Risk of Cardiomyopathy in Younger Persons With a Family History of Death from Cardiomyopathy

Abstract

Background— Recommendations for presymptomatic screening of relatives of cardiomyopathy patients are based on findings from tertiary centers. Cardiomyopathy inheritance patterns are fairly well understood, but how cardiomyopathy in younger persons (<50 years) aggregates in families at the population level is unclear. In a nationwide cohort, we examined the risk of cardiomyopathy by family history of premature death (<60 years) from cardiomyopathy. Methods and Results— By linking Danish national register data, we constructed a cohort of 3.9 million persons born from 1950 to 2008. We ascertained family history of premature (<60 years) death from cardiomyopathy or other conditions, and cohort members were followed from 1977 to 2008 for cardiomyopathy diagnosed at <50 years. We identified 3890 cardiomyopathies in 89 million person-years of follow-up. Using Poisson regression, we estimated incidence rate ratios for cardiomyopathy by family history of premature death. Premature cardiomyopathy deaths in first- and second-degree relatives were associated with 29- and 6-fold increases in the rate of cardiomyopathy, respectively. If the first-degree relative died aged <35 years, the rate of cardiomyopathy increased 100-fold; given ≥2 premature deaths in first-degree relatives, the rate increased more than 400-fold. In contrast, a family history of premature death from other cardiac or noncardiac conditions increased the rate of cardiomyopathy 3-fold at most. Conclusions— A family history of premature cardiomyopathy death was associated with an increase in risk of cardiomyopathy ranging from 6- to 400-fold, depending on age, kinship, gender and number of affected family members. Our general population-based results support recommendations for presymptomatic screening of relatives of cardiomyopathy patients.

A Critical Need for Clinical Context in the Genomic Era

“…For some forms of cardiomyopathy, there is evidence of significant dependence on unmeasured environmental exposures and dynamism in the underlying phenotypes. 12 Ranthe et al 11 also emphasize that their results reinforce calls for family-targeted screening in the aftermath of sudden cardiac arrest.…”

Diagnosis, Prognosis, Management, Treatment, Research and Advances in Canine Dilated Cardiomyopathy

“…Screening for disease prior to the onset of symptoms can catch diseases at an early stage, but may not be useful or affordable for an entire population. Screening asymptomatic individuals can be recommended when there is an additional reason to suspect that an individual may develop disease, such as family/breed history of the disease or a genetic test result indicating susceptibility to disease [95,96]. A positive genetic test result often does not fully predict disease development, but merely indicates that the individual has a genetic pre-disposition to developing the disease [139].…”

“…A positive genetic test result often does not fully predict disease development, but merely indicates that the individual has a genetic pre-disposition to developing the disease [139]. Thus, a positive genetic test result does not always result in direct medical intervention, yet it can lead to increased awareness of the disease and enrolment of the individual on a health monitoring programme [92,96]. Not only can the dog be an excellent model, but lessons can also be learned from other species with DCM [61].…”

“…Despite this, individuals identified as having a high genetic risk of developing a disease are currently able to reduce their risk of developing disease. Options available include making lifestyle changes to reduce other risk factors, increased disease surveillance, and prophylactic medicine and surgery [4,7,10,92,93,95,96]. Increased disease surveillance can allow for early disease detection and therefore early treatment, which is associated with improved prognosis [87,92].…”

Symptoms, diagnoses, and sporting consequences among athletes referred to a Danish sports cardiology clinic

“…Whether athletes in general have an increased risk of cardiac arrest and thereby whether athletes should be screened for unknown cardiac disease has been highly debated (Holst et al., ; Harmon et al., ). The Danish Society of Cardiology (DCS) has decided not to recommend screening of athletes but to offer all first‐degree relatives to a SCA or SCD family member under the age of 50 years examination for inheritable heart disease, as family history is a much more significant risk factor of cardiac arrest (Ranthe et al., , ). Moreover as it has been shown that many athletes suffering SCD had cardiac symptoms, that were ignored prior to the event, it seemed prudent to offer athletes with cardiac symptoms examination.…”