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Timely detection and diagnosis of heart disorders can identify the best treatment options and improve prognosis.

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Genetic testing for cardiovascular indications

Testing for a wide range of cardiovascular diseases including congenital heart malformations. Timely detection and diagnosis of heart disorders can transform patient care and save lives.


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Symptoms relate to a genetic cause

Cardiovascular diseases include diseases of the heart and blood vessels, and they are the leading cause of death in the world, affecting millions of people worldwide. Many factors contribute to the risk of developing heart disease and so far many inherited cardiovascular diseases are known, including cardiac arrhythmias, cardiomyopathies, aortic aneurysms and others. Family history and genetics play a central role in these diseases. In addition, a patient’s genetic makeup can influence risk stratification, therapy selection and predicted response. The occurrence of all known modes of inheritance including complex- multigenic, reduced penetrance and highly variable clinical manifestations, even among individuals from a single family, complicate clinical diagnosis. Early diagnostic procedures, such as genetic testing, could be lifesaving.

Referral reasons

  • Individuals presenting with the most common symptoms of cardiovascular disease
  • Individuals with a positive family history of cardiovascular disease or sudden (unexplained) death
  • Individuals without a positive family history but with symptoms resembling the specific disease indication
  • Individuals with a negative, but suspected, family history, in order to perform genetic counseling

Diagnostic strategy

Confirmation of a clinical diagnosis through genetic testing allows for genetic counseling and may lead to immediate medical management. For each presented case and phenotype, a full medical report will be produced including a tailored diagnostic strategy, recommendations and a differential diagnosis, if applicable.

Clinical symptoms are not always the results of the same gene or genetic variation; any diagnosis is determined as a combination of the in-depth clinical information provided and the identified genetic variants. Specific gene panels, testing of single genes or even whole exome/genome sequencing can be applied.

What do we know about inherited cardiovascular diseases?

Enormous progress has been made in the identification of genes involved in the etiology of inherited cardiovascular diseases. As examples, gene mutations have been identified in approximately two-thirds of cases of hypertrophic cardiomyopathy, nearly the same number in cases of dilated cardiomyopathy, and most instances of familial cardiac arrhythmias.

Cardiomyopathies encompass a broad range of diseases which manifest as a primary cardiac disorder or as a cardiomyopathy secondary to systemic disease. Cardiomyopathy can be classified into five clinical phenotypes based upon morphological and functional characteristics: hypertrophic cardiomyopathy (HCM); dilated cardiomyopathy (DCM); restrictive cardiomyopathy; arrhythmogenic right ventricular (RV) cardiomyopathy; and unclassified cardiomyopathy, including left ventricular (LV) noncompaction. Hypertrophic cardiomyopathy has an estimated prevalence of approximately 1:500; dilated has a prevalence of 1:2,500; and arrhythmogenic right ventricular cardiomyopathy 1:1,000-5,000. Genetic testing in the diagnostic evaluation of patients with cardiomyopathy allows the identification of causal variants in more than 70% of children1. Cardiomyopathy can also be a presenting feature of other inherited disorders, such as Danon disease, Fabry disease, mitochondrial myopathy, or muscular dystrophy. Hereditary cardiomyopathy can be inherited in an autosomal dominant, autosomal recessive, X-linked, or mitochondrial manner. Rare variants in >30 genes, some also involved in muscular dystrophy or syndromic diseases, affect a diverse set of important myocardial proteins to produce a final cardiomyopathy phenotype.

Cardiac arrhythmias can lead to syncope, cardiac arrest and sudden death. They present in an isolated form or as part of another cardiac disease, for example cardiomyopathies. Some of the more frequent cardiac arrhythmias are long/short QT syndrome, Brugada syndrome, and atrial fibrillation. They are mainly inherited in an autosomal dominant manner, with de novo mutations occurring in some cases.

Aortic aneurysms and related diseases are characterized by the occurrence of dilatations, aneurysms and dissections occurring in the aorta or any of the main branches of the arterial tree. They are usually classified as syndromic and non-syndromic forms (familiar thoracic aneurysms and dissections, FTAAD). Among the syndromic forms are Marfan syndrome, Loeys-Dietz syndrome and Ehlers-Danlos syndrome2,3. They are mostly inherited as autosomal dominant disorders, with de novo mutations occurring in a proportion of the cases. Early diagnosis is relevant for timely treatment and prevention of fatal complications such as arterial dissection/rupture.

Congenital heart diseases (CHD) account for ~1% of all live births per year and the prevalence is increasing. About 25% of all newborns affected with congenital heart disease have a critical or life-threatening condition and they need immediate surgical or other treatment. Most CHD have a multifactorial etiology, which has complicated the identification of contributing genes4. Congenital heart malformations occur in several genetic syndromes reflecting the multiple genes involved in the development of the cardiovascular system (syndromic CHD). Noonan syndrome, Alagille syndrome and Holt-Oram syndrome are known examples.

Latest Scientific Articles on Cardiology

What can CENTOGENE do for you and your patients?

CENTOGENE has identified genetic variants associated with cardiology diseases in more than 450 different genes.

In CentoMD®, the world’s largest mutation database for rare diseases, 57% of which is made up of unpublished variants, we have carefully created and documented all variants that have clinical relevance for related symptoms supporting the precise diagnosis of a cardiovascular disease.


The four main categories of genetic cardiovascular disease with some regularly encountered examples

Downloads for Cardiovascular diseases

  • Cardiomyopathy panel – facts and figures

    Cardiomyopathy is defined as a disease of the heart muscle and has many different presentation.

    Download
  • LQTS panel - facts and figures

    Long QT syndrome (LQTS) is a cardiac electrophysiologic disorder, characterized by QT prolongation and T-wave abnormalities on the ECG and the ventricular tachycardia torsade de pointes (TdP).

    Download LQTS Fact Sheet
  • Request form - Cardiological and lung diseases

    Download

Find the right genetic tests for cardiologic diseases in our test catalogue

Single Gene Analysis

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  • Request form - Cardiological and lung diseases

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References:
  1. Kindel SJ, Miller EM, Gupta R, Cripe LH, Hinton RB, Spicer RL, Towbin JA, Ware SM. Pediatric Cardiomyopathy: Importance of Genetic and Metabolic Evaluation. Journal of Cardiac Failure. 2012 May;18(5): 396-403.
  2. Verstraeten A, Alaerts M, Van Laer L, Loeys, B. Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery. Human Mutation, 2016 Jun;37(6): 524-531.
  3. Bertoli-Avella AM et al. Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections. Home | Journal of the American College of Cardiology. 2015 Apr 7;65(13):1324-36.
  4. French VM et al. NPHP4 variants are associated with pleiotropic heart malformations. Circulation Research. 2012 Jun 8;110(12):1564-74 .

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