Genomic findings of hypertrophic and dilated cardiomyopathy characterized in a Thai clinical genetics service.

Hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) are the most common referrals in the Inherited Cardiovascular Condition (ICC) Genetics Service. Several issues must be discussed with patients and their families during the genetic consultation session, including the options for genetic testing and cardiovascular surveillance in family members. We developed an ICC registry and performed next-generation-based DNA sequencing for all patients affected by non-syndromic HCM and idiopathic DCM in our joint specialist genetics service. The target gene sequencing panel relied on the Human Phenotype Ontology with 237 genes for HCM (HP:0001639) and 142 genes for DCM (HP:0001644). All subjects were asked to contact their asymptomatic first-degree relatives for genetic counseling regarding their risks and to initiate cardiovascular surveillance and cascade genetic testing. The study was performed from January 1, 2014, to December 31, 2020, and a total of 62 subjects (31-HCM and 31-DCM) were enrolled. The molecular detection frequency was 48.39% (32.26% pathogenic/likely pathogenic, 16.13% variant of uncertain significance or VUS for HCM, and 25.81% (16.13% pathogenic/likely pathogenic, 9.68% VUS) for DCM. The most prevalent gene associated with HCM was MYBPC3. The others identified in this study included ACTN2, MYL2, MYH7, TNNI3, TPM1, and VCL. Among the DCM subjects, variants were detected in two cases with the TTN nonsense variants, while the others were missense and identified in MYH7, DRSP3, MYBPC3, and SCN5A. Following the echocardiogram surveillance and cascade genetic testing in the asymptomatic first-degree relatives, the detection rate of new cases was 8.82% and 6.25% in relatives of HCM and DCM subjects, respectively. Additionally, a new pre-symptomatic relative belonging to an HCM family was identified, although the genomic finding in the affected case was absent. Thus, ICC service is promising for the national healthcare system, aiming to prevent morbidity and mortality in asymptomatic family members.

Impact of self-monitoring of salt intake by salt meter in hypertensive patients: A randomized controlled trial (SMAL-SALT).

Salt intake over reference level would result in elevated blood pressure (BP) and long-term morbidity. Salt meter is a device used to detect sodium content in daily food. This study aimed to evaluate the efficacy of salt-meter addition to dietary education. The authors conducted a randomized-controlled trial in hypertensive patients with uncontrolled BP (systolic BP ≥140 mmHg or diastolic BP ≥90 mmHg). Patients were randomized to receive salt meter plus dietary education (group A) or education only (group B), and followed up for 8 weeks. The primary endpoint was change in 24-h urinary sodium excretion. Changes in BP, salt taste sensitivity, cardio-ankle vascular index (CAVI) were also analyzed. There were total number of 90 patients who had complete follow-up, 45 in each group. Mean age was 62.9 years and 53% were females. Mean baseline 24-h urine sodium was 151.6 mmol/24 h and mean SBP and DBP were 152.8 and 83.4 mmHg, respectively. Baseline characteristics were similar between two groups. At 8 weeks, mean change in urine sodium were -31.83 mmol/24 h and 0.36 mmol/24 h in group A and group B, respectively (p = .006). Mean decrease in BP were SBP, 14.44 versus 8.22 mmHg (p = .030), and DBP 5.53 versus 1.93 mmHg (p = .032). The salt sensitivity was improved more in group A. There was no different between change in CAVI. From this study, salt meter in conjunction with dietary education, for self-monitoring of salt intake is superior to education alone in hypertensive patients, and provided better blood pressure control. Salt meter should be considered in uncontrolled hypertensive patients.