Genetic testing of one HCM patient allowed the omission of 2.45 to 5.15 future cardiologic examinations in relatives, and a combined echocardiographic score significantly differentiated genotype-positive from genotype-negative relatives (3.316 vs. -0.489, P=0.01).
Observational (n=151)
Yes
Does genetic testing in hypertrophic cardiomyopathy patients and their relatives improve clinical management and can echocardiographic criteria distinguish genotype-positive from genotype-negative relatives?
Genetic testing in HCM families significantly reduces the need for serial clinical screening in genotype-negative relatives, while standard echocardiographic parameters offer limited value in identifying mutation carriers prior to overt hypertrophy.
Absolute Event Rate: 3.316% vs -0.489%
p-value: p=0.01
Hypertrophic cardiomyopathy is the most common genetic cardiac disease with vast genetic heterogeneity. First-degree relatives of patients with HCM are at 50% risk of inheriting the disease-causing mutation. Genetic testing is helpful in identifying the relatives harbouring the mutations. When genetic testing is not available, relatives need to be examined regularly. We tested a cohort of 99 unrelated patients with HCM for mutations in MYH7, MYBPC3, TNNI3 and TNNT2 genes. In families with identified pathogenic mutation, we performed genetic and clinical examination in relatives to study the influence of genetic testing on the management of the relatives and to study the usefulness of echocardiographic criteria for distinguishing relatives with positive and negative genotype. We identified 38 genetic variants in 47 patients (47 %). Fifteen of these variants in 21 patients (21 %) were pathogenic mutations. We performed genetic testing in 52 relatives (18 of them (35 %) yielding positive results). Genetic testing of one HCM patient allowed us to omit 2.45-5.15 future cardiologic examinations of the relatives. None of the studied echocardiographic criteria were significantly different between the relatives with positive and negative genotypes, with the exception of a combined echocardiographic score (genotype positive vs. genotype negative, 3.316 vs. -0.489, P = 0.01). As a conclusion, our study of HCM patients and their relatives confirmed the role of genetic testing in the management of the relatives and found only limited benefit of the proposed echocardiographic parameters in identifying disease-causing mutation carriers.
Tomašov et al. (Wed,) conducted a observational in Hypertrophic Cardiomyopathy (n=151). Genetic testing vs. Genotype negative relatives was evaluated on Combined echocardiographic score (p=0.01). Genetic testing of one HCM patient allowed the omission of 2.45 to 5.15 future cardiologic examinations in relatives, and a combined echocardiographic score significantly differentiated genotype-positive from genotype-negative relatives (3.316 vs. -0.489, P=0.01).