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.

Transcatheter tricuspid valve-in-valve implantation for degenerative surgical bio-prosthesis using SAPIEN 3: A case series.

We evaluated early outcomes of transcatheter valve-in-valve (ViV) implantation in patients with degenerated bio-prosthesis in tricuspid position. Total of 5 patients were included in our case series. Baseline native tricuspid valve etiology were highly varied ranging from chest wall trauma, Ebstein anomaly, rheumatic heart disease, infective endocarditis and complex congenital heart disease. These differences also made patient comorbidities highly varied. Procedure details were also varied due to different clinical and technical challenges. All cases underwent successful Tricuspid VIV implantation with satisfactory hemodynamics results. All patients experienced improved clinical symptoms at follow up.

Type A aortic dissection presenting as acute ischemic stroke caution for thrombolytic therapy: a case report and literatures review.

The authors reported a patient who had type A aortic dissection presenting with sudden onset of right hemiplegia and depressed consciousness. CT scan of brain showed acute cerebral infarction of left corona radiata, posterior limb of left internal capsule combined with left hemispheric brain swelling. An old cerebral infarction at the posterior limb of right internal capsule was also noted Clinical signs of aortic regurgitation and difference in blood pressures and amplitude of pulses on both arms were associated. Initial chest x-ray revealed widening of the mediastinum. CT scan of chest revealed dissecting aorta extending from the ascending aorta to the mid of the descending aorta. Surgical correction of the aorta was refused and the patient was treated medically with partial neurological deficit. No additional cardiovascular events occurred.