Syndromes affecting the heart

chromosomal condition

chromosomal variation where a person is born with a 45X chromosome pattern rather than the typical 46XX

neurodevelopmental disorder caused by a deletion of around 27 genes in chromosome 7, characterized by a broad forehead, underdeveloped chin, short nose, full cheeks, challenges with visual tasks, increased empathy and decreased aggression

human disease

group of symptoms attributed to obstruction of the coronary arteries

human disease

heart conduction disease characterized by abnormal ECG findings

T cell deficiency disease that is the result of a large deletion of chromosome 22, which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production

congenital syndrome characterized by additional electrical pathways causing electrical conduction problems in the heart, leading to sporadic episodes of tachycardia and other symptoms.

condition involving delayed repolarization of the heart during the heartbeat cycle

congenital, genetically widespread disease considered to be a type of dwarfism affecting boys and girls equally

fetal heart defect

periodic fainting spell in which there is a periodic onset and offset of blockage of heart due to disorder of heart rhythm

congenital disorder of digestive system

disease

spontaneous return of a normal cardiac rhythm following failed resuscitation attempts

congenital heart disease characterized by abnormal development of the left-sided structures of the heart

spontaneous occuring or inherited mitochondrial myopathy with a typical onset before 20 years of age

rare disease

pericarditis characterized by inflammation, occurring after injury, located in pericardium

lipid metabolism disorder that has material basis in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin

Human disease

multiple congenital anomaly caused by deletion on chromosome 11, often featuring intellectual disabilities, dysmorphic features, delayed development and heart defects.

syndrome that is characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities

syndrome that is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina

syndrome that involves pre-excitation of the ventricles due to an accessory pathway providing an abnormal electrical communication from the atria to the ventricles

Human disease

rare autosomal dominant,[3] multisystem disease caused by a mutation in the protein tyrosine phosphatase, non-receptor type 11 gene (PTPN11)

medical condition

Human disease

autosomal dominant disease characterized by congenital anomalies located_in heart and located_in upper limb.

heart conduction disease that is characterized by heart arrhythmia defined as a short QT interval on an EKG (less than 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart

two situations that lead to cyanosis in infants

rare disease

syndrome characterized by craniofacial dysmorphology, cardiac defects, mild intellectual disability, and high birth weight followed by a failure to thrive and developmental delays

autosomal dominant disease that is characterized by cardiac, hand/foot, facial, and neurodevelopmental features; the two forms are type 1 (classic) and type 2, a rare form that has material basis in mutations in a transcript variant of CACNA1C

Human disease

rare genetic disorder

Human disease

genetic disorder that is X-linked dominant

nonpathological condition commonly seen in sports medicine

autosomal dominant disease characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity

autosomal recessive disease that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene

medical condition

McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations

medical condition

angina (chest pain) with signs associated with decreased blood flow to heart tissue but with normal coronary arteries

Human disease

developmental malformation syndrome characterized by craniofacial abnormalities, congenital heart defects, and cerebellar brain malformations.

medical condition

Human disease

medical condition

form of tachycardia which begins and ends in an acute (or paroxysmal) manner

human disease

CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy

medical condition

medical condition

genetic disorder

extremely rare chromosomal disorder occuring during human embryogenesis, causing severe abnormalities in fetal development and usually lethal in the prenatal stage

Human disease