Cardiogenetics (Inherited Heart Conditions)

Cardiogenetics is the service for heart conditions that run in families. Cardiologists, clinical geneticists and genetic counsellors work together to diagnose the affected person, identify the responsible gene variant where possible, and then offer targeted screening to relatives.

A genetic result can confirm a diagnosis, guide treatment in some conditions and spare relatives who do not carry the variant from years of check-ups. Its limits should be understood beforehand: a test is often negative even in clearly inherited disease, and variants of uncertain significance are common and must not be used to make decisions.

Bedingungen, die dieser Service betreut

• Hypertrophic cardiomyopathy
• Dilated and arrhythmogenic cardiomyopathy
• Long QT syndrome, Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia
• Familial hypercholesterolaemia
• Marfan, Loeys-Dietz and other inherited aortic diseases
• Hereditary transthyretin amyloidosis
• Unexplained sudden cardiac death or cardiac arrest in a relative under about 40
• Some congenital heart defects associated with genetic syndromes

Tests, die Ihnen möglicherweise angeboten werden

• Three-generation family history: A drawn pedigree recording heart disease, sudden deaths, drownings, epilepsy-like episodes and cot deaths.
• ECG, echocardiography and cardiac MRI: Establish the clinical diagnosis (the phenotype), which must come before a gene test.
• Exercise test, Holter and drug provocation tests: For example an ajmaline challenge for suspected Brugada syndrome, under monitored conditions.
• Gene panel testing: Blood or saliva sample analysed for the genes relevant to the suspected condition. Results take 4 to 8 weeks.
• Cascade testing: Once a disease-causing variant is found, relatives can have a single-variant test.
• Review of post-mortem findings: Specialist interpretation of an autopsy and stored tissue after a sudden death in the family.

Behandlungen verfügbar

• Genetic counselling: Before and after testing: what the result can and cannot tell you, and implications for insurance, employment and children.
• Surveillance plans for relatives: Periodic ECG and echo for those who carry a variant or when no variant is identified.
• Lifestyle and drug advice: Lists of medicines to avoid in long QT and Brugada syndromes, fever management, and sport recommendations.
• Medicines: Beta blockers for long QT and CPVT, lipid-lowering therapy for familial hypercholesterolaemia, and blood pressure drugs to slow aortic enlargement.
• ICD decisions: Individual risk assessment for preventing sudden death.
• Reproductive options: Discussion of prenatal and pre-implantation genetic testing for couples who wish it.

Wann Sie eine Fachmeinung einholen sollten

• A close relative died suddenly and unexpectedly at a young age
• You have been diagnosed with a cardiomyopathy, channelopathy or aortic aneurysm without an obvious cause
• A relative has a confirmed genetic heart condition
• Your LDL cholesterol is above about 5 mmol/L (190 mg/dL) with a family history of early heart disease
• You fainted during exercise, swimming or on sudden loud noise

Reisen nach Türkiye für diese Pflege

A single visit of 2 to 4 days can cover clinical assessment, imaging, counselling and sampling. The gene result follows weeks later and can be explained by video consultation. Relatives then need screening where they live, and lifelong surveillance is local. Check how your own country handles genetic results in insurance before testing.

Senden Sie Ihre Berichte, Scans und eine kurze Geschichte und eine Clinic-Y Koordinator Antworten innerhalb von 24 Stunden mit geeigneten Teams und schriftlich, All-inclusive Vorschläge nebeneinander. Die Überprüfung Ihres Falls ist kostenlos.

Häufig gestellte Fragen