Key result
Gender, age at onset, vegetarian diet, and sarcomere mutations are linked to DCM expression.
Case-Control (n=212)
The study highlights the role of specific epidemiological factors and genetic heterogeneity, deviating from simple autosomal dominant inheritance, in Indian patients with dilated cardiomyopathy.
May inform DCM family screening in Indian cohorts considering diet and onset; leaves open confirmation of non-autosomal dominant inheritance.
BACKGROUND: Dilated cardiomyopathy (DCM) still remains to be a poorly understood and less analyzed group of cardiac-muscle disorders when compared to hypertrophic cardiomyopathy (HCM). Also, the vast clinical heterogeneity among the patients has rendered the small and isolated kindred studies less informative on the genetics and epidemiology of DCM. AIM OF THE STUDY: The study aimed at understanding the epidemiology and genetics of DCMs in the Indian context. MATERIALS AND METHODS/STATISTICAL ANALYSIS: One hundred seven DCM patients and 105 healthy individuals were included in the study for epidemiological and genetic risk factor identification and to fit the possible mode of inheritance. Single's ascertainment methodology for segregation analysis and Penrose frequency estimates were followed to evaluate for the role of specific epidemiological factors in the disease etiology. Chi-square analysis was carried out to interpret the results statistically. RESULTS AND CONCLUSION: Our study suggests that epidemiological factors like gender, age at onset and vegetarian diet in conjunction with sarcomere gene mutations may play a role in the disease expression. Similarly, segregation analysis for the possible mode of inheritance showed a deviation from the autosomal dominant mode of inheritance, strengthening the underlying genetic heterogeneity of DCM.
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Nallari et al. (2009) conducted a case-control in Dilated cardiomyopathy (n=212). Epidemiological factors and sarcomere gene mutations vs. Healthy individuals was evaluated on Disease expression and mode of inheritance. Epidemiological factors including gender, age at onset, and vegetarian diet, in conjunction with sarcomere gene mutations, may play a role in the disease expression of dilated cardiomyopathy.
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