The Definition of Sarcomeric and Non-Sarcomeric Gene Mutations in Hypertrophic Cardiomyopathy Patients: A Multicenter Diagnostic Study Across Türkiye.

BACKGROUND: Hypertrophic cardiomyopathy is a common genetic heart disease and up to 40%-60% of patients have mutations in cardiac sarcomere protein genes. This genetic diagnosis study aimed to detect pathogenic or likely pathogenic sarcomeric and non-sarcomeric gene mutations and to confirm a final molecular diagnosis in patients diagnosed with hypertrophic cardiomyopathy. METHODS: A total of 392 patients with hypertrophic cardiomyopathy were included in this nationwide multicenter study conducted at 23 centers across Türkiye. All samples were analyzed with a 17-gene hypertrophic cardiomyopathy panel using next-generation sequencing technology. The gene panel includes ACTC1, DES, FLNC, GLA, LAMP2, MYBPC3, MYH7, MYL2, MYL3, PLN, PRKAG2, PTPN11, TNNC1, TNNI3, TNNT2, TPM1, and TTR genes. RESULTS: The next-generation sequencing panel identified positive genetic variants (variants of unknown significance, likely pathogenic or pathogenic) in 12 genes for 121 of 392 samples, including sarcomeric gene mutations in 30.4% (119/392) of samples tested, galactosidase alpha variants in 0.5% (2/392) of samples and TTR variant in 0.025% (1/392). The likely pathogenic or pathogenic variants identified in 69 (57.0%) of 121 positive samples yielded a confirmed molecular diagnosis. The diagnostic yield was 17.1% (15.8% for hypertrophic cardiomyopathy variants) for hypertrophic cardiomyopathy and hypertrophic cardiomyopathy phenocopies and 0.5% for Fabry disease. CONCLUSIONS: Our study showed that the distribution of genetic mutations, the prevalence of Fabry disease, and TTR amyloidosis in the Turkish population diagnosed with hypertrophic cardiomyopathy were similar to the other populations, but the percentage of sarcomeric gene mutations was slightly lower.

Study of Transesophageal Echocardiography in Young Patients with Cryptogenic Stroke: Prevalence of Patent Foramen Ovale and Interpretation of the RoPE Score.

OBJECTIVE: Cryptogenic stroke (CS) is considered to be the most common stroke subtype in young patients. The Risk of Paradoxical Embolism (RoPE) score is a tool that stratifies patients with CS according to the probability of patent foramen ovale (PFO). The aim of this retrospective study is to determine the prevalence of PFO in young patients with transesophageal echocardi- ography (TEE) and to evaluate the role of RoPE score in PFO-related strokes. METHODS: The medical records of patients with acute arterial ischemic stroke, who underwent TEE between 2016 and 2020, were reviewed. Patients aged 18-55 years were included in the study. Presence of PFO, PFO characteristics, presence of atrial septal aneurysm (ASA) were detected by examining the image records of the patients from the archive system. RoPE score was calculated for all patients as determined in the literature. RESULTS: Totally, 50 CS patients were included in the study (mean age: 39.6±9.4 years). PFO was detected in 19 (38%) patients and it was the most common cardiac abnormality in CS patients. ASA was detected in 7 (14%) patients. The mean RoPE score in patients with PFO was higher than patients without PFO, although it did not reach statistical significance (7.68±1.1 versus 6.77±1.9 P = .07). Eighteen of 19 patients with PFO had a RoPE score ≥7. CONCLUSION: In our study, PFO prevalence in the CS patients was higher than normal popula- tion. In patients with cryptogenic stroke, the RoPE score can help determine the probability of PFO related stroke and which patients should undergo TEE.

Increased microvolt T-wave alternans in children and adolescents with Eisenmenger syndrome.

OBJECTIVE: To determine the values of microvolt T-wave alternans (MTWA) in children and adolescents with Eisenmenger syndrome (ES) and controls. METHODS: Thirteen were included in the study. After analyzing the 24-h ECG recordings, MTWA was considered using three leads (V5, V1, and aVF). Right heart catheterization and 6-minute walk test (6-MWD) were applied to the patients and pro-brain natriuretic peptide levels were assessed; echocardiographic parameters were obtained from both the groups and the results were compared. RESULTS: The MTWA value in lead V5 was 81.08±10.73 µV in the patient group (63.50±18.78 µV in the control group), in lead V1 was 75.00±16.86 µV (73.94±16.77 µV in the control group), and in lead aVF was 73.77±17.81 µV (72.61±16.21 µV in the control group). Comparison of MTWA values between patients and controls revealed that only lead V5 values were statistically different in the ES group. The 6-MWD scores significantly correlated with lead V5. Right atrial volume and right ventricular fractional area change were significantly correlated with lead V1. The Tei index was significantly correlated with lead aVF. CONCLUSION: The MTWA lead V5 value was significantly higher in children with ES than in controls and was also correlated with decreased exercise tolerance.

Adaptation of heart to training: a comparative study using echocardiography & impedance cardiography in male & female athletes.

BACKGROUND & OBJECTIVES: Intensive regular physical exercise training is associated with a physiological changes in left ventricular (LV) morphology and functions. This cardiac remodeling observed in the athletes is associated with the specific haemodynamic requirements of the exercise undertaken. The main objective of this study is to evaluate the effect of endurance training on cardiac morphology, systolic and diastolic LV functions and haemodynamic parameters both in male and female athletes. METHODS: Seventy nine healthy athletes (age 20.0 ± 2.6 yr; 49% male) and 82 healthy sedentary adolescent (age 20.8 ± 2.2 yr, 49% male) volunteered to participate in this study. All subjects underwent transthoracic echocardiography and impedance cardiography. RESULTS: Both female and male athletes had greater LV end-diastolic cavity sizes, LV mass and stroke volume (SV) values when compared with controls. Also, in male athletes, LV mass index was higher than in female athletes. While male athletes had lower resting heart rate compared to female athletes, they had higher mean arterial blood pressure. In male athletes, basal septal and mid septal strain values were higher compared to controls. There were no significant differences in strain and peak systolic strain rate values between female athletes and controls. In male athletes, there was a weak positive correlation between SV and LV mass, basal lateral and septal strain values. In female athletes, only a weak positive correlation was found between SV and basal septal strain values. INTERPRETATION & CONCLUSIONS: Endurance-trained male and female athletes had higher LV mass, LV cavity dimensions and SV compared to sedentary controls. Although there was no difference in diastolic cardiac functions between athletes and controls, local enhanced systolic function was found with increase of SV. Both morphologic and haemodynamic differences were more evident in male athletes.