A MYH7 variant in a five-generation-family with hypertrophic cardiomyopathy.

Background: Hypertrophic cardiomyopathy (HCM) is a genetic condition with a prevalence of 1:500-1:3 000. Variants in genes encoding sarcomeric proteins are mainly responsible for the disease. MYH7 gene encoding a myosin heavy chain beta, together with MYPBC3 gene are the two most commonly affected genes. The clinical presentation of this disease varies widely between individuals. This study aims to report a variant of MYH7 responsible for HCM in a five-generation family with a history of cardiac problems. Methods: The diagnosis was established according to the European Society of Cardiology HCM criteria based on two-dimensional Doppler echocardiography or cardiovascular magnetic resonance. Genetic analysis was performed using next-generation-sequencing and Sanger method. Results: The medical history of the presented family began with a prenatal diagnosis of HCM in the first child of a family with previously healthy parents. Five generations of the family had a long history of sudden cardiac death and cardiac problems. A NM_000257.4:c.2342T>A (p.Leu781Gln) variant was detected in the MYH7 gene. It was heterozygous in the proband and in all affected individuals in a large family. The variant was present in 10 affected members of the family, and was absent in 7 members. The clinical course of the disease was severe in several members of the family: three family members died of sudden cardiac death, one patient required heart transplantation, three underwent septal myectomy, and three required implantable cardioverter defibrillator (ICD) implantation. Conclusion: Herein, we report a MYH7 variant responsible for HCM. Familial HCM is inherited primarily in autosomal dominant mode, which is in accordance with our study. However, the presented family showed a broad clinical spectrum of HCM. Out of 10 family members with positive genetic testing 8 had severe presentation of the disease and 2 had a mild phenotype. This suggests that the severity of the disease may depend on other factors, most likely genetic.

Diastolic function evaluation in children with ventricular arrhythmia.

Premature ventricular contractions (PVC) are frequently seen in children. We evaluated left ventricular diastolic function in PVC children with normal left ventricular systolic function to detect whether diastolic function disturbances affect physical performance. The study group consisted of 36 PVC children, and the control group comprised 33 healthy volunteers. Echocardiographic diastolic function parameters such as left atrial volume index (LAVI), left atrial strains (AC-R, AC-CT, AC-CD), E wave, E deceleration time (Edt), E/E' ratio, and isovolumic relaxation time (IVRT) were measured. In the cardiopulmonary exercise test (CPET), oxygen uptake (VO2 max) was registered. Evaluation of diastolic function parameters revealed statically significant differences between the patients and controls regarding Edt (176.58 ± 54.8 ms vs. 136.94 ± 27.8 ms, p < 0.01), E/E' (12.6 ± 3.0 vs. 6.7 ± 1.0, p < 0.01), and IVRT (96.6 ± 19.09 ms. vs. 72.86 ± 13.67 ms, p < 0.01). Left atrial function was impaired in the study group compared to controls: LAVI (25.3 ± 8.2 ml/m2 vs. 19.2 ± 7.5 ml/m2, p < 0.01), AC-CT (34.8 ± 8.6% vs. 44.8 ± 11.8%, p < 0.01), and AC-R-(6.0 ± 4.9% vs. -11.5 ± 3.5%, p < 0.01), respectively. VO2 max in the study group reached 33.1 ± 6.2 ml/min/kg. A statistically significant, moderate, negative correlation between VO2 max and E/E' (r = -0.33, p = 0.02) was found. Left ventricular diastolic function is impaired and deteriorates with the arrhythmia burden increase in PVC children. Ventricular arrhythmia in young individuals may be related to the filling pressure elevation and drive to exercise capacity deterioration.

Success rate and safety of catheter ablation in preexcitation syndrome: A comparison between adult and pediatric patients.

BACKGROUND: In contrast to adults, in whom cardiac rhythm disorders are mainly conditioned by coronary artery disease, in children, arrhythmias are most often associated with inherited heart disorders. Catheter ablation (CA) has an important role in the management of cardiac arrhythmias, in adults and children. The aim of the study was to assess and compare the efficacy and safety of CA in children and adults with preexcitation syndrome. METHODS: The study population comprised 43 adults and 43 children diagnosed with a Wolff-Parkinson-White syndrome (WPW). The mean age of the study population was 41 ± 15 years for adults and 14 ± 2.5 years for children. In all patients, an electrophysiological study and CA were performed. Analysis with respect to the procedure duration, fluoroscopy exposure time, location of accessory pathways (AP), immediate success rate and complications were performed. RESULTS: Electrophysiological study revealed the most frequent presence of left-sided AP (56% in children and 70% in adults). The mean procedure duration was 96 ± 36 min and 106 ± 51 min in children and adults, respectively (p = NS). The mean fluoroscopy duration was 8.5 ± 4.3 min and 5.9 ± 5.8 min in children and adults, respectively p < 0.05. The CA procedure was successful in 40 out of 43 (93%) adults and in 36 out of 43 (83.7%) children (p = NS). In 2 (4%) children minor complications occurred. CONCLUSIONS: Ablation in children and adults are equally effective with respect to short-term clinical observation.