 3. pii: S0735-6757(18)30001-9. doi: 10.1016/j.ajem.2018.01.001. [Epub ahead of print]
- Timmermans I, Denollet J, Pedersen SS, Meine M, Versteeg H. Patient-reported causes of heart failure in a large European sample. Int J Cardiol. 2018 May 1;258:179-184. doi: 10.1016/j.ijcard.2018.01.113. Epub 2018 Feb 6.
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Writer Bio
Based in New York City, Tricia Mangan began her writing career in 2001. She has co-authored a National Cancer Institute report and a number of research articles that have appeared in medical journals. Tricia holds a Master of Arts in clinical psychology from Stony Brook University and boasts diverse clinical, research and teaching experience.