Risk factors for long QT syndrome include the following:

- female sex

- increasing age

- liver or renal impairment

- family history of congenital long QT syndrome

- pre-existing cardiovascular disease

- electrolyte imbalance: especially hypokalemia, hypocalcemia, hypomagnesemia

- concurrent administration of interacting drugs

Anorexia nervosa has been associated with sudden death, possibly due to QT prolongation. It can lead a person to have dangerous electrolyte imbalances, leading to acquired long QT syndrome and can in turn result in sudden cardiac death. This can develop over a prolonged period of time, and the risk is further heightened when feeding resumes after a period of abstaining from consumption. Care must be taken under such circumstances to avoid complications of refeeding syndrome.

The risk for untreated LQTS patients having events (syncopes or cardiac arrest) can be predicted from their genotype (LQT1-8), gender, and corrected QT interval.

- High risk (> 50%) - QTc > 500 ms, LQT1, LQT2, and LQT3 (males)

- Intermediate risk (30-50%) - QTc > 500 ms, LQT3 (females) or QTc < 500 ms, LQT2 (females) and LQT3

- Low risk (< 30%) - QTc < 500 ms, LQT1 and LQT2 (males)

A 1992 study reported that mortality for symptomatic, untreated patients was 20% within the first year and 50% within the first 10 years after the initial syncope.

The cause of short QT syndrome is unclear at this time. A current hypothesis is that short QT syndrome is due to increased activity of outward potassium currents in phase 2 and 3 of the cardiac action potential. This would cause a shortening of the plateau phase of the action potential (phase 2), causing a shortening of the overall action potential, leading to an overall shortening of refractory periods and the QT interval.

In the families afflicted by short QT syndrome, mutations have been described in three genes, KvLQT1, the "human ether-a-go-go gene (HERG)", and KCNJ2.

This condition is incredibly rare, with only 100 cases reported worldwide, however there are thought to be many cases that have been left undiagnosed. It is either inherited from at least one parent containing the mutated gene. or it can be gained through the mutation of the KCNJ2 gene.

The number of people affected by Brugada ECG is higher in Asia than in the United States and Europe. Specifically, Brugada Type 1 ECG appears more frequently in Asia (0%–0.36% of the population) and Europe (0%–0.25%) than in the United States (0.03%). Type 2 and Type 3 ECG is more prevalent in Asia (0.12%–2.23%) than in Europe (0.0%–0.6%) or the United States (0.02%).

It is the most common cause of sudden death in young men without known underlying cardiac disease in Thailand and Laos.

The prognosis for patients diagnosed with Timothy syndrome is very poor. Of 17 children analyzed in one study, 10 died at an average age of 2.5 years. Of those that did survive, 3 were diagnosed with autism, one with an autism spectrum disorder, and the last had severe delays in language development. One patient with atypical Timothy syndrome was largely normal with the exception of heart arrhythmia. Likewise, the mother of two Timothy syndrome patients also carried the mutation but lacked any obvious phenotype. In both of these cases, however, the lack of severity of the disorder was due to mosaicism.

Some individuals with short QT syndrome frequently complain of palpitations and may have unexplained syncope (loss of consciousness). Mutations in the "KCNH2", "KCNJ2", and "KCNQ1" genes cause short QT syndrome. These genes provide instructions for making proteins that act as channels across the cell membrane. These channels transport positively charged atoms (ions) of potassium into and out of cells. In cardiac muscle, these ion channels play critical roles in maintaining the heart's normal rhythm. Mutations in the "KCNH2", "KCNJ2", or "KCNQ1" gene increase the activity of the channels, which changes the flow of potassium ions between cells. This disruption in ion transport alters the way the heart beats, leading to the abnormal heart rhythm characteristic of short QT syndrome. Short QT syndrome appears to have an autosomal dominant pattern of inheritance.

Short QT syndrome is associated with an increased risk of sudden cardiac death, most likely due to ventricular fibrillation.

Romano–Ward syndrome is inherited in an autosomal dominant pattern. It is the most common form of inherited long QT syndrome, affecting an estimated 1 in 7,000 people worldwide. It should be mentioned that "long QT syndrome" has 6 different variations, therefore Romano–Ward syndrome is one of many

Andersen–Tawil syndrome, also called Andersen syndrome and Long QT syndrome 7, is a form of long QT syndrome. It is a rare genetic disorder, and is inherited in an autosomal dominant pattern and predisposes patients to cardiac arrhythmias. Jervell and Lange-Nielsen Syndrome is a similar disorder which is also associated with sensorineural hearing loss. It was first described by Ellen Damgaard Andersen.

JLNS patients with "KCNQ1" mutations are particularly prone to pathological lengthening of the QT interval, which predisposes them to episodes of "torsades de pointes" and sudden cardiac death. In this context, if the patient has had syncopal episodes or history of cardiac arrest, an implantable cardiac defibrillator should be used in addition to a beta blocker such as propranolol.

Romano–Ward syndrome is the major variant of "long QT syndrome". It is a condition that causes a disruption of the heart's normal rhythm. This disorder is a form of long QT syndrome, which is a heart condition that causes the cardiac muscle to take longer than usual to recharge between beats; if untreated, the irregular heartbeats can lead to fainting, seizures, or sudden death

Brugada syndrome (BrS) is a genetic condition that results in abnormal electrical activity within the heart, increasing the risk of sudden cardiac death. Those affected may have episodes of passing out. Typically this occurs when a person is at rest.

It is often inherited from a person's parent with about a quarter of people having a family history. Some cases may be due to a new mutation or certain medications. The abnormal heart rhythms can be triggered by a fever or increased vagal tone. Diagnosis is typically by electrocardiogram (ECG), however, the abnormalities may not be consistently present.

Treatment may be with an implantable cardioverter defibrillator (ICD). Isoproterenol may be used in those who are acutely unstable. In those without symptoms the risk of death is much lower, and how to treat this group is unclear. Testing people's family members may be recommended.

Between 1 and 30 per 10,000 people are affected. Onset of symptoms is usually in adulthood. It is more common in people of Asian descent. Males are more commonly affected than females. It is named after the Spanish cardiologists Pedro and Josep Brugada who described the condition in 1992. Their brother Ramon Brugada described the underlying genetics in 1998.

Timothy syndrome is a rare autosomal dominant disorder characterized by physical malformations, as well as neurological and developmental defects, including heart QT-prolongation, heart arrhythmias, structural heart defects, syndactyly (webbing of fingers and toes) and autism spectrum disorders.

Timothy syndrome often ends in early childhood death.

Jervell and Lange-Nielsen syndrome (JLNS) is a type of long QT syndrome associated with severe, bilateral sensorineural hearing loss. Long QT syndrome causes the cardiac muscle to take longer than usual to recharge between beats. If untreated, the irregular heartbeats, called arrhythmias, can lead to fainting, seizures, or sudden death. It was first described by Anton Jervell and Fred Lange-Nielsen in 1957.

More than 80% of children with Patau syndrome die within the first year of life. Children with the mosaic variation are usually affected to a lesser extent. In a retrospective Canadian study of 174 children with trisomy 13, median survival time was 12.5 days. One and ten year survival was 19.8% and 12.9% respectively.

Knowledge that TdP may occur in patients taking certain prescription drugs has been both a major liability and reason for retirement of these medications from the marketplace. Examples of compounds linked to clinical observations of TdP include amiodarone, fluoroquinolones, methadone, lithium, chloroquine, erythromycin, amphetamine, ephedrine, pseudoephedrine, methylphenidate, and phenothiazines. It has also been shown as a side effect of certain anti-arrhythmic medications, such as sotalol, procainamide, and quinidine. The gastrokinetic drug cisapride (Propulsid) was withdrawn from the US market in 2000 after it was linked to deaths caused by long QT syndrome-induced torsades de pointes. In many cases, this effect can be directly linked to QT prolongation mediated predominantly by inhibition of the hERG channel.

In September 2011 (subsequently updated in March 2012 and February 2013), the FDA issued a warning concerning increased incidence of QT prolongation in patients prescribed doses of the antidepressant Celexa (citalopram) above 40 mg per day, considered the maximum allowable dosage, thereby increasing the risk of Torsades. However, a study, "Evaluation of the FDA Warning Against Prescribing Citalopram at Doses Exceeding 40 mg," reported no increased risk of abnormal arrhythmias, thus questioning the validity of the FDA's warning.

Affected individuals have a somewhat shortened lifespan. The maximum described lifespan is 67 years. Adults with 13q deletion syndrome often need support services to maintain their activities of daily living, including adult day care services or housing services.

Males with pathogenic "MECP2" mutations usually die within the first 2 years from severe encephalopathy, unless they have an extra X chromosome (often described as Klinefelter syndrome), or have somatic mosaicism.

Male fetuses with the disorder rarely survive to term. Because the disease-causing gene is located on the X chromosome, a female born with an MECP2 mutation on her X chromosome has another X chromosome with an ostensibly normal copy of the same gene, while a male with the mutation on his X chromosome has no other X chromosome, only a Y chromosome; thus, he has no normal gene. Without a normal gene to provide normal proteins in addition to the abnormal proteins caused by a MECP2 mutation, the XY karyotype male fetus is unable to slow the development of the disease, hence the failure of many male fetuses with a MECP2 mutation to survive to term.

Females with a MECP2 mutation, however, have a non-mutant chromosome that provides them enough normal protein to survive longer. Research shows that males with Rett syndrome may result from Klinefelter's syndrome, in which the male has an XXY karyotype. Thus, a non-mutant "MECP2" gene is necessary for a Rett's-affected embryo to survive in most cases, and the embryo, male or female, must have another X chromosome.

There have, however, been several cases of 46,XY karyotype males with a MECP2 mutation (associated with classical Rett syndrome in females) carried to term, who were affected by neonatal encephalopathy and died before 2 years of age. The incidence of Rett syndrome in males is unknown, partly owing to the low survival of male fetuses with the Rett syndrome-associated MECP2 mutations, and partly to differences between signs caused by MECP2 mutations and those caused by Rett's.

Females can live up to 40 years or more. Laboratory studies on Rett syndrome may show abnormalities such as:

- EEG abnormalities from 2 years of age

- atypical brain glycolipids

- elevated CSF levels of "beta"-endorphin and glutamate

- reduction of substance P

- decreased levels of CSF nerve growth factors

A high proportion of deaths are abrupt, but most have no identifiable cause; in some instances death is the result most likely of:

- spontaneous brainstem dysfunction

- cardiac arrest, likely due to long QT syndrome, ventricular tachycardia or other arrhythmias

- seizures

- gastric perforation

Males are twice as likely as females to have this characteristic, and it tends to run in families. In its non-symptomatic form, it is more common among Asians and Native Americans than among other populations, and in some families there is a tendency to inherit the condition unilaterally, that is, on one hand only.

The presence of a single transverse palmar crease can be, but is not always, a symptom associated with abnormal medical conditions, such as fetal alcohol syndrome, or with genetic chromosomal abnormalities, including Down Syndrome (chromosome 21), cri du chat syndrome (chromosome 5), Klinefelter syndrome, Wolf-Hirschhorn Syndrome, Noonan syndrome (chromosome 12), Patau syndrome (chromosome 13), IDIC 15/Dup15q (chromosome 15), Edward's syndrome (chromosome 18), and Aarskog-Scott syndrome (X-linked recessive), or autosomal recessive disorder, such as Leaukocyte adhesion deficiency-2 (LAD2). A unilateral single palmar crease was also reported in a case of chromosome 9 mutation causing Nevoid basal cell carcinoma syndrome and Robinow syndrome. It is also sometimes found on the hand of the affected side of patients with Poland Syndrome, and craniosynostosis.

Common causes for torsades de pointes include diarrhea, low blood magnesium, and low blood potassium. It is commonly seen in malnourished individuals and chronic alcoholics, due to a deficiency in potassium and/or magnesium. Certain combinations of drugs resulting in drug interactions can contribute to torsades de pointes risk. QT prolonging medications such as clarithromycin, levofloxacin, or haloperidol, when taken concurrently with cytochrome P450 inhibitors, such as fluoxetine, cimetidine, or particular foods including grapefruit, can result in higher-than-normal levels of medications that prolong the QT interval in the bloodstream and therefore increase a person's risk of developing torsades de pointes. In addition, inherited long QT syndrome significantly increases the risk of episodes of TdP.

Unless one of the parents is a carrier of a translocation, the chances of a couple having another trisomy 13 affected child is less than 1% (less than that of Down syndrome). The most common characteristics of this syndrome are problems such as late development, mental disability, multiple malformations, cardiopathy, and kidney abnormalities. The most common physical signs for Patau Syndrome are the decreasing of muscle tone, small hands, small ears, small head and mouth, as well as wide and short hands with short fingers. Physical development for children affected by Patau Syndrome occurs more slowly than children without Patau syndrome. However, children affected by Patau Syndrome should still undergo regular physical activity, even though muscle development may occur more slowly.

Though the prevalence of Angelman syndrome is not precisely known, there are some estimates. The best data available are from studies of school age children, ages 6–13 years, living in Sweden and from Denmark where the diagnosis of AS children in medical clinics was compared to an 8-year period of about 45,000 births. The Swedish study showed an AS prevalence of about 1/20,000 and the Danish study showed a minimum AS prevalence of about 1/10,000.

Individuals with Dup15q syndrome are at high risk for epilepsy, autism, and intellectual disability. Motor impairments are very common in individuals with the disorder. Rates of epilepsy in children with isodicentric duplications are higher than in children with interstitial duplications. A majority of patients with either duplication type (isodicentric or interstitial) have a history of gastrointestinal problems.

A study at the University of California, Los Angeles (UCLA) of 13 children with Dup15q syndrome and 13 children with nonsyndromic ASD (i.e., autism not caused by a known genetic disorder) found that, compared to children with nonsyndromic autism, children with Dup15q had significantly lower autism severity as measured by the Autism Diagnostic Observation Schedule (ADOS) (all children in the study met diagnostic criteria for ASD). However, children with Dup15q syndrome had significantly greater motor impairment and impairment of daily living skills than children in the nonsyndromic ASD group. Within the Dup15q syndrome cohort, children with epilepsy had greater cognitive impairment.

The true prevalence of PMS has not been determined. More than 1200 people have been identified worldwide according the Phelan-McDermid Syndrome Foundation. However, it is believed to be underdiagnosed due to inadequate genetic testing and lack of specific clinical features. It is known to occur with equal frequency in males and females. Studies using chromosomal microarray for diagnosis indicate that at least 0.5% of cases of ASD can be explained by mutations or deletions in the "SHANK3" gene. In addition when ASD is associated with ID, "SHANK3" mutations or deletions have been found in up to 2% of individuals.

Dup15q syndrome is the common name for chromosome 15q11.2-q13.1 duplication syndrome. This is a neurodevelopmental disorder, caused by the partial duplication of Chromosome 15, that confers a strong risk for autism spectrum disorder, epilepsy, and intellectual disability. It is the most common genetic cause of autism, accounting for approximately 1-3% of cases. Dup15q syndrome includes both interstitial duplications and isodicentric duplications (i.e., Idic15) of 15q11.2-13.1.

Important genes likely involved in the etiology of Dup15q syndrome include "UBE3A", "GABRA5", "GABRB3", and "GABRG3". "UBE3A" is a ubiquitin-protein ligase that is involved in targeting proteins for degradation and plays an important role in synapse function. "GABRA5", "GABRB3", and "GABRG3" are gamma aminobutyric acid type A (GABA) receptor subunit genes and are likely important in Dup15q syndrome given the established role of GABA in the etiologies of autism and epilepsy.