• Disease Overview
  • Synonyms
  • Signs & Symptoms
  • Causes
  • Affected Populations
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  • Complete Report

Timothy Syndrome


Last updated: April 07, 2021
Years published: 2005, 2017, 2020


NORD gratefully acknowledges Alessandro Trancuccio, MD and Silvia G. Priori, MD, PhD, Molecular Cardiology, IRCCS, Istituti Clinici Scientifici Maugeri, Department of Molecular Medicine, University of Pavia, Pavia, Italy, and the Timothy Syndrome Alliance for assistance in the preparation of this report.

Disease Overview


Timothy syndrome (TS), also referred to as long QT syndrome type 8 (LQT8), is a rare multisystem genetic disorder affecting the heart and several other organs, including the skeleton, metabolic system, and brain [1–3]. The most relevant heart manifestation of TS is the prolongation of the time required by the heart to complete a cycle of its electrical activity, known as the “QT interval”. TS belongs to a heterogeneous group of diseases collectively classified as “long QT syndrome” or LQTS. The QT interval prolongation predisposes patients to a high risk of developing cardiac arrhythmias and experiencing cardiac arrest from a very young age [4].

The main feature that distinguishes TS from other forms of LQTS is that it presents additional clinical manifestations, both heart (cardiac) and extra-cardiac. These include cardiac malformations, thickening of the cardiac walls (cardiac hypertrophy), fingers or toes that are fused together (syndactyly), facial differences, immunological defects, neurodevelopmental delay and episodes of low levels of sugar in the blood (hypoglycemia) [3]. The Timothy Syndrome Alliance states that with more cases being identified, gastrointestinal defects have become a major concern.

These multisystem abnormalities are the result of a genetic modification that affects multiple organs and tissues of the body. TS is caused by changes (mutations) in the CACNA1C gene [3] that provides the instructions for the assembly of special proteins known as “calcium channels.” These channels are located on the external membrane of cells and allow calcium ions to flow into the cardiac cells. Since the calcium channels are present not only in the heart but in many other organs, multiple body systems are affected.

Available treatments include orally administrated medications (“antiarrhythmics”) and implantable devices like pacemakers (PM) or implantable cardioverter defibrillators (ICD) [5].

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  • long QT syndrome type 8 (LQT8)
  • TS
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Signs & Symptoms

Due to the multisystem nature of this disease, its clinical presentation is remarkably complex.

TS’s key cardiac feature is the documentation of a markedly prolonged QT interval on the electrocardiogram (EKG). The QT interval is the electrocardiographic parameter representing the time required for the heart to complete a cycle of contraction and relaxation. The prolongation of this interval predisposes the heart to develop sudden alterations in the cardiac rhythm (known as arrhythmias). These cardiac arrhythmias can be very rapid and can impair the heart’s ability to pump blood to the brain, ultimately resulting in a sudden loss of consciousness (syncope), cardiac arrest, and potentially sudden cardiac death. Anesthesia and hypoglycemia are well-recognized triggers for arrhythmias in patients with TS [6–8]. Furthermore, when the QT interval is exceptionally prolonged, as is the case in patients with TS, a slowing in the conduction of the electrical impulses from the atria to the ventricles can occur. This phenomenon is called “atrioventricular block” and can result in a severe reduction of the heart rate (bradycardia).

One of the most common and peculiar extra-cardiac signs of TS is the presence of syndactyly [2,9], a condition in which two or more digits are fused together. It can be bilateral and may involve both the hands and the feet. According to a recent research study [6], up to 20% of individuals with TS may not present with syndactyly. Therefore, genetic testing is crucial to establish the diagnosis of TS in these patients.
Some visible signs associated with TS are specific facial differences in about 50% of patients [3,6], including low-set ears, a lower nasal bridge, a small upper jaw, baldness at birth and small and widely spaced teeth with a predisposition to cavities.

Additional extra-cardiac symptoms are a predisposition to infections (30-40% of patients [3,6]) secondary to an immunological defect and occasional episodes of low blood sugar (hypoglycemia), that may lead to fainting and, if untreated, death. Children with TS may also present with neurodevelopmental delay in up to 60% of patients [3,6]. The neurological features include autism spectrum disorders, seizures and intellectual disability.

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In 2004 Splawski and colleagues [3] discovered that TS is caused by mutations in the CACNA1C gene, which is responsible for regulating the formation of a protein that moves calcium inside the cardiac cells (i.e. the “calcium channel”). The calcium channel is composed of a long sequence of smaller molecules, called “amino acids”. In the first cohort described by Splawski in 2004 [3], all patients had an identical mutation (G406R), which caused the substitution of the amino acid “glycine” (G) in position 406 with the amino acid “arginine” (R). When this gene is mutated, the closing of the channel is delayed causing too much calcium to enter the cells, which in turn determines the prolongation of the QT interval on the EKG.

TS is a dominant genetic disorder. This means that only a single copy of an abnormal gene is sufficient to cause the disease to be inherited. The abnormal gene can be inherited from either parent or it can be the result of a new mutation in the affected individual. The latter occurrence is called a “de novo” mutation and represents the most common cause of TS. However, in about 10% of patients [3,6], one parent can be a carrier of the mutation, but not in all cells of his/her body, a situation called “parental mosaicism”. This results in the possible transmission of the disease to children even though neither parent has the clinical manifestations of the disease.

From the original description in 2004, it was found that other mutations in the CACNA1C gene can cause TS. According to a recent research study, the G406R mutation is present in about 60% of patients with TS. Other mutations described in the medical literature as associated with a TS phenotype include the following: G402R [6], G402S [6], S405R [6], C1021R [6], I1166T [10], K1211E [6], A1473G [11] and G1911R [12].

In recent years, the features associated with cardiac calcium channel mutations have greatly expanded. Some CACNA1C mutations can cause LQTS without other cardiac or extra-cardiac manifestations (deemed “CACNA1C-related LQTS”). Some examples include: A28T[13], P381S[14], M456I[14], A582D[14], L762F[15], P857R[16], R858H[14], R860G[13], I1166V[13], I1475M[13], E1496K[13], and G1783C[14]. These do not properly correspond to the definition of Timothy syndrome. However, other mutations (e.g. R518C, R518H) [17] have been associated with cardiac malformations and hypertrophy and they are classified under the name “cardiac-only Timothy syndrome” (COTS).

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Affected populations

TS has been diagnosed in less than 100 children around the world. Because of the multisystem nature of this syndrome, very few children live to adulthood. Thanks to improved recognition of this syndrome and improved medical care, there are a number of TS individuals now in their twenties and early 30s.

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The occurrence of cardiac arrhythmias or the documentation of a prolonged QT interval on the EKG usually permits the establishment of diagnosis in the first days of life. In up to 25% of patients [6], TS may also be suspected before birth due to abnormal heart rate in the womb (“fetal bradycardia”) but occasionally the diagnosis is made later, during early infancy. Other distinctive features such as cardiac malformations or hypertrophy, syndactyly and typical facial abnormalities are suggestive of TS. Additional symptoms such as recurrent infections, episodes of paroxysmal hypoglycemia, autism spectrum disorders, seizures and intellectual disability may also contribute to the diagnosis. Once clinical suspicion has been raised, diagnosis can be confirmed through genetic testing for mutations in the CACNA1C gene. Once diagnosis is established, evaluations including cardiology, neurology, skeletal and metabolic consultations should be done to evaluate the extent of the disease and to undertake the appropriate therapeutic measures.

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Standard Therapies


Cardiac symptoms of TS can be managed through a variety of treatments, including drug therapies. An integrated approach based on different therapeutic options has made it possible to slightly improve the prognosis of patients with TS compared to the first reports in 2004 and 2005. However, the disease still has an extremely high mortality rate and few affected individuals reach adulthood.

One common treatment is orally administrated drugs called “beta blockers” (BBs), which block the effect of epinephrine thus preventing sudden increases in heart rate. BBs are currently used with success to treat other forms of genetic LQTS. However, recent data from international registries [6,7] reported that 70% of patients were treated with BBs at the time of the cardiac arrest, suggesting that the effect of BBs in preventing sudden cardiac death is not satisfactory in this particular form of LQTS.

The most effective treatment is the use of an implantable cardioverter defibrillator (ICD). This device is able to recognize when the heart experiences a life-threatening arrhythmia and delivers an electric shock that restores a normal heart rate. Considering the high mortality rate of the disease, the prophylactic implant of an ICD is often recommended in patients with TS [5]. Pacemakers (PM) are also frequently used in infants to prevent the excessive slowing of the heart rate (bradycardia) secondary to the aforementioned atrioventricular blocks [5].

Other treatments address the management of the non-cardiac manifestations of the disease. Respiratory infections are common in TS and should be treated with antibiotics that do not cause QT prolongation. Surgical correction of syndactyly is possible, but it should involve careful monitoring of the heart for any complications, since the use of anesthetic drugs is a common trigger for cardiac arrhythmias in patients with TS [8].

Monitoring of individuals with TS should include frequent blood sugar measurement and cardiac assessments. All drugs or dietary practices that may contribute to lengthening the QT interval or lowering blood sugar should be avoided.

A medical team may be necessary to address the other non-cardiac issues that affect the quality of life of these children. Intestinal issues are of major concern along with bouts of hypoglycaemia. The neurodevelopmental delays observed in many TS individuals may require special educational needs and therapeutic interventions.

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Clinical Trials and Studies

Other pharmacological approaches aimed to shorten the QT interval and to reduce the risk of arrhythmias and cardiac arrest are currently being studied.

Since the disease is caused by an increase in calcium channel function, calcium channel blockers (i.e. verapamil) appear to be a seemingly intuitive solution. However, to date, this class of drugs has not been found to be effective in reducing the risk of life-threatening arrhythmias [25–27].

Another strategy is based on the inhibition of the sodium channel by class Ib antiarrhythmic drugs (i.e. mexiletine). This approach has been shown to be effective in long QT syndrome type 3[28] and one study reported its efficacy in reducing the duration of the QT interval in a patient with TS [27]. Also ranolazine, an antianginal drug with a multiple effect on different cardiac ion channels, has been hypothesized to be effective thanks to its action on the sodium current [29,30].

Finally, promising results, although only experimental, have been obtained for roscovitine (Seliciclib). Roscovitine is an anti-cancer drug developed in the late 90’s [31] which inhibits some cellular molecules called “cyclin-dependent kinases” (CDKs), that are important in regulating the cell cycle. Experimental studies[32–34] conducted in cells derived from patients with TS have shown that roscovitine is able to correct some cellular abnormalities that are at the basis of the genesis of arrhythmias in TS, but further studies are needed to confirm these preliminary observations.

Since the non-cardiac and non-neural issues involve non-excitable cells, research is needed to understand the calcium signalling that may be abnormal; this abnormal signalling is likely the cause of these multisystem concerns.

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov

Some current clinical trials also are posted on the following page on the NORD website:

For information about clinical trials sponsored by private sources, contact:

For information about clinical trials conducted in Europe, contact:

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1. Reichenbach H, Meister EM, Theile H. [The heart-hand syndrome. A new variant of disorders of heart conduction and syndactylia including osseous changes in hands and feet]. Kinderarztl Prax [Internet]. 1992;60:54–56. Available from: https://www.ncbi.nlm.nih.gov/pubmed/1318983

2. Marks ML, Whisler SL, Clericuzio C, Keating M. A new form of long QT syndrome associated with syndactyly. J Am Coll Cardiol. 1995;25:59–64.

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12. Hennessey JA, Boczek NJ, Jiang YH, Miller JD, Patrick W, Pfeiffer R, Sutphin BS, Tester DJ, Barajas-Martinez H, Ackerman MJ, Antzelevitch C, Kanter R, Pitt GS. A CACNA1C variant associated with reduced voltage-dependent inactivation, increased CaV1.2 channel window current, and arrhythmogenesis. PLoS One [Internet]. 2014;9:e106982. Available from: https://www.ncbi.nlm.nih.gov/pubmed/25184293

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14. Fukuyama M, Wang Q, Kato K, Ohno S, Ding WG, Toyoda F, Itoh H, Kimura H, Makiyama T, Ito M, Matsuura H, Horie M. Long QT syndrome type 8: novel CACNA1C mutations causing QT prolongation and variant phenotypes. Europace [Internet]. 2014;16:1828–1837. Available from: https://www.ncbi.nlm.nih.gov/pubmed/24728418

15. Landstrom AP, Boczek NJ, Ye D, Miyake CY, De la Uz CM, Allen HD, Ackerman MJ, Kim JJ. Novel long QT syndrome-associated missense mutation, L762F, in CACNA1C-encoded L-type calcium channel imparts a slower inactivation tau and increased sustained and window current. Int J Cardiol [Internet]. 2016;220:290–298. Available from: http://dx.doi.org/10.1016/j.ijcard.2016.06.081

16. Boczek NJ, Best JM, Tester DJ, Giudicessi JR, Middha S, Evans JM, Kamp TJ, Ackerman MJ. Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome. Circ Cardiovasc Genet [Internet]. 2013;6:279–289. Available from: https://www.ncbi.nlm.nih.gov/pubmed/23677916

17. Boczek NJ, Ye D, Jin F, Tester DJ, Huseby A, Bos JM, Johnson AJ, Kanter R, Ackerman MJ. Identification and Functional Characterization of a Novel CACNA1C-Mediated Cardiac Disorder Characterized by Prolonged QT Intervals With Hypertrophic Cardiomyopathy, Congenital Heart Defects, and Sudden Cardiac Death. Circ Arrhythm Electrophysiol [Internet]. 2015;8:1122–1132. Available from: https://www.ncbi.nlm.nih.gov/pubmed/26253506

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19. Mazzanti A, Guz D, Trancuccio A, Pagan E, Kukavica D, Chargeishvili T, Olivetti N, Biernacka EK, Sacilotto L, Sarquella-Brugada G, Campuzano O, Nof E, Anastasakis A, Sansone VA, Jimenez-Jaimez J, Cruz F, Sánchez-Quiñones J, Hernandez-Afonso J, Fuentes ME, Średniawa B, Garoufi A, Andršová I, Izquierdo M, Marinov R, Danon A, Expósito-García V, Garcia-Fernandez A, Muñoz-Esparza C, Ortíz M, Zienciuk-Krajka A, Tavazzani E, Monteforte N, Bloise R, Marino M, Memmi M, Napolitano C, Zorio E, Monserrat L, Bagnardi V, Priori SG. Natural History and Risk Stratification in Andersen-Tawil Syndrome Type 1. J Am Coll Cardiol. 2020;75.

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21. Neyroud N, Tesson F, Denjoy I, Leibovici M, Donger C, Barhanin J, Fauré S, Gary F, Coumel P, Petit C, Schwartz K, Guicheney P. A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nat Genet. 1997;15:186–189.

22. Schulze-Bahr E, Wang Q, Wedekind H, Haverkamp W, Chen Q, Sun Y, Rubie C, Hördt M, Towbin JA, Borggrefe M, Assmann G, Qu X, Somberg JC, Breithardt G, Oberti C, Funke H. KCNE1 mutations cause Jervell and Lange-Nielsen syndrome. Nat. Genet. 1997;17:267–268.

23. Forsyth R, Gunay-Aygun M. Bardet-Biedl Syndrome Overview. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. . Seattle (WA): 1993.

24. Nowaczyk MJM, Wassif CA. Smith-Lemli-Opitz Syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. . Seattle (WA): 1993.

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27. Gao Y, Xue X, Hu D, Liu W, Yuan Y, Sun H, Li L, Timothy KW, Zhang L, Li C, Yan GX. Inhibition of late sodium current by mexiletine: a novel pharmotherapeutical approach in timothy syndrome. Circ Arrhythm Electrophysiol [Internet]. 2013;6:614–622. Available from: https://www.ncbi.nlm.nih.gov/pubmed/23580742

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29. Sicouri S, Timothy KW, Zygmunt AC, Glass A, Goodrow RJ, Belardinelli L, Antzelevitch C. Cellular basis for the electrocardiographic and arrhythmic manifestations of Timothy syndrome: effects of ranolazine. Hear Rhythm. 2007;4:638–647.

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33. Song L, Awari DW, Han EY, Uche-Anya E, Park S-HE, Yabe YA, Chung WK, Yazawa M. Dual optical recordings for action potentials and calcium handling in induced pluripotent stem cell models of cardiac arrhythmias using genetically encoded fluorescent indicators. Stem Cells Transl Med. 2015;4:468–475.

34. Song L, Park S-HE, Isseroff Y, Morikawa K, Yazawa M. Inhibition of CDK5 Alleviates the Cardiac Phenotypes in Timothy Syndrome. Stem cell reports. 2017;9:50–57.

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