Indication
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Pre-symptomatic, Therapeutic management
The first identified CACNA1C-related disorder, referred to as Timothy syndrome, consists of the combination of prolonged QT interval, autism, and cardiovascular malformation with syndactyly of the fingers and toes. Infrequent findings also include developmental and speech delay, seizures, and recurrent infections. With increased availability of molecular genetic testing, a wider spectrum of pathogenic variants and clinical findings associated with CACNA1C-related disorders has been recognized. Because CACNA1C is associated with calcium channel function, all individuals with a pathogenic variant in this gene are at risk for cardiac arrhythmia of a specific type. The clinical manifestations of a CACNA1C-related disorder include three phenotypes: Timothy syndrome with or without syndactyly. QT prolongation (QTc >480 ms) and arrhythmias in the absence of other syndromic features. Short QT syndrome (QTc <350 ms) or Brugada syndrome with short QT interval. These three phenotypes can be separated into two broad categories on the basis of the functional consequences of the pathogenic variants in CACNA1C: QT prolongation with or without a Timothy syndrome-associated phenotype associated with pathogenic variants inducing a gain of function at the cellular level (i.e., increased calcium current). Short QT interval with or without Brugada syndrome EKG pattern associated with pathogenic variants causing loss of function (i.e., reduced calcium current).
- Atrioventricular block
- Autism
- Bronchitis
- Sudden death
- Patent ductus arteriosus
- Patent foramen ovale
- Cardiomegaly
- Ventricular septal defect
- Hypocalcemia
- Hypoglycemia
- Hypothermia
- Hypothyroidism
- Immunodeficiency
- Hypotonia
- Pneumonia
- Seizure
- Syncope
- Syndactyly
- Tetralogy of Fallot
- Ventricular fibrillation
- Ventricular tachycardia
- Sudden cardiac death
- Sinus bradycardia
- Prolonged QT interval
- Round face
- Recurrent infections
- Microdontia
- Bradycardia
- Global developmental delay
- Single umbilical artery
- Prolonged QTc interval
- Depressed nasal bridge
- Cutaneous syndactyly
- Thin upper lip vermilion
- Pulmonary arterial hypertension
- Intellectual disability
- Aborted sudden cardiac death
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Autosomal dominant inheritance
The Invitae Hypertrophic Cardiomyopathy Panel includes genes that are definitively associated with hypertrophic cardiomyopathy (HCM) or with other inherited cardiomyopathy disorders that may present with clinical features similar to HCM. HCM is defined by the presence of unexplained left ventricular hypertrophy and can cause chest pain, heart failure, or cardiac arrest.
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