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Inherited Cardiac Diseases

There are over 250,000 people with inherited cardiac diseases in the UK.  The most feared complication of many of these diseases is sudden death in the first three decades of life.  Early detection and risk stratification has the potential to prevent catastrophies and identify other family members who might be affected.  I specialise in inherited cardiac diseases and have a particular interest in cardiomyopathy, ethnic differences in cardiovascular disease, ion channel disorders and Sudden Arrhytthmic Death Syndrome (SADS).  Our tertiary consultant-led inherited cardiac disease clinic (ICDC) at St George's Hospital evaluates patients with familial cardiac conditions. The clinic is nationally reputed and supports the S.E London area and receives referrals throughout UK. 


A family member has a cardiomyopathy.  Does this mean it will be passed on to me?

Cardiomyopathies are genetic diseases which are usually inherited as an autosomal dominant trait. This means, if a first degree relative is affected, then there is a 50% chance of you being affected. 

Hypertrophic cardiomyopathy (HCM)

If a parent has an abnormal gene then each child has a 50% chance of inheriting HCM, Treatment is aimed at preventing complications and improving symptoms. Treatment can be obtained through lifestyle modification advice, drugs, specialised pacemakers or in some cases, surgery.

Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)

The child of a parent with ARVC has a 50% chance of inheriting the condition. ARVC can be treated by modifying your lifestyle. Drug treatment may be used to control the irregular heart rhythms and a defibrillator may be fitted for those deemed to be at high risk from sudden death. 

Dilated cardiomyopathy (DCM)

DCM is inherited in at least 25% of cases and leads to heart failure in the majority of cases. All first-degree relatives of patients diagnosed with DCM of unknown cause (idiopathic) should be screened to exclude the condition. 

Long QT syndrome (LQTS)

Long QT syndrome (LQTS) is an ion channelopathy which affects the electrical functioning of the heart without affecting the heart’s structure. It affects about 1 in 2,000 people. Gene testing has a very important role in LQTS, and will confirm 70% of cases.  Beta-blockers provide effective therapy, particularly in LQTS Type 1 cases. 

Brugada Syndrome

Brugada Syndrome is a genetic condition which causes sudden death at rest, particularly during sleep. It is commonly due to mutations in the sodium ion channel gene SCN5A.  It is standard practice for high risk carriers to have an implanted cardioverter defibrillator (ICD) fitted.

Catecholaminergic polymorphic ventricular tachycardia (CPVT)

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare condition that has been associated with two genes that make proteins found inside the cell.  The diagnosis is usually made after the recording of arrhythmias that are characteristic of CPVT, while the person is doing exercise. 

Marfans Syndrome

One in 5000 people in the United Kingdom have Marfan’s syndrome .  It is a hereditary condition in 75% of cases and caused by a new gene mutation in the remaining 25% of cases. Children of a person with Marfan’s syndrome have a 50% chance of developing the condition.  

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