Genomic analyses implicate noncoding de novo variants in congenital heart disease. View Article Richter F, Morton SU, Kim SW, Kitaygorodsky A, Wasson LK, Chen KM, Zhou J, Qi H, Patel N, DePalma SR, Parfenov M, Homsy J, Gorham JM, Manheimer KB, Velinder M, Farrell A, Marth G, Schadt EE, Kaltman JR, Newburger JW, Giardini A, Goldmuntz E, Brueckner M, Kim R, Porter GA Jr, Bernstein D, Chung WK, Srivastava D, Tristani-Firouzi M, Troyanskaya OG, Dickel DE, Shen Y, Seidman JG, Seidman CE, Gelb BD. Nat Genet. 2020 Aug;52(8):769-777. doi: 10.1038/s41588-020-0652-z. Epub 2020 Jun 29. PMID: 32601476 Take Home Points: A genetic etiology is identified for one-third of patients with congenital heart disease (CHD), with 8% of cases attributable to coding de novo variants (DNVs). In this National Heart, Lung, and Blood Institute (NHLBI)-funded Pediatric Cardiac Genomics Consortium (PCGC) study of >13,000 patients with CHD utilizing whole-exome sequencing (WES) and chromosome microarrays rare transmitted variants and DNVs in 8% of patients with sporadic CHD. CHD probands and their parents when compared to unaffected trios demonstrated a higher burden of DNVs in individuals with CHD. DNV burden was also observed in RNA-binding-protein regulatory sites. Comment from Dr. Shaji Menon (Salt Lake City, Utah), section editor of Pediatric and Fetal Cardiology Journal Watch: In this landmark study National Heart, Lung, and Blood Institute (NHLBI)-funded Pediatric Cardiac Genomics Consortium (PCGC) recruited >13,000 patients and utilized whole-exome sequencing (WES) and chromosome microarrays to study CHD genetic architecture. The analyses identified damaging rare transmitted variants and DNVs in 8% of patients with sporadic CHD (including 28% of syndromic and 3% of isolated CHD). Independent analyses of enhancers showed an excess of DNVs in associated genes (27 genes versus 3.7 expected, P = 1 × 10−5). CHD DNVs altered transcription levels in 5 of 31 enhancers assayed. The study also demonstrated DNV burden in RNA-binding-protein regulatory sites (OR = 1.13, 95% CI 1.1–1.2, P = 8.8 × 10−5).
June
Genomic analyses implicate noncoding de novo variants in congenital heart disease
Genomic analyses implicate noncoding de novo variants in congenital heart disease. View Article Richter F, Morton SU, Kim SW, Kitaygorodsky A, Wasson LK, Chen KM, Zhou J, Qi H, Patel N, DePalma SR, Parfenov M, Homsy J, Gorham JM, Manheimer KB, Velinder M, Farrell A,...
The Genetic Epidemiology of Pediatric Pulmonary Arterial Hypertension
The Genetic Epidemiology of Pediatric Pulmonary Arterial Hypertension. View Article Haarman MG, Kerstjens-Frederikse WS, Vissia-Kazemier TR, Breeman KTN, Timens W, Vos YJ, Roofthooft MTR, Hillege HL, Berger RMF. J Pediatr. 2020 Jun 2:S0022-3476(20)30689-2. doi:...
Multi-System Inflammatory Syndrome in Children in Association with COVID-19
Multi-System Inflammatory Syndrome in Children in Association with COVID-19. View Article Simpson JM, Newburger JW. Circulation. 2020 Jun 11. doi: 10.1161/CIRCULATIONAHA.120.048726. Online ahead of print. PMID: 32525700 Take Home Points: Multisystem inflammation in...
Acute heart failure in multisystem inflammatory syndrome in children (MIS-C) in the context of global SARS-CoV-2 pandemic
Acute heart failure in multisystem inflammatory syndrome in children (MIS-C) in the context of global SARS-CoV-2 pandemic. View Article Belhadjer Z, Méot M, Bajolle F, Khraiche D, Legendre A, Abakka S, Auriau J, Grimaud M, Oualha M, Beghetti M, Wacker J, Ovaert C,...
Implantable cardioverter-defibrillator therapy to reduce sudden cardiac death in adults with congenital heart disease: A registry study
Implantable cardioverter-defibrillator therapy to reduce sudden cardiac death in adults with congenital heart disease: A registry study View Article Slater TA, Cupido B, Parry H, Drozd M, Blackburn ME, Hares D, Pepper CB, Birkitt L, Cullington D, Witte KK, Oliver J,...
Echocardiographic predictors of recoarctation following surgical repair – a Swedish national study
Echocardiographic predictors of recoarctation following surgical repair - a Swedish national study View Article Weismann CG, Grell BS, Odermarsky M, Mellander M, Liuba P. Ann Thorac Surg. 2020 Jun 30:S0003-4975(20)31030-4. doi: 10.1016/j.athoracsur.2020.05.062. Online...
Changes in REVEAL risk score in patients with pulmonary arterial hypertension treated with macitentan in clinical practice: results from the PRACMA study
Changes in REVEAL risk score in patients with pulmonary arterial hypertension treated with macitentan in clinical practice: results from the PRACMA study View Article Escribano-Subias P, López R, Almenar L, Lázaro M, Forn I, Torrent A, Blanco I, Barberà JA; PRACMA...
Near-infrared spectroscopy for prediction of extubation success after neonatal cardiac surgery.
Gradidge EA, Grimaldi LM, Cashen K, Gowda KMN, Piggott KD, Wilhelm M, Costello JM, Mastropietro CW. Cardiol Young. 2019 Jun;29(6):787-792. doi: 10.1017/S1047951119000829. Epub 2019 Jun 6. PMID: 1169104 Similar articles Take Home Points: Extubation failure...
Feasibility of Non-invasive Fetal Electrocardiographic Interval Measurement in the Outpatient Clinical Setting.
Doshi AN, Mass P, Cleary KR, Moak JP, Funamoto K, Kimura Y, Khandoker AH, Krishnan A. Pediatr Cardiol. 2019 Jun 6. doi: 10.1007/s00246-019-02128-w. [Epub ahead of print] PMID: 31172229 Similar articles Select item 31172686 Take Home Points: Fetal EKG scanning...
Mechanism and Risk Factors for Death in Adults With Tetralogy of Fallot
Mechanism and Risk Factors for Death in Adults With Tetralogy of Fallot. Egbe AC, Kothapalli S, Borlaug BA, Ammash NM, Najam M, Bajwa N, Tarek K, Matthew J, Connolly HM. Am J Cardiol. 2019 Jun 7. pii: S0002-9149(19)30627-7. doi: 10.1016/j.amjcard.2019.05.048. [Epub...
A Low Residual Pressure Gradient Yields Excellent Long-Term Outcome After Percutaneous Pulmonary Valve Implantation
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X chromosome gene dosage as a determinant of congenital malformations and of age-related comorbidity risk in patients with Turner syndrome, from childhood to early adulthood
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Non-vitamin K antagonist oral anticoagulants in adults with a Fontan circulation: are they safe?
Non-vitamin K antagonist oral anticoagulants in adults with a Fontan circulation: are they safe? Yang H, Veldtman GR, Bouma BJ, Budts W, Niwa K, Meijboom F, Scognamiglio G, Egbe AC, Schwerzmann M, Broberg C, Morissens M, Buber J, Tsai S, Polyzois I, Post MC, Greutmann...
Relation Between New York Heart Association Functional Class and Objective Measures of Cardiopulmonary Exercise in Adults With Congenital Heart Disease
Relation Between New York Heart Association Functional Class and Objective Measures of Cardiopulmonary Exercise in Adults With Congenital Heart Disease. Das BB, Young ML, Niu J, Mendoza LE, Chan KC, Roth T. Am J Cardiol. 2019 Jun 1;123(11):1868-1873. doi:...
Factors associated with exercise capacity in patients with a systemic right ventricle
Gavotto A, Abassi H, Rola M, Serrand C, Picot MC, Iriart X, Thambo JB, Iserin L, Ladouceur M, Bredy C, Amedro P. Int J Cardiol. 2019 Jun 13. pii: S0167-5273(19)31187-8. doi: 10.1016/j.ijcard.2019.06.030. [Epub ahead of print] PMID: 31256996 Similar articles Select...