Inherited Cardiac Conditions

Overview

Inherited Cardiac Conditions (ICC) are a group of genetic disorders that affect the heart and major vessels, in particular the heart muscle (Cardiomyopathies), the heart rhythm (Inherited Arrhythmia Syndromes) and the aorta (Aortopathy). The Inherited Arrhythmia Syndromes, such as the Long QT syndrome, typically affect the electrical channels of the heart cells, causing electrical disturbances whilst Aortopathy and the associated connective tissue diseases are the conditions that affect the large arteries within the body. Additional, inherited conditions include Pulmonary Hypertension and lipid disorders such as Familial Hypercholesterolaemia (Lipidopathy).

The frequency of all ICC combined is approximately 1:100 worldwide. Tragically, these diseases in many cases lead to sudden death at a young age, which is their major complication, as they are often missed or not managed appropriately, especially when the individual was otherwise healthy and/ or asymptomatic and the family history was not mapped and managed.

Although the prediction of sudden death can be challenging, the current knowledge and experience on these diseases allow us to identify the majority of patients at risk and prevent further complications. Other complications, such as stroke, non-fatal arrhythmias and heart failure can also be evaluated and managed. Given that preventing these complications in the current era is possible as soon as the risk is identified, the process of risk stratification needs to be continuous and meticulously performed.

Diagnosis and risk assessment

Diagnosis of these conditions can be difficult for a variety of reasons, including the variability of the disease expression, their complex nature and the subtlety of some of their features.

The diagnosis for many of these diseases is based on a combination of markers from different diagnostic areas such as clinical and family history, genetic, electrocardiographic, cardiac imaging, histological and arrhythmic. The most common diagnostic tests include ECG, echocardiogram, exercise test, angiogram, MRI scan and genetic testing, where appropriate. Additionally, these tests are carefully interpreted for the risk assessment of these patients.

RB&HH Specialist Care can provide all diagnostic tests in a one-day assessment in order to ensure the best possible service for patients.

Management and treatment of inherited cardiac disease

The management of patients with ICC depends on their clinical expression and risk profile. It ranges from monitoring, to medical and interventional treatment. Certain details of the patients’ history and the results of the investigation can be helpful for the specialist Cardiologist to choose the appropriate patient management pathway. Fortunately, interventions and appropriate management have substantially improved the outcome for patients with ICC. Treatments include lifestyle changes, medication, implantable devices to correct arrhythmias, nonsurgical procedures and surgery

What makes us different?

Due to their nature, the clinical experience with these diseases is limited to a few centres around the world. Our multi-disciplinary team includes cardiologists, surgeons, genetic specialists, neurologists, imaging experts, psychologists, and specialist nurses. The team work closely together in joint clinical meetings and are supported by a cutting-edge research programme. Together they deliver an integrated day case diagnostic service to children, adults and families and a complete programme for the management of patients with ICC.

The team works closely with each patient and family to provide complete information on their condition and the available treatment options. An important aspect of the service is the screening of family members of all ages for these inherited conditions. Families can be seen together, easing the burden for the family in terms of travel and communication difficulties. This provides for a completely integrated care plan for both individuals and families affected by these conditions.

Consultants

This service is currently available at Royal Brompton & Harefield Hospitals – see key cardiologists for referrals within this service:

Cardiomyopathy

Dr Antonis Pantazis

Dr John Baksi

Dr Alexander Lyon

Dr Piers Daubney (pediatrics)

Aortopathy

Professor Christoph Nienaber

Dr Lorna Swan

Dr Nitha Naqvi (pediatrics)

Hypercholesterolaemia

Dr Mahmoud Barbir

Pulmonary Hypertension

Dr Laura Price

Channelopathy

Dr Jan Till

Dr Wajid Hussain

Dr James Ware