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Abstract Background: Familial hypertrophic cardiomyopathy (HCM) is an autosomal dominant inherited disorder; mutations in at least 20 genes have been associated. Brugada syndrome (BrS) is an autosomal dominant inherited disorder caused by mutations mainly in the SCN5A gene. A new clinical entity that consists of HCM, typical electrical instability of BrS and sudden death (SD), is described. Methods and Results: The family was constituted by 7 members, 4 of who presented clinical features of HCM and electrical instability of BrS. The clinical presentation of proband was ventricular fibrillation. All members were clinically evaluated by physical examination, 12-lead electrocardiography, 2-dimensional echocardiography, stress test, electrocardiogram Holter, flecainide test, and electrophysiological study.

An integrated linkage analysis and next generation sequencing (NGS) approach was used to identify the causative mutation. Linkage with the α-tropomyosin ( TPM1) gene on chromosome 15q22 was identified.

The NGS study identified a missense mutation within the TPM1 gene (c.574G>A; p.E192K), exactly located in a binding domain with polycystin-2 protein. No other pathogenic mutations were identified. Conclusions: This is the first report of an association between HCM and BrS, and the first to use a combined approach of linkage and NGS to identify a causative mutation in SD.

The present study expands the clinical spectrum of disorders associated with the TPM1 gene and may be useful to report novel mechanisms of electrical instability in HCM and BrS. ( Circ J 2016; 80: 938–949).

Familial hypertrophic cardiomyopathy (HCM) is the most common genetic myocardial disease, with a prevalence of 1:500. It is characterized by left ventricular hypertrophy (LVH) in the absence of other loading conditions.

Genetic studies have shown that HCM is caused by >450 different mutations in at least 20 genes encoding sarcomere or sarcomere-related proteins. Patients with echocardiographically documented hypertrophy showed a significantly increased risk of developing malignant arrhythmias, which accounts for a substantial component of the mortality associated with cardiac hypertrophy. Mechanisms underlying these arrhythmias are multifactorial, but they stem, at least in part, from altered electrical currents due to a prolongation of ventricular action potentials. The resulting delay in the recovery of excitability, a consistent feature of ventricular hypertrophy, predisposes to early and late afterdepolarizations. Hypertrophy is also associated with myocardial fibrosis, altered electrotonic coupling between cells, slowed conduction, and dispersion of refractoriness, all of which predispose to re-entrant mechanisms of arrhythmia. Together, these “electrical remodelling” responses underlie the propensity to arrhythmia, syncope, and sudden death (SD). The Brugada syndrome (BrS) is a cardiac disorder showing variable electrocardiographic features characteristic of right bundle-branch block, persistent ST-segment elevation in the precordial leads (V1–V3) at rest, and sudden cardiac death.

Inherited as autosomal dominant with incomplete penetrance disorder, symptoms tend to manifest at an average age of 40 years. BrS is responsible for 20% of SD in people under 50 years of age with apparently structurally normal hearts. It has a significant male preponderance, but its true prevalence (1–5 in 10,000 worldwide) is difficult to quantify, not only because of its transient signature electrocardiographic signs, but also for the failure to correctly identify cases of suspected sudden arrhythmic death and the lack of subsequent family screening. The genetic abnormalities that cause BrS have been linked to mutations in the ion channel gene, SCN5A, which encodes for the α-subunit of the cardiac sodium channel. Many others genes have been subsequently identified, explaining, however, only 35% of reported cases, and indicating a marked genetic heterogeneity in the pathogenesis of the BrS. As several genes are potentially implicated in the clinical phenotype described above, the combined use of linkage analysis and a large multi-gene disease-targeted panel based on next generation sequencing (NGS) technologies could aid in the identification of causative mutations.

Taking this approach, we obtained the molecular diagnosis of a new clinical entity characterized by clinical features of HCM and BrS and caused by a mutation in the α-tropomyosin ( TPM1) gene. Methods Patients The family was constituted by 7 members, 4 of whom presented with clinical features of HCM and BrS (). The clinical presentation of the proband was ventricular fibrillation (VF). All family members were clinically evaluated by a review of medical history, a complete physical examination, a 12-lead ECG, a 2-dimensional echocardiographic examination, stress test and an ECG Holter. HCM was diagnosed by unexplained thickening of the left ventricular myocardium, according to international guidelines. All individuals underwent a flecainide test (2 mg/kg IV administered as a bolus over 10 min) and an invasive electrophysiological study (EFS), according to standard methods. Pedigree structure of the family.

( A) Family members are identified by generations and numbers. Square, male family member; circle, female member; symbols with a slash, deceased members; closed symbols, affected members; open symbols, unaffected members; red arrow, proband. ( B) Basal ECG of the proband (II-4). ( C) Transthoracic echocardiography of the proband. ( D) ECG after flecainide administration in the proband (II-4). Informed written consent was obtained from each family member who agreed to participate to the study.

Target Region Panel Design We designed 2 custom panels whose content was selected to focus on functional portions of the human genome with known involvement in sudden cardiac death. In the first design, we attempted to target all exonic regions (with 100 base pair exon padding) of 61 genes by an in-solution target enrichment (Ion TargetSeq Custom Panel; Life Technologies). The design comprised 1,299 exons, targeting 418.6 kb ().

In the second design, we utilized ultra-high multiplex PCR (Ion AmpliSeq Custom Panel, Life Technologies) to analyze those regions not covered in the first panel. The design comprises 334 regions, targeting 55.18 kb. Combining these 2 panels, we managed to achieve 98% region design coverage. Gene name Chr. Chr., chromosome.

Samples Preparation DNA was isolated from peripheral blood using a Flexigene Kit (Qiagen). Genomic DNA samples were quality-checked both on a DNA NanoDrop 1000, and with the Qubit2.0 fluorometer using the Quant-IT dsDNA BR Assay (Invitrogen).

For TargetSeq library preparation, 1 µg gDNA was used as input for fragmentation according to the manufacturer’s instructions. DNA fragmentation was assessed by running the samples on an Agilent High Sensitivity DNA chip on a Bioanalyzer 2100 (Agilent).

Each sample was barcoded by ligation of IonXpress adapters (Life Technologies) according to protocol. Libraries were size-selected with an E-Gel system (Invitrogen) to an average length of ~330 bp, purified and amplified. Before hybridization with target probes, 250 ng of DNA from 2 samples were combined. Hybridization, post-hybridization washes and elution of the enriched samples was performed according to the manufacturer’s instructions.

The enriched library was diluted, and clonally amplified by emulsion polymerase chain reaction; beads with amplicons were enriched, loaded onto an Ion-318 chip (Life Technologies) and sequenced on the Ion-PGM (Life Technologies). Average base pair coverage was >500× for each sample. For the Ampliseq Library, 20 ng of gDNA were used to generate the amplicons libraries. Libraries were indexed using the IonXpress Barcode Adapter Kit (Life Technologies) and quantitated using the High Sensitivity DNA Chip on the Agilent BioAnalyzer (Agilent). Appropriate dilutions were performed based on amplicon concentration at the 130–210 bp range.

Twenty pmol/L of individual indexed amplicon libraries were pooled for emulsion PCR and all 4 samples were sequenced on the Ion Torrent PGM platform using the Ion-316v2 chip (Life Technologies). Average base pair coverage was >400× for each sample. To analyze the data, 2 strategies were proposed: the use of proprietary bioinformatic tools and the use of a custom pipeline. Sanger Sequencing TPM1 mutation was confirmed by direct sequencing, using primers designed by Primer Express software. Analysis was performed according to the ABI BigDye Terminator Cycle Sequencing protocol using a 3130 x L automated sequencer (Applied Biosystems). Results Scene of the Crime: Clinical and Instrumental Characterization of the Family The proband (II-4), a 22-year-old woman, was admitted to our hospital after successful resuscitation from VF cardiac arrest (). Results of examination and laboratory tests were normal.

However, the 12-lead-ECG was highly suggestive for LVH; PQ and QT corrected (QTc) intervals were within normal limits (180 ms and 431 ms, respectively) (). Zig Powermaster Manual more. Transthoracic echocardiography revealed severe left ventricular thickening of the interventricular septum (23 mm) without left ventricular outflow tract obstruction and with a normal systolic left ventricular function (). The patient underwent an EFS that revealed inducibility of polymorphic ventricular tachycardia (VT) with degeneration into VF (data not shown).

Interestingly, intravenous flecainide caused ST-segment elevation in the inferior leads and coved-type ST-segment elevation in the right precordial leads, suggesting a link with a typical electrical instability of BrS (). According to the guidelines, the patient underwent the implantation of an automatic cardioverter defibrillator (AICD) as secondary prevention. The instrumental screening of the entire family displayed a severe left ventricular thickening of the interventricular septum in the mother (; ) and 2 brothers (; and ) of the proband. Very intriguingly, all these subjects presented a positive response to flecainide test, and the EFS revealed inducibility of polymorphic VT with degeneration into VF (). The flecainide tests in unaffected subjects were negative, as expected (data not shown).

Objective: To evaluate rehabilitation results of electrostimulation especially on joint effusion, swelling and pain recovery after anterior cruciate ligament reconstruction. Design: A randomized controlled trial; the assessor was not blinded to the group allocation. Setting: Orthopaedics-traumatology and physical medicine-rehabilitation departments. Subjects: Twenty-nine consecutive patients underwent anterior cruciate ligament reconstruction. Interventions: Both groups began the voluntary exercise protocol one day post-surgery. The intervention group ( n = 15) also received 30 sessions electrostimulation treatment protocol started four days after the operation.

Main measures: Numerical bulge-dancing patella signs for effusion assessment; differences in circumferences of the mid-centre of the patella between operated and non-operated knees for swelling assessment. Aself-report of average daily resting pain assessed by visual analogue scale; Intenational Knee Documentation Committee scoring system and Tegner Activity Scale for subjective response assessment. Results: Twenty-six subjects including 13 patients from the intervention group completed the study. Significantly less effusion and swelling were determined in the intervention group after seven days (1.8 ± 1.3 versus 2.4 ± 1.7 for effusion and 1.7 ± 1.2 versus 3.4 ± 1.5 for swelling) to 12 weeks (0.2 ± 0.7 versus 0.6 ± 0.8 for effusion and 0.2 ± 0.8 versus 0.8 ± 0.9 for swelling) postoperative ( P. Nicholas, SJ, Tyler, TF, McHugh, MP, Gleim, GW. The effect on leg strength of tourniquet use during anterior cruciate ligament reconstruction: a prospective randomized study.

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