Abstract

Around one-third of the common cardiovascular diseases in clinical practice are caused by genetic changes in a single or multiple genes spread across the human genome. Some of these are inherited in a typical Mendelian fashion, but majority occur at birth or manifest later in life without any clear family history. Most of these diseases manifest with life long morbidity at huge financial and manpower implications. Early mortality including sudden unexplained death is a known feature and leads to serious psychosocial problems in surviving family members.

Most common examples of inherited cardiovascular conditions (ICC) include congenital heart defects, cardiomyopathies, cardiac conduction and rhythm disorders, arterial and aortic dilatation and systemic diseases with a major cardiac involvement. Management usually requires intensive efforts of a number of medical/health specialists supported by highly skilled cardiac imaging and electrophysiology teams. Increasingly the role of clinical geneticist & genetic counselor has established in the multi-disciplinary care.  Interpretation of the family history, precise clinical genetic diagnosis, risk assessment, genetic counseling, interpretation and communication of genetic testing results and active role in cascade genetic testing with clinical cardiology surveillance are typical tasks of the genetic team.

With the advent & availability of next generation genome sequencing (NGS), the genetic management of ICC has vastly improved. In most cases, the use of multi-gene NGS panel has increased both diagnostic sensitivity & specificity. This is crucial for advising the unaffected ‘at-risk’ family member for personalized genetic risk and targeted discussion on personal and reproductive options. In addition, the clinical cardiology team can plan ahead for longer surveillance and timed intervention with drugs & devices prophylaxis. These measures are universally welcome by the individual and other close relatives.

Our experience of managing inherited cardiomyopathies in a busy tertiary hospital heart failure clinic is presented as the role model for NGS diagnosis in ICC multi-disciplinary care.