Syndromes affecting the heart

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

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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 |  |  |  |

## References

1. ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Search by disease name" (in en). https://www.orpha.net/consor/cgi-bin/Disease_Search_Simple.php?lng=EN&diseaseGroup=heart+syndromes. Retrieved 21 March 2019.
2. ↑ The British Medical Association illustrated medical dictionary. London: Dorling Kindersley. 2002. pp. 177, 536. ISBN 9780751333831. OCLC 51643555.

## External links

* What Is the Heart? – NIH

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