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Syndromes affecting the heart information


A syndrome is a set of medical signs and symptoms that are correlated with each other. A syndrome can affect one or more of body systems. Different syndromes affect different groups of organs. This is a list of syndromes that may affect the heart. Syndromes affecting primarily the heart are written in bold letters. [1][2]

Syndrome Cause cardiac signs and symptoms Other symptoms or organs affected Notes
1q21.1 deletion syndrome genetic (Chromosome 1) Cardiovascular anomalies are present in 30% of the cases (for example anomalous origin of the coronary artery in "Class II-deletion")
  • TAR syndrome
  • Neuropsychiatric
  • Craniofacial abnormalities
  • Eye
  • Kidney
DiGeorge syndrome genetic (Chromosome 22) commonly interrupted aortic arch, truncus arteriosus and tetralogy of Fallot
  • Craniofacial
  • Thymic aplasia
  • Cleft palate
  • Hypocalcemia/hypoparathyroidism
Acute coronary syndrome Commonly associated with three clinical manifestations: ST elevation myocardial infarction (STEMI, 30%), non ST elevation myocardial infarction (NSTEMI, 25%), or unstable angina (38%)
Blockage of a coronary artery
Adams–Nance syndrome maybe disturbance in glycine metabolism persistent tachycardia, paroxymal hypertension
  • Seizure
  • Eye (Microphthalmia, Cataract)
Alagille syndrome genetic (Autosomal dominant inheritance: loss of function mutations in either JAG1 or NOTCH2) Congenital heart problems e.g. pulmonary artery stenosis (common), Tetralogy of Fallot, overriding aorta, ventricular septal defect; and right ventricular hypertrophy. Liver (jaundice, pruritus, hepatosplenomegaly, acholia, xanthoma)
Andersen–Tawil syndrome
This condition affects the QT interval (in blue)
Antley–Bixler syndrome
Barth syndrome
Brugada syndrome
Cantú syndrome genetic (Chromosome 12, autosomal dominant)
Cardiac syndrome X
Cardiorenal syndrome Kidney
Cat eye syndrome
CHARGE syndrome
Coffin–Lowry syndrome genetic (RPS6KA3 gene mutation, Chromosome X)
Costello syndrome
Down syndrome genetic (Chromosome 21)
Dressler syndrome autoimmune inflammatory reaction secondary to MI.
Edwards syndrome genetic (Chromosome 18)
Eisenmenger's syndrome
Ellis–van Creveld syndrome
Emanuel syndrome
HEC syndrome
Heyde's syndrome
Ho–Kaufman–Mcalister syndrome
Holt–Oram syndrome ASD, and a first degree heart block.
Hypoplastic left heart syndrome
Jacobsen syndrome genetic (Chromosome 11q deletion)
Jaffe–Campanacci syndrome
Jervell and Lange-Nielsen syndrome genetic (autosomal recessive) a type of long QT syndrome
Kabuki syndrome
Kearns–Sayre syndrome
Long QT syndrome
Lutembacher's syndrome
Malpuech facial clefting syndrome
Marden–Walker syndrome
Marfan syndrome
McKusick–Kaufman syndrome
McLeod syndrome
Noonan syndrome
Noonan syndrome with multiple lentigines
Ortner's syndrome
Bouveret Hoffmann syndrome another name for "Paroxysmal tachycardia"
Patau syndrome genetic (Chromosome 13)
Pre-excitation syndrome
Romano–Ward syndrome
Scimitar syndrome
Shone's syndrome
Short QT syndrome
Sick sinus syndrome
Taussig–Bing syndrome double outlet right ventricle (DORV) and subpulmonic VSD. a cyanotic congenital heart defect
Timothy syndrome
Townes–Brocks syndrome
Triploid syndrome
Turner syndrome
VACTERL syndrome
Wellens' syndrome
Williams syndrome
Wolff–Parkinson–White syndrome
A Delta wave often seen in an affected individual
Zunich–Kaye syndrome
Lown–Ganong–Levine syndrome
  1. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Search by disease name". www.orpha.net. Retrieved 21 March 2019.{{cite web}}: CS1 maint: numeric names: authors list (link)
  2. ^ The British Medical Association illustrated medical dictionary. London: Dorling Kindersley. 2002. pp. 177, 536. ISBN 9780751333831. OCLC 51643555.

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Syndromes affecting the heart

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Different syndromes affect different groups of organs. This is a list of syndromes that may affect the heart. Syndromes affecting primarily the heart are written...

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Noonan syndrome

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Noonan syndrome (NS) is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems...

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Acute coronary syndrome

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syndromes present with symptoms other than chest pain, particularly women, older people, and people with diabetes mellitus. Acute coronary syndrome is...

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Long QT syndrome

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Long QT syndrome (LQTS) is a condition affecting repolarization (relaxing) of the heart after a heartbeat, giving rise to an abnormally lengthy QT interval...

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Down syndrome

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generally as great an issue as in other syndromes associated with intellectual disability. In children with Down syndrome, mental illness occurs in nearly 30%...

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Williams syndrome

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Williams Syndrome - A case report. Contemp Clin Dent. 2015 Jul-Sep;6(3):418-20. Cassidy SB; Allanson JE (5 April 2010). Management of Genetic Syndromes. John...

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Marfan syndrome

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cataracts. The most serious signs and symptoms associated with Marfan syndrome involve the cardiovascular system: undue fatigue, shortness of breath, heart palpitations...

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Brugada syndrome

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Brugada syndrome (BrS) is a genetic disorder in which the electrical activity of the heart is abnormal due to channelopathy. It increases the risk of...

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DiGeorge syndrome

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Sullivan KE (October 2007). "Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes". Lancet. 370 (9596): 1443–52. doi:10...

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Blue baby syndrome

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Respiratory distress syndrome Specific types of congenital heart defects that cause blood to pass directly from the right side of the heart to the left side result...

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Alagille syndrome

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Alagille syndrome (ALGS) is a genetic disorder that affects primarily the liver and the heart. Problems associated with the disorder generally become evident...

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Hypoplastic left heart syndrome

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Hypoplastic left heart syndrome (HLHS) is a rare congenital heart defect in which the left side of the heart is severely underdeveloped and incapable...

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McLeod syndrome

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McLeod syndrome (/məˈklaʊd/ mə-KLOWD) is an X-linked recessive genetic disorder that may affect the blood, brain, peripheral nerves, muscle, and heart. It...

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1p36 deletion syndrome

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segment of DNA) on the outermost band on the short arm (p) of chromosome 1. It is one of the most common deletion syndromes. The syndrome is thought to affect...

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Trisomy 18

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known as Edwards syndrome, is a genetic disorder caused by the presence of a third copy of all or part of chromosome 18. Many parts of the body are affected...

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Turner syndrome

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technology. Heart defects, diabetes, and hypothyroidism occur in the disorder more frequently than average. Most people with Turner syndrome have normal...

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Eisenmenger syndrome

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Eisenmenger syndrome or Eisenmenger's syndrome is defined as the process in which a long-standing left-to-right cardiac shunt caused by a congenital heart defect...

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13q deletion syndrome

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13q deletion syndrome: congenital heart disease, anorectal/genitourinary, and gastrointestinal tract malformations. These are all part of the VACTERL associations...

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CHARGE syndrome

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List of syndromes Characteristics of syndromic ASD conditions Pagon RA, Graham JM, Zonana J, Yong SL (August 1981). "Coloboma, congenital heart disease...

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Patau syndrome

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Patau syndrome is a syndrome caused by a chromosomal abnormality, in which some or all of the cells of the body contain extra genetic material from chromosome...

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Carney complex

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subsets LAMB syndrome and NAME syndrome are autosomal dominant conditions comprising myxomas of the heart and skin, hyperpigmentation of the skin (lentiginosis)...

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Sinus node dysfunction

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sick sinus syndrome (SSS), is a group of abnormal heart rhythms (arrhythmias) usually caused by a malfunction of the sinus node, the heart's primary pacemaker...

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