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The specifics of hypertrophic cardiomyopathy clinical presentation in patients with various mutations of sarcomere genes



Aim. The assessment of clinical presentation of HCMP in patients having mutations of the sarcomere protein genes. Material and methods. In 11 patients with hypertrophic cardiomyopathy (HCMP) we performed analysis of clinical and instrumental data and search for mutations of coding sequences of the genes ACTC1, MYBPC3, MYH7, MYL2, MYL3, TNNI3, TNNT2 и TPM1 via the sequencing method (next-generation sequencing (NGS). Results. The clinical presentation is described, of HCMP, and the analysis provided of the complications development during the period of follow-up of the patients with genes coding sarcomere proteins: Arg403Trp, Lys847del and Arg1712Trp (gene MYH7); Gln1233Term, Trp1214Arg, Arg502Gln, Arg326Gln and Ser236Gly (gene MYBPC3); Arg58Gln in gene MYL2. Conclusion. The revealed mutations in sarcomere genes in patients with HCMP are associated with early clinical onset of the disease, with worse family anamnesis and development of complications during follow-up.
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To design a new echocardiographic method of screening for hypertrophic cardiomyopathy applicable to children and adults, with a low false positive rate in athletes. Regional centre of cardiology, Oxford, UK. Forty one patients with hypertrophic cardiomyopathy, 66 first degree relatives from families with familial hypertrophic cardiomyopathy, 262 normal subjects, and 32 athletes were studied by long axis M mode and cross sectional echocardiography to determine the frequency distribution of diastolic and systolic ratios of cardiac wall thickness to cavity diameter. The best screening measure for hypertrophic cardiomyopathy is diastolic septum to cavity ratio, where a value of > 0.26 yielded a 100% disease detection rate at all ages with 0% false positives in the ordinary population. In comparison, the conventional screening tool of diastolic septum to posterior left ventricular wall ratio of > 1.5 yielded a detection rate of only 75%, for a false positive rate of 2%. In first degree relatives, a septum to cavity ratio > 0.26 yielded a 100% detection rate for an abnormal phenotype suggestive of carriage of a mutation for hypertrophic cardiomyopathy with no obvious false positives. Conventional screening showed a detection rate of only 44%. Athletes with physiological cardiac hypertrophy showed only a 6% false positive rate with diastolic septum to cavity ratio, and could be differentiated from subjects with hypertrophic cardiomyopathy by the absence of hypercontractility shown by a normal systolic left ventricular wall to cavity ratio (cut off < 0.63; 0% false positives). M mode echocardiographic measurement of the septum to cavity ratio provides a good screening test for hypertrophic cardiomyopathy at all ages. Combining this measurement with systolic left ventricular wall to cavity ratio improves the accuracy further.