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Investigating the Genetic Causes of Sudden Unexpected Death in Children Through Targeted Next-Generation Sequencing Analysis [Original Articles]
Conclusions— We have identified variants that may assist in the diagnosis of at least 6.3% of autopsy-negative child SUD cases and reduce risk of future SUD in surviving relatives. We recommend a cautious approach to variant interpretation. We also suggest inclusion of cardiomyopathy genes as well as other candidate SUD genes in molecular autopsy analyses. (Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - August 14, 2017 Category: Cardiology Authors: Dewar, L. J., Alcaide, M., Fornika, D., DAmato, L., Shafaatalab, S., Stevens, C. M., Balachandra, T., Phillips, S. M., Sanatani, S., Morin, R. D., Tibbits, G. F. Tags: Arrhythmias, Sudden Cardiac Death, Ion Channels/Membrane Transport, Genetics, Cardiomyopathy Original Articles Source Type: research

Correction [Correction]
(Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - August 11, 2017 Category: Cardiology Tags: Correction Source Type: research

Fabry Disease: A Rare Condition Emerging From the Darkness [Editorial]
(Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - August 10, 2017 Category: Cardiology Authors: Elliott, P. M. Tags: Genetics, Cardiomyopathy, Echocardiography, Magnetic Resonance Imaging (MRI) Editorial Source Type: research

Navigating Genetic and Phenotypic Uncertainty in Left Ventricular Noncompaction [Editorial]
(Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - August 10, 2017 Category: Cardiology Authors: Rhee, J.-W., Grove, M. E., Ashley, E. A. Tags: Genetics, Cardiomyopathy, Magnetic Resonance Imaging (MRI) Editorial Source Type: research

Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction [Original Articles]
Conclusions— LVHT and LVNC likely represent a continuum of genotypic disease with differences in severity and variable phenotype explained, in part, by the number of VOIs and whether mutations are present in sarcomeric or nonsarcomeric genes. Presence of VOIs is common in patients with LVHT. Our findings expand the current clinical and genetic diagnostic approaches for patients with LVHT and LVNC. (Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - August 10, 2017 Category: Cardiology Authors: Miszalski-Jamka, K., Jefferies, J. L., Mazur, W., Głowacki, J., Hu, J., Lazar, M., Gibbs, R. A., Liczko, J., Kłyś, J., Venner, E., Muzny, D. M., Rycaj, J., Białkowski, J., Kluczewska, E., Kalarus, Z., Jhangiani, S., Al-Khalidi, Tags: Genetics, Cardiomyopathy, Magnetic Resonance Imaging (MRI) Original Articles Source Type: research

Fabry Disease in Families With Hypertrophic Cardiomyopathy: Clinical Manifestations in the Classic and Later-Onset Phenotypes [Original Articles]
Conclusions— Men with classic or later-onset FD caused by GLA missense mutations developed prominent and similar cardiovascular disease at similar ages, despite markedly different α-GalA activities. (Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - August 10, 2017 Category: Cardiology Authors: Adalsteinsdottir, B., Palsson, R., Desnick, R. J., Gardarsdottir, M., Teekakirikul, P., Maron, M., Appelbaum, E., Neisius, U., Maron, B. J., Burke, M. A., Chen, B., Pagant, S., Madsen, C. V., Danielsen, R., Arngrimsson, R., Feldt-Rasmussen, U., Seidman, J Tags: Genetics, Cardiomyopathy, Hypertrophy Original Articles Source Type: research

Founder Mutations in Myosin-Binding Protein C: Maybe Not So Benign After All [Editorial]
(Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - August 9, 2017 Category: Cardiology Authors: Thompson, A. D., Day, S. M. Tags: Genetics, Cardiomyopathy, Hypertrophy Editorial Source Type: research

Dissecting the Genetic Basis of the ECG as a Means of Understanding Mechanisms of Arrhythmia [Editorial]
(Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - August 9, 2017 Category: Cardiology Authors: Tadros, R., Coronel, R., Bezzina, C. R. Tags: Arrhythmias, Electrophysiology, Atrial Fibrillation, Genetic, Association Studies, Genetics Editorial Source Type: research

Fifteen Genetic Loci Associated With the Electrocardiographic P Wave [Original Articles]
Conclusions— We have identified 6 novel genetic loci associated with P-wave duration and 6 novel loci associated with P-wave terminal force. Future studies of these loci may aid in identifying new targets for drugs that may modify atrial conduction or treat atrial arrhythmias. (Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - August 9, 2017 Category: Cardiology Authors: Christophersen, I. E., Magnani, J. W., Yin, X., Barnard, J., Weng, L.-C., Arking, D. E., Niemeijer, M. N., Lubitz, S. A., Avery, C. L., Duan, Q., Felix, S. B., Bis, J. C., Kerr, K. F., Isaacs, A., Muller-Nurasyid, M., Muller, C., North, K. E., Reiner, A. Tags: Arrhythmias, Genetic, Association Studies, Genetics, Electrocardiology (ECG) Original Articles Source Type: research

Clinical Characteristics and Long-Term Outcome of Hypertrophic Cardiomyopathy in Individuals With a MYBPC3 (Myosin-Binding Protein C) Founder Mutation [Original Articles]
Conclusions— Clinical phenotype and outcome of FG+ HCM was similar to G+ HCM but worse than G– HCM and FG+ HCM diagnosed in the context of family screening. These findings indicate the need for more intensive follow-up of FG+ and G+ HCM versus G– HCM and FG+ HCM in relatives. (Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - August 9, 2017 Category: Cardiology Authors: van Velzen, H. G., Schinkel, A. F. L., Oldenburg, R. A., van Slegtenhorst, M. A., Frohn-Mulder, I. M. E., van der Velden, J., Michels, M. Tags: Clinical Studies, Genetics, Cardiomyopathy, Hypertrophy, Mortality/Survival Original Articles Source Type: research

CKing Precision in the Interpretation of Diagnostic Biomarkers [Editorial]
(Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - August 8, 2017 Category: Cardiology Authors: de Denus, S., Tardif, J.-C., Dube, M.-P. Tags: Biomarkers, Genetics Editorial Source Type: research

LMNA Mutations Associated With Mild and Late-Onset Phenotype: The Case of the Dutch Founder Mutation p.(Arg331Gln) [Editorial]
(Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - August 8, 2017 Category: Cardiology Authors: Arbustini, E., Favalli, V., Narula, N. Tags: Genetics, Cardiomyopathy, Heart Failure Editorial Source Type: research

CKM Glu83Gly Is Associated With Blunted Creatine Kinase Variation, but Not With Myalgia [Original Articles]
Conclusions— This study highlights that a genetic factor known to be associated with constitutive CK levels is also associated with CK variability and inducibility. This is discussed in the context of evidence to suggest that the variant has an impact on inducibility of CK by trauma through a previously reported case of a homozygous carrier. However, the lack of association between the variant and myalgia suggests that it cannot reliably be used as a biomarker for muscle symptoms. (Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - August 8, 2017 Category: Cardiology Authors: Siddiqui, M. K., Veluchamy, A., Maroteau, C., Tavendale, R., Carr, F., Pearson, E., Colhoun, H., Morris, A. D., George, J., Doney, A., Pirmohamed, M., Alfirevic, A., Wadelius, M., Maitland van der Zee, A. H., Ridker, P. M., Chasman, D. I., Palmer, C. N. A Tags: Biomarkers, Cardiovascular Disease, Genetic, Association Studies Original Articles Source Type: research

Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing [Original Articles]
Conclusions— No proband had multiple LP/P variants in contrast to previous reports. However, multiple rare variants regardless of classification were seen in 4% and contributed to earlier disease onset and cardiac events. Our findings support a cumulative variant hypothesis in hypertrophic cardiomyopathy. (Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - August 8, 2017 Category: Cardiology Authors: Burns, C., Bagnall, R. D., Lam, L., Semsarian, C., Ingles, J. Tags: Genetics, Quality and Outcomes Original Articles Source Type: research

Lamin A/C-Related Cardiac Disease: Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation [Original Articles]
Conclusions— Clinical, morphological, functional, haplotype, and segregation data all indicate that LMNA p.(Arg331Gln) is a pathogenic founder mutation with a phenotype reminiscent of other LMNA mutations but with a more benign course. (Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - August 8, 2017 Category: Cardiology Authors: Hoorntje, E. T., Bollen, I. A., Barge-Schaapveld, D. Q., van Tienen, F. H., te Meerman, G. J., Jansweijer, J. A., van Essen, A. J., Volders, P. G., Constantinescu, A. A., van den Akker, P. C., van Spaendonck-Zwarts, K. Y., Oldenburg, R. A., Marcelis, C. L Tags: Etiology, Genetics, Cardiomyopathy, Mortality/Survival Original Articles Source Type: research