Inherited Cardiac Disease

2020 ◽  
Keyword(s):  
Cardiovascular System ◽  
Cardiac Disease ◽  
Genetic Disorders ◽  
Molecular Genetic ◽  
Clinical Genetics ◽  
Cardiac Diseases ◽  
Inherited Disease ◽  
National Guidelines ◽  
Inherited Diseases ◽  
Inherited Cardiac Disease

Every year, thousands of people die or suffer chronic disability as the result of inherited diseases of the cardiovascular system. In many cases, diagnosis of inherited disease is delayed or missed owing to a lack of awareness, and an even greater number of relatives are exposed to unnecessary risk. This new edition of Inherited Cardiac Disease provides a comprehensive summary of the aetiology, presentation, and management of genetic disorders of the cardiovascular system. Fully updated to reflect the advances in molecular genetic technologies and the publication of national guidelines for the management of families with inherited cardiac diseases, it retains the first edition’s broad scope and applicability to all members of the multidisciplinary team, from specialists in cardiology and clinical genetics, to genetic counsellors, paediatricians, nurse specialists, and GPs who may come into contact with families presenting with inherited cardiac diseases. After chapters on the general principles of cardiovascular genetics, genetic testing and counselling, individual disorders are then examined in detail, each account featuring a clinical summary, diagnostic tests and special investigations, and treatments relevant to each inherited cardiac disease. Written in the succinct bullet-point style of the Oxford Specialist Handbooks, this new edition of Inherited Cardiac Disease delivers key information in an accessible manner, and is an invaluable guide to anyone who works with patients who are affected by inherited diseases of the cardiovascular system in their practice.

Inherited cardiac disease

Medicine ◽  
2010 ◽  
Vol 38 (9) ◽  
pp. 496-501 ◽  
Author(s):  
Arash Yavari ◽  
Houman Ashrafian
Keyword(s):  
Cardiac Disease ◽  
Inherited Cardiac Disease

scholarly journals Diagnostic yield in victims of sudden cardiac death and their relatives

EP Europace ◽  
2020 ◽  
Vol 22 (6) ◽  
pp. 964-971 ◽  
Author(s):  
Benjamin Lautrup Hansen ◽  
Elisabeth Mütze Jacobsen ◽  
Amalie Kjerrumgaard ◽  
Jacob Tfelt-Hansen ◽  
Bo Gregers Winkel ◽  
...  
Keyword(s):  
Sudden Cardiac Death ◽  
Cardiac Disease ◽  
Cardiac Death ◽  
Cardiovascular Events ◽  
Diagnostic Yield ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Cardiac Events ◽  
Common Diagnosis ◽  
Inherited Cardiac Disease ◽  
Low Rate

Abstract Aims International guidelines recommend cardiogenetic screening in families with sudden cardiac death (SCD) if the suspected cause is an inherited cardiac disease. The aim was to assess the diagnostic yield of inherited cardiac diseases in consecutively referred SCD families. Methods and results In this single-centre retrospective study, we consecutively included families referred to our tertiary unit between 2005 and 2018 for screening due to SCD. Following evaluation of premortem medical records and postmortem findings for the proband, the families underwent a guideline-based screening protocol. Relatives were followed and cardiovascular events registered. In total, 304 families with 695 relatives were included. In probands, mean age at death was 39 years (75% males) and in relatives mean age at screening was 35 years (47% males). The proband-diagnosis was established through autopsy findings (n = 89), genetic analyses (n = 7), or based on premortem findings (n = 21). In the remaining 187 families with borderline/no diagnosis in the proband, screening of relatives yielded a diagnosis in 26 additional families. In total, an inherited cardiac disease was identified in 143 out of 304 families (47%). In relatives, 73 (11%) were diagnosed. Arrhythmogenic right ventricular cardiomyopathy (n = 16) was the most common diagnosis. During follow-up (mean 5.5 years), a low rate of serious cardiac events was observed (no SCD events). Conclusion Forty-seven percent of SCD families were diagnosed. Eleven percent of the screened relatives received a definite diagnosis and were offered treatment according to guidelines. A low rate of serious cardiovascular events was observed among SCD relatives.

Yield and clinical significance of genetic screening in elite and amateur athletes

2020 ◽  
pp. 204748732093426 ◽  
Author(s):  
Giuseppe Limongelli ◽  
Marcella Nunziato ◽  
Valeria D'Argenio ◽  
Maria V Esposito ◽  
Emanuele Monda ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Clinical Evaluation ◽  
Cardiac Disease ◽  
Genetic Diagnosis ◽  
P Value ◽  
Inherited Disease ◽  
Clinical Markers ◽  
Amateur Athletes ◽  
Cardiovascular Evaluation ◽  
Inherited Cardiac Disease

Aims The purpose of this study was to assess the value of genetic testing in addition to a comprehensive clinical evaluation, as part of the diagnostic work-up of elite and/or amateur Italian athletes referred for suspicion of inherited cardiac disease, following a pre-participation screening programme. Methods Between January 2009–December 2018, of 5892 consecutive participants, 61 athletes were investigated: 30 elite and 31 amateur athletes. Elite and amateur athletes were selected, on the basis of clinical suspicion for inherited cardiac disease, from two experienced centres for a comprehensive cardiovascular evaluation. Furthermore, the elite and amateur athletes were investigated for variants at DNA level up to 138 genes suspected to bear predisposition for possible cardiac arrest or even sudden cardiac death. Results Of these 61 selected subjects, six (10%) had diagnosis made possible by a deeper clinical evaluation, while genetic testing allowed a definite diagnosis in eight (13%). The presence of >3 clinical markers (i.e. family history, electrocardiogram and/or echocardiographic abnormalities, exercise-induced ventricular arrhythmias) was associated with a higher probability of positive genetic diagnosis (75%), compared with the presence of two or one clinical markers (14.2%, 8.1%, respectively, p-value = 0.004). Conclusion A combined clinical and genetic evaluation, based on the subtle evidence of clinical markers for inherited disease, was able to identify an inherited cardiac disease in about one-quarter of the examined athletes.

scholarly journals Inherited cardiac disease

2012 ◽  
Vol 2 (1) ◽  
pp. 1
Author(s):  
Philippe Charron
Keyword(s):  
Cardiac Disease ◽  
Inherited Cardiac Disease

P5026Diagnostic yield in victims of sudden cardiac death and their relatives

2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
B L Hansen ◽  
E M Jacobsen ◽  
A Kjerrumgaard ◽  
B G Winkel ◽  
A C Christensen ◽  
...  
Keyword(s):  
Sudden Cardiac Death ◽  
Cardiac Disease ◽  
Cardiac Death ◽  
Diagnostic Yield ◽  
Family Screening ◽  
Screening Protocol ◽  
Borderline Diagnosis ◽  
Cardiac Diagnosis ◽  
Work Up ◽  
Inherited Cardiac Disease

Abstract Background International guidelines recommend screening of relatives in families with sudden cardiac death (SCD) if the cause of death is suspected to be an inheritable cardiac disease. The inheritable cardiac diagnosis may either have been known before the death, established at the autopsy or identified through screening of relatives. Purpose To provide an estimate of the diagnostic yield of inherited cardiac disease in SCD victims. Methods In an observational study, we included all families consecutively referred to our tertiary unit for inheritable cardiac diseases in the period from 2005 to 2018 due to SCD. Families with SCD victims under 1 year of age were excluded. In total, 697 relatives from 305 families were included and all relatives underwent a standard screening protocol, which included clinical and genetic work-up. Premortem medical records and postmortem findings on the SCD victim were ascertained whenever possible. Results A definite inheritable cardiac disease was identified in 113 out of 305 SCD families prior to family screening. The diagnosis was established through autopsy findings (n=89), genetic analysis (n=3) or was established prior to death (n=21). In the remaining 192 families with no or a borderline diagnosis only, screening of the relatives yielded a diagnosis in additional 28 families (15%). On a family-basis, a total of 141 out of 305 families (46%) were diagnosed. Seventy-seven (11%) out of the 697 screened relatives received either a phenotype-positive and/or genotype-positive inheritable diagnosis and 70 (10%) relatives received a borderline diagnosis. The most common diagnoses in the relatives were ARVC (n=17) followed by DCM (n=10) (see figure). Conclusion Almost half of SCD families were diagnosed with an inheritable cardiac disease of which one fifth of the families were diagnosed as a result of family screening. In 11% of the screened relatives a probable inheritable diagnosis was identified.

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