Chromosome 15 Chromosome 17 Chromosome 20
|
|
- Jared Johns
- 6 years ago
- Views:
Transcription
1 Chromosome 1 Chromosome 6 Chromosome 11 Chromosome 15 Chromosome 17 Chromosome 20 Supplementary figure 1. Regions of suggestive linkage in PVOD families 1,2 and 3. Six regions were identified with suggestive evidence of linkage (Max Lod-Score= 1.8) using non parametric linkage :1p36.3, 6q24, 11q22-23, 15q15-21, 17p13, 20q13.3.
2 A. PVOD1 PVOD2 1 # * 2 # * c c>a c.354_355del 1 # * 2 # * c g>a m1/+ m2/+ m/+ m/+ 1 # * 2 # * 3 m1 m2 # * 3 # * m (HTZ) m (HMZ) Dx 31 Dx 50 Dx 49 m/+ Dx 23 Dx 16 m1/+ 1 # * 2 # * m2/+ PVOD3 c.745c>t c.2136_2139dup m1/+ 1* 2* m2/+ PVOD4 c.1392del c.3802c>t # * 3 # * Dx 23 Dx 45 m1 m2 1* 2* Dx 20 Dx 20 m1 m2 PVOD5 c.567dup 14 5 m V * 3* Dx 27 Dx 20
3 B. PVOD6 PVOD7 PVOD8 c.3159g>a c.3406c>t c.1754g>a 5 3 Dx 17 Dx 26 2 m Dx 32 m Dx 26 m PVOD9 c g>c PVOD10 c.1387c>t PVOD11 c.3448c>t c _ delinsttct? m? m 3 4 m1 m2 Dx 36 Dx 18 Dx 17 Dx 37 PVOD12 PVOD13 c.1387c>t c.3244c>t c.1928t>g 3 Dx 44 7 m1 m2 4 m/+ m/+ 6 m (HTZ) m (HMZ) V 3 Dx 11 4
4 Supplementary Figure 2. EF2AK4 mutations identified in PVOD families. Pedigree structures and Sanger sequence chromatograms from PVOD families with EF2AK4 mutations identified by (A) whole-exome sequencing or (B) targeted secondary screening, are shown. Subjects included in the linkage analysis are indicated by a hash key, and those analyzed by exome sequencing are indicated by a star. Affected subjects are denoted by filled symbols and arrows designate probands. Subjects suspected to be affected are denoted by striped symbols. Dx indicates age at diagnosis. Genotypes of screened family members are shown under each symbol, with indicating a homozygous mutation, indicating compound heterozygous mutations. Chromatograms show mutated patient or control subject sequences. Above each chromatogram, the corresponding nucleotide change is indicated according to HGVS nomenclature.
5 A. Wt Wt c c>a c.3159g>a B. c c>a Exon 9 Exon 10..AAAGAA AGAG ATGTGTGT. c.3159g>a Exon 20 Exon 21 Exon 22 AAAGAAAGATGTGTGT Exon 20 Exon 22 Exon 20 Exon 22 r _1554-1ins p.c519dfs*17 r.2923_3159del p.k975_k1053del Supplementary figure 3. Analysis of splicing variant c c>a and c.3159g>a.(a) n silico analysis of the two splicing variants by splicing predictions tools Splice Site Finder, MaxEntScan, Nnsplice, GeneSplicer and Human Splicing Finder. The c c>a mutation was predicted to create a acceptor site at position c by all prediction tools and the c.3159g>a mutation was predicted to abolished (Splice Site Finder, Nnsplice) or dramatically reduced the score (MaxEntScan, GeneSplicer and Human Splicing Finder) of the acceptor site of intron 21.(B) Consequences at the cdna level of the two splicing variants. The c c>a mutation leads to the inclusion of 2 bases of intron 9 into the mature mrna. The c.3159g>a mutation leads to the skipping of exon 21 into the mature mrna.
6 Supplementary Table 1. Genetic, clinical, functional and hemodynamic characteristics of patients analyzed by exome sequencing at the time of PVOD diagnosis. Family number PVOD1 PVOD2 PVOD3 PVOD4 PVOD5 ndividual V-2 V-3 EF2AK4 mutation status Compound HTZ HMZ Compound HTZ Compound HTZ HMZ Mutation - Nucleotide change - Protein effect c.[354_355del];[1554-4c>a] p.[c118wfs*7];[c519dfs*17] c.[2319+1g>a];[2319+1g>a] p.[?];[?] c.[745c>t];[2136_2139dup] p.[r249*];[s714hfs*21] c.[1392del];[3802c>t] p.[r465vfs*38];[q1268*] c.[567dup];[567dup] p.[l190efs*8];[l190efs*8] Consanguinity Age at PVOD diagnosis, yrs Gender F F F M F F M M F F F NYHA Functional Class MWD, m mpap, mmhg RAP, mmhg PCWP, mmhg CO, L/min C, L/min/m² PVR, mmhg/l/min SvO 2, % DLCO, % CT scan : - Centrilobular GGO - septals lines - enlarged mediastinal lymph nodes PAH therapy: - CCB - PDE5-i - ERA - Prostanoids Outcome at 12 months at 8 months Alive at 1 month at 36 months at 21 months at 26 months at 17 months Alive at 70 months Alive at 17 months Died at 28 months at 1 month
7 Mutations are described according to HGVS nomenclature. CCB: calcium channel blocker, C: cardiac index, CO: cardiac output, ERA: endothelin receptor antagonist, GGO: ground glass opacities; : Lung transplantation; mpap: mean pulmonary artery pressure, NYHA: New York Heart Association, PCWP: pulmonary capillary wedge pressure, PDE5-i: phosphodiesterase type 5 inhibitor PVR: pulmonary vascular resistance, RAP: right atrial pressure, SvO 2 : mixed venous oxygen saturation, 6-MWD: 6-minute walk distance, HTZ: heterozygous, HMZ: homozygous, : lung transplant.
8 Supplementary Table 2. Genetic, clinical, functional and hemodynamic characteristics of index cases from PVOD families at the time of PVOD diagnosis. Family number ndividual PVOD6 PVOD7 PVOD8 PVOD9 PVOD10 PVOD11 PVOD12 PVOD V-3 EF2AK4 mutation status HMZ HMZ HMZ HMZ HMZ Compound HTZ Compound HTZ HMZ Mutation -Nucleotide change - Protein effect c.[3159g>a];[3159g>a] p.[k975_k1053del];[k975_k1053del] c.[3406c>t];[3406c>t] p.[r1136*];[r1136*] c.[1754g>a];[1754g>a] p.[r585q];[r585q] c.[4065+1g>c];[4065+1g>c] p.[?];[?] c.[1387c>t];[1387c>t] p.[r463*];[r463*] c.[3448c>t(;)4728+1_ delinsTTCT] p.[r1150*(;)?] c.[1387c>t];[3244c>t] p.[r463*];[q1082*] c.[1928t>g];[ 1928T>G] p.[l643r];[l643r] Consanguinity N/A Age at PVOD diagnosis, yrs Gender M M M M M F M M NYHA Functional Class N/A 6-MWD, m mpap, mmhg RAP, mmhg PCWP, mmhg CO, L/min C, L/min/m² PVR, mmhg/l/min SvO 2, % DLCO, % rmal CT scan: - Centrilobular GGO - septals lines - enlarged mediastinal lymph nodes - N/A N/A N/A PAH therapy: - CCB - PDE5-i - ERA - Prostanoids Outcome at 59 months at 23 months at 33 months Died at 27 months Died at 2 months Died at 63 months at 37 months Alive at 6months
9 Mutations are described according to HGVS nomenclature., CCB: calcium channel blocker, C: cardiac index, CO: cardiac output, ERA: endothelin receptor antagonist, GGO: ground glass opacities; : Lung transplantation; mpap: mean pulmonary artery pressure, NYHA: New York Heart Association, PCWP: pulmonary capillary wedge pressure, PDE5-i: phosphodiesterase type 5 inhibitor PVR: pulmonary vascular resistance, RAP: right atrial pressure, SvO 2 : mixed venous oxygen saturation, 6-MWD: 6-minute walk distance, HTZ: heterozygous, HMZ: homozygous, : lung transplant.
10 Supplementary Table 3. Genetic, clinical, functional and hemodynamic characteristics of mutation carrier patients with sporadic PVOD at the time of PVOD diagnosis. ndividual EF2AK4 mutation status HMZ HMZ Compound HTZ HMZ HMZ Mutation -Nucleotide change - Protein effect c.[560_564del];[560_564del] p.[k187rfs*9];[k187rfs*9] c.[3159g>a];[ 3159G>A] p.[k975_k1053del];[k975_k1053del] c.[2857c>t]( ;)[ G>T] p.[q953*]( ;)[?] c.[4205dup];[4205dup] p.[s1403kfs*45];[s1403kfs*45] c.[2458c>t] ;[2458C>T] p.[r820*] ;[R820*] Age at PVOD diagnosis, yrs Gender F F M M F NYHA Functional Class V V 6-MWD, m mpap, mmhg RAP, mmhg PCWP, mmhg CO, L/min C, L/min/m² PVR, mmhg/l/min SvO2, % DLCO, % CT scan: - Centrilobular GGO - septals lines - enlarged mediastinal lymph nodes PAH therapy: - CCB - PDE5-i - ERA - Prostanoids Outcome at 1 month at 5 months at 2 months at 4 months at 36 months
11 Mutations are described according to HGVS nomenclature. CCB: calcium channel blocker, C: cardiac index, CO: cardiac output, ERA: endothelin receptor antagonist, GGO: ground glass opacities; : Lung transplantation; mpap: mean pulmonary artery pressure, NYHA: New York Heart Association, PCWP: pulmonary capillary wedge pressure, PDE5-i: phosphodiesterase type 5 inhibitor PVR: pulmonary vascular resistance, RAP: right atrial pressure, SvO 2 : mixed venous oxygen saturation, 6-MWD: 6-minute walk distance, HTZ: heterozygous, HMZ: homozygous, : lung transplant.
12 Exon Forward Reverse 1 5 -CCCATAGCCCGTCCCCAG-3 5 -CCAATCTGGAAGTGTCCGGG AATGATTGGCTCTACAGCTTTG-3 5 -CGAATTTCAATCTGTTTCTATGTTG GTTTAGCAAATATTAATGCAAACAGG-3 5 -TTTGAGGTGTAATGGGGAAGTT GGGCCTTCCCATTATTTGAT-3 5 -ACAGTAGTTTGCAATCCTCCA TCCATAATTTATATGTTGTATGGGTTT-3 5 -CAGATGTCATCAGTGGAAATAAAAA TTATGTACCATGATTTTCTTCCATGT-3 5 -TTCTACATCTGTCATTCTCCCAGA CAGTAATAAACGGGAGAAAATGG-3 5 -GGGAGCCAGAATGACTACCA TGTATTACCCCCTCCCTTCC-3 5 -CTCAGTCAGCCACCTTGGAT-3 9a 5 -CACTTTTGAAATGAAACCCAAG-3 5 -CGAGGCGCTTAGAAATGCT-3 9b 5 -TCAGGCCTTGATTATCTGCAC-3 5 -AGATGTCTGGCACACTCCAG AGCACTGATTGTTTGTGATGCT-3 5 -TTTAATGTCAAACAGGTTACCAAA AGCTCTTCTTCCAGGGCTTC-3 5 -CCCCACTCCCAAAATAAAAG CTGACCTTCCCCTGGCTGT-3 5 -ATCAGAGGCAGCTGGTCC TAATGATAATAGGGATTTCTGTTCCTT-3 5 -ACATCAGACGTCAATTATATCACGA TGCTTAATTTTGGCCTCCAT-3 5 -GGGTGTTGCTGTGTCACCTA CCTTCACTTAAAACTGTTGTGTAATCA-3 5 -TTACATTTGATATTTTTATGCAGTCA TGGCCTTTTAAATTAGGAAGTAGG-3 5 -TCCGCTAACACTTCCAGGAT TTCATTTAGAAACAGACAAGCCATT-3 5 -GGTTTCAGGTTAAGAAATTCTGG TTTTTAGTTTGTGTCTTCTGTAAGTGC-3 5 -TTGACTATTTTAGCCGGGAC TTCCCTGGTAAATTATACTTTCATATC-3 5 -TCCTGCTTTGAATTCTGATCTC ATGCTTTCACTGTGGCAGTC-3 5 -TGGCAGAAGATTACTAATTGAAAAA CGAATTTCAATCTGTTTCTATGTTG-3 5 -GGCTTGATCCTTTTGTGGAC GCCTACTGCAAGCCACAGAT-3 5 -TGATATGCCCGAACACTAACAG GCAATTACTTAACTGTCAGGTTTGTG-3 5 -GAGATGCCATCCCTGTGACT TTTCAATAAAGCCGCTATTAACAAAAG-3 5 -ATAAAATATTCTTTCCTGGTTGACAAA-3
13 25 5 -AAGCAATGACCTTAGAAATCTGG-3 5 -CTGTGGTTTTCCCCACCAC CCAGATTTGGTCATGTACCAGTAA-3 5 -TCAACATCAAGGTATTATCTTTCAACA TTGTTCAGTGCCAGATTTCG-3 5 -GGCTGCTACCCTACTGCAAC GGAGTCTTCCCCTGCTGTG-3 5 -AACACATTTCCTCCCTGTGC TTCCACATTCTAAATTTCAAACC-3 5 -GAAGAAATAAAATTAAGTCAGAGCAAA TTCTTTCCTATTTCATAACCATAACTG-3 5 -ATGACTGCAAAAGGCAAATCA CCCTCCTGATGCTGGTTTC-3 5 -GCCATGAAAGCCATAGCAA TTGGAAACAGTATTTTCATTCTCC-3 5 -CAGGTGCTCCACAGGTAACA TGTGGTGCTCTGAGCTAGTCTT-3 5 -GCACCTGGCTCAAATTGACT TTCACTGTAAGTTATGTGTTGCTTG-3 5 -GCTACAGTAATAAGTGCTTAGAGCAAA GGGACCAGATAAGGCCATAAA-3 5 -TTCCTTTCCTGTTGTTGTTTTTC GGGATAGGAAATAAGATGGCAAG-3 5 -TGCATCCAAATTCTGCTGAC TTCATACTGCTGCATTTCACG-3 5 -TGCCGTCTTCAGTATTTTGG GAATTTCATTAGTGACCCAGAAAAA-3 5 -AGGCGTCAAACCTCAACAAG GCTCTGTTCTTCACTCATTAAACTG-3 5 -AATGTACAACATTCCATTATTCCA-3 Supplementary Table 4. Oligonucleotides used for PCR amplification of the entire coding sequence and intronic junctions of the EF2AK4 gene
Cardiac Catheterization is Unnecessary in the Evaluation of Patients with Pulmonary Hypertension: CON
Cardiac Catheterization is Unnecessary in the Evaluation of Patients with Pulmonary Hypertension: CON Dunbar Ivy, MD The Children s s Hospital Heart Institute 1 Diagnostic Evaluation: Right Heart Cardiac
More informationThe Hemodynamics of PH Interpreting the numbers
The Hemodynamics of PH Interpreting the numbers Todd M Bull MD Associate Professor of Medicine Division of Pulmonary Sciences and Critical Care Medicine Pulmonary Hypertension Center University of Colorado
More informationDr. Md. Rajibul Alam Prof. of Medicine Dinajpur Medical college
Dr. Md. Rajibul Alam Prof. of Medicine Dinajpur Medical college PULMONARY HYPERTENSION Difficult to diagnose early Because Not detected during routine physical examination and Even in advanced cases symptoms
More informationSA XXXX Special Authority for Subsidy
SA XXXX Special Authority for Subsidy Special authority approved by the Pulmonary Arterial Hypertension (PAH) Panel. Application forms can be obtained from PHARMAC s website: www.pharmac.govt.nz or: PAH
More informationPulmonary Hypertension: Another Use for Viagra
Pulmonary Hypertension: Another Use for Viagra Kathleen Tong, MD Director, Heart Failure Program Assistant Clinical Professor University of California, Davis Disclosures I have no financial conflicts A
More informationPulmonary veno-occlusive disease
Pulmonary veno-occlusive disease Dr David MONTANI French Referral Centre for Severe Pulmonary Hypertension Hôpital de Bicêtre, DHU Thorax Innovation INSERM U999, LabEx LERMIT Université Paris-Sud CLASSIFICATION
More informationTeaching Round Claudio Sartori
Teaching Round 14.03.2017 Claudio Sartori Cas clinique Femme 47 ans, connue pour un BPCO, asthénie, douleurs thoraciques, dyspnée à l effort, œdèmes membres inférieurs, deux syncopes. Tabac, BMI 31 kg/m2
More informationPulmonary arterial hypertension. Pulmonary arterial hypertension: newer therapies. Definition of PH 12/18/16. WHO Group classification of PH
Pulmonary arterial hypertension Pulmonary arterial hypertension: newer therapies Ramona L. Doyle, MD Clinical Professor of Medicine, UCSF Attending Physician UCSF PH Clinic Definition and classification
More informationPulmonary Hypertension: When to Initiate Advanced Therapy. Jonathan D. Rich, MD Associate Professor of Medicine Northwestern University
Pulmonary Hypertension: When to Initiate Advanced Therapy Jonathan D. Rich, MD Associate Professor of Medicine Northwestern University Disclosures Medtronic, Abbott: Consultant Hemodynamic Definition of
More informationELIGIBILITY CRITERIA FOR PULMONARY ARTERIAL HYPERTENSION THERAPY
ELIGIBILITY CRITERIA FOR PULMONARY ARTERIAL HYPERTENSION THERAPY Contents Eligibility criteria for Pulmonary Arterial Hypertension therapy...2-6 Initial Application for funding of Pulmonary Arterial Hypertension
More informationPrognostic value of echocardiographic parameters in patients with pulmonary arterial hypertension (PAH) treated with targeted therapies
Prognostic value of echocardiographic parameters in patients with pulmonary arterial hypertension (PAH) treated with targeted therapies E. Beciani, M. Palazzini, C. Bachetti, F. Sgro, E. Conficoni, E.
More informationThe Case of Marco Nazzareno Galiè, M.D.
The Case of Marco Nazzareno Galiè, M.D. DIMES Disclosures Consulting fees and research support from Actelion Pharmaceuticals Ltd, Bayer HealthCare, Eli Lilly and Co, GlaxoSmithKline and Pfizer Ltd Clinical
More informationACCP PAH Medical Therapy Guidelines: 2007 Update. David Badesch, MD University of Colorado School of Medicine Denver, CO
ACCP PAH Medical Therapy Guidelines: 2007 Update David Badesch, MD University of Colorado School of Medicine Denver, CO Disclosure of Commercial Interest Dr. Badesch has received grant/research support
More informationPulmonary veno-occlusive disease
Disclosure Objectives Pulmonary veno-occlusive disease Tilman Humpl The Hospital for Sick Children University of Toronto, Canada Advisor/Research Grants Actelion Pfizer Historical aspects Epidemiology/Genetics
More informationPulmonary hypertension in sarcoidosis
Pulmonary hypertension in sarcoidosis Olivier SITBON Centre de Référence de l Hypertension Pulmonaire Sévère Hôpital Universitaire de Bicêtre INSERM U999 Université Paris-Sud Le Kremlin-Bicêtre France
More informationComparison between adult and pediatric populations with I/HPAH and PAH-CHD in the Bologna ARCA registry
nazzareno.galie@unibo.it Comparison between adult and pediatric populations with I/HPAH and PAH-CHD in the Bologna ARCA registry Nazzareno Galiè, MD, FESC, FRCP (Hon), DIMES 2 Comprehensive clinical classification
More informationPulmonary Hypertension in 2012
Pulmonary Hypertension in 2012 Evan Brittain, MD December 7, 2012 Kingston, Jamaica VanderbiltHeart.com Disclosures None VanderbiltHeart.com Outline Definition and Classification of PH Hemodynamics of
More informationCautious epoprostenol therapy is a safe bridge to lung transplantation in pulmonary veno-occlusive disease
Eur Respir J 2009; 34: 1348 1356 DOI: 10.1183/09031936.00017809 CopyrightßERS Journals Ltd 2009 Cautious epoprostenol therapy is a safe bridge to lung transplantation in pulmonary veno-occlusive disease
More information1. Phosphodiesterase Type 5 Enzyme Inhibitors: Sildenafil (Revatio), Tadalafil (Adcirca)
This policy has been developed through review of medical literature, consideration of medical necessity, generally accepted medical practice standards, and approved by the IEHP Pharmacy and Therapeutic
More informationRecent Treatment of Pulmonary Artery Hypertension. Cardiology Division Yonsei University College of Medicine
Recent Treatment of Pulmonary Artery Hypertension Cardiology Division Yonsei University College of Medicine Definition Raised Pulmonary arterial pressure (PAP) WHO criteria : spap>40 mmhg NIH Criteria
More informationChapter. Diffusion capacity and BMPR2 mutations in pulmonary arterial hypertension
Chapter 7 Diffusion capacity and BMPR2 mutations in pulmonary arterial hypertension P. Trip B. Girerd H.J. Bogaard F.S. de Man A. Boonstra G. Garcia M. Humbert D. Montani A. Vonk Noordegraaf Eur Respir
More informationReal-world experience with riociguat in CTEPH
Real-world experience with riociguat in CTEPH Matthias Held Center of Pulmonary Hypertension and Pulmonary Vascular Disease, Medical Mission Hospital, Würzburg, Germany Tuesday, 29 September ERS International
More informationLearning Objective. Upon completion, participants should be able to:
Learning Objective Upon completion, participants should be able to: Describe evidence-based approaches to the measurement and management of health-related quality of life among patients with PAH 1 Recommendations
More informationClinical Science Working Group 6: Diagnosis & Assessment of PAH. Co-chairs: David B. Badesch, MD Marius M. Hoeper, MD. Working Group 6 Members
Clinical Science Working Group 6: Diagnosis & Assessment of PAH Co-chairs: David B. Badesch, MD Marius M. Hoeper, MD Working Group 6 Members Harm Jan Bogaard, Robin Condliffe, Robert Frantz, Dinesh Khanna,
More informationManaging Multiple Oral Medications
Managing Multiple Oral Medications Chris Archer-Chicko, MSN, CRNP PENN Presbyterian Medical Center Arlene Schiro,, CRNP Massachusetts General Hospital Mary Bartlett, CRNP Winthrop University Hospital PH
More informationPADN-5 Trial. Pulmonary artery denervation significantly increases 6-minute walk distance for patients with CpcPH: The PADN-5 Study
PADN-5 PADN-5 Trial Pulmonary artery denervation significantly increases 6-minute walk distance for patients with CpcPH: The PADN-5 Study Shao-Liang Chen, MD Hang Zhang, Juan Zhang, Mengxuan Chen, Dujiang
More informationDisclosures. Inhaled Therapy in Pediatric Pulmonary Hypertension. Inhaled Prostacyclin: Rationale. Outline
Disclosures Inhaled Therapy in Pediatric Pulmonary Hypertension The University of Colorado receives fees for Dr Ivy to be a consultant for Actelion, Gilead, Lilly, Pfizer, and United Therapeutics Dunbar
More informationdifferent phenotypes
Pulmonary hypertension in scleroderma: different phenotypes UMR 995 Pr David LAUNAY, MD, PhD launayd@gmail.com Service de Médecine Interne. Unité d'immunologie Clinique CNRMR Maladies Systémiques et Autoimmunes
More informationEffectively treating patients with pulmonary hypertension: The next chapter. Lowering PAP will improve RV function in PH
Effectively treating patients with pulmonary hypertension: The next chapter Stuart Rich, M.D. Hemodynamic Progression of PAH Preclinical Symptomatic/ Stable Pulmonary Pressure Progressive/ Declining Level
More information*Division of Pulmonary, Sleep, and Critical Care Medicine, Rhode Island Hospital, Alpert Medical School of Brown University, Providence, RI, USA
The Relationship between NO Pathway Biomarkers and Response to Riociguat in the RESPITE Study of Patients with PAH Not Reaching Treatment Goals with Phosphodiesterase 5 Inhibitors James R Klinger,* Raymond
More informationUpdate in Pulmonary Arterial Hypertension
Update in Pulmonary Arterial Hypertension Michael J Sanley, MD April 12, 2018 Disclosures I have nothing to disclose 2 1 Case Presentation 67 yo male with atrial fibrillation, CLL on IVIG, presents with
More informationTHERAPEUTICS IN PULMONARY ARTERIAL HYPERTENSION Evidences & Guidelines
THERAPEUTICS IN PULMONARY ARTERIAL HYPERTENSION Evidences & Guidelines Vu Nang Phuc, MD Dinh Duc Huy, MD Pham Nguyen Vinh, MD, PhD, FACC Tam Duc Cardiology Hospital Faculty Disclosure No conflict of interest
More informationFUNDAMENTALS OF HEMODYNAMICS, VASOACTIVE DRUGS AND IABP IN THE FAILING HEART
FUNDAMENTALS OF HEMODYNAMICS, VASOACTIVE DRUGS AND IABP IN THE FAILING HEART CINDY BITHER, MSN, ANP, ANP, AACC, CHFN CHIEF NP, ADV HF PROGRAM MEDSTAR WASHINGTON HOSPITAL CENTER CONFLICTS OF INTEREST NONE
More informationPULMONARY HYPERTENSION & THALASSAEMIA
3rd Pan-American Thalassaemia Conference Buenos Aires 2010 Dr Malcolm Walker Cardiologist University College & the Heart Hospital LONDON Clinical Director Hatter Cardiovascular Institute - UCLH PULMONARY
More informationTopics to be Covered. Cardiac Measurements. Distribution of Blood Volume. Distribution of Pulmonary Ventilation & Blood Flow
Topics to be Covered MODULE F HEMODYNAMIC MONITORING Cardiac Output Determinants of Stroke Volume Hemodynamic Measurements Pulmonary Artery Catheterization Control of Blood Pressure Heart Failure Cardiac
More informationDisclosures. Objectives. RV vs LV. Structure and Function 9/25/2016. A Look at the Other Side: Focus on the Right Ventricle and Pulmonary Hypertension
Disclosures A Look at the Other Side: Focus on the Right Ventricle and Pulmonary Hypertension No financial relationships Susan P. D Anna MSN, APN BC, CHFN September 29, 2016 Objectives RV vs LV Differentiate
More informationPulmonary arterial hypertension (PAH) is a
Eur Respir J 2007; 30: 1103 1110 DOI: 10.1183/09031936.00042107 CopyrightßERS Journals Ltd 2007 A USA-based registry for pulmonary arterial hypertension: 1982 2006 T. Thenappan, S.J. Shah, S. Rich and
More informationDisclosures. Objectives 6/16/2016. A Look at the Other Side: Focus on the Right Ventricle and Pulmonary Hypertension
A Look at the Other Side: Focus on the Right Ventricle and Pulmonary Hypertension Susan P. D Anna MSN, APN-BC, CHFN June 24, 2016 Disclosures Objectives Differentiate structure and function of RV and LV
More informationPULMONARY ARTERIAL HYPERTENSION AGENTS
Approvable Criteria: PULMONARY ARTERIAL HYPERTENSION AGENTS Brand Name Generic Name Length of Authorization Adcirca tadalafil Calendar Year Adempas riociguat Calendar Year Flolan epoprostenol sodium Calendar
More informationSATELLITE SYMPOSIUM OF MSD. sgc Stimulation for the treatment of PH. Real life management of PAH: case presentation
SATELLITE SYMPOSIUM OF MSD sgc Stimulation for the treatment of PH Real life management of PAH: case presentation Eftychia Demerouti MD, MSc, PhD Cardiologist Onassis Cardiac Surgery Center Conflict of
More informationPulmonary hypertension. Miloslav Špaček, MD
Pulmonary hypertension Miloslav Špaček, MD Key points Pulmonary hypertension (PH) is a hemodynamic and pathophysiological abnormality found in many clinical conditions, most commonly heart and lung disease
More informationAnjali Vaidya, MD, FACC, FASE, FACP Associate Director, Pulmonary Hypertension, Right Heart Failure, Pulmonary Thromboendarterectomy Program Advanced
Anjali Vaidya, MD, FACC, FASE, FACP Associate Director, Pulmonary Hypertension, Right Heart Failure, Pulmonary Thromboendarterectomy Program Advanced Heart Failure & Cardiac Transplant Temple University
More informationThe Case of Lucia Nazzareno Galiè, M.D.
The Case of Lucia Nazzareno Galiè, M.D. DIMES Disclosures Consulting fees and research support from Actelion Pharmaceuticals Ltd, Bayer HealthCare, Eli Lilly and Co, GlaxoSmithKline and Pfizer Ltd Clinical
More informationMedium-Chain Acyl-CoA Dehydrogenase (MCAD) splicing mutations identified in newborns with an abnormal MS/MS profile
EURASNET Workshop on RNA splicing and genetic diagnosis, London, UK Medium-Chain Acyl-CoA Dehydrogenase (MCAD) splicing mutations identified in newborns with an abnormal MS/MS profile Brage Storstein Andresen
More informationCase Presentation : Pulmonary Hypertension: Diagnosis and Imaging
Case Presentation 9.40-11.20: Pulmonary Hypertension: Diagnosis and Imaging Eftychia Demerouti MD, MSc, PhD Cardiologist Onassis Cardiac Surgery Center Conflicts of interest Consulting fees and fees for
More informationNATIONAL INSTITUTE FOR HEALTH AND CLINICAL EXCELLENCE. Health Technology Appraisal. Drugs for the treatment of pulmonary arterial hypertension
NATIONAL INSTITUTE FOR HEALTH AND CLINICAL EXCELLENCE Health Technology Appraisal Drugs for the treatment of Draft remit / appraisal objective: Draft scope To appraise the clinical and cost effectiveness
More informationPULMONARY HYPERTENSION RESPIRATORY & CRITICAL CARE CONFERENCE APRIL 21, 2016 LAURA G. HOOPER
PULMONARY HYPERTENSION RESPIRATORY & CRITICAL CARE CONFERENCE APRIL 21, 2016 LAURA G. HOOPER OUTLINE Brief review of WHO Group Classification Scheme Subgroups we ll focus on: WHO Group I Pulmonary Arterial
More informationPulmonary Arterial Hypertension - Overview
Pulmonary Arterial Hypertension - Overview J. Shaun Smith, MD Co-Director, Pulmonary Vascular Disease Program Assistant Professor of Medicine Division of Pulmonary, Critical Care and Sleep Medicine The
More informationPulmonary Arterial Hypertension - Overview
Pulmonary Arterial Hypertension - Overview J. Shaun Smith, MD Co-Director, Pulmonary Vascular Disease Program Assistant Professor of Medicine Division of Pulmonary, Critical Care and Sleep Medicine The
More informationNavigating the identification, diagnosis and management of pulmonary hypertension using the updated ESC/ERS guidelines
Navigating the identification, diagnosis and management of pulmonary hypertension using the updated ESC/ERS guidelines Host: Marc Humbert Speaker: Simon Gibbs Marc HUMBERT, MD, PhD Professor of Respiratory
More informationPrecision medicine and personalising therapy in pulmonary hypertension: seeing the light from the dawn of a new era.
1. Eur Respir Rev. 2018 Apr 13;27(148). pii: 180004. doi: 10.1183/16000617.0004-2018. Print 2018 Jun 30. Precision medicine and personalising therapy in pulmonary hypertension: seeing the light from the
More informationGenotype-Phenotype in Egyptian Patients with Nephropathic Cystinosis. (December 2012 report)
Genotype-Phenotype in Egyptian Patients with Nephropathic Cystinosis (December 2012 report) This is the first study of the genotype of Nephropathic Cystinosis (NC) patients in Egypt and the region of North
More informationPulmonary Hypertension: Follow-up in adolescence and adults
Pulmonary Hypertension: Follow-up in adolescence and adults Helmut Baumgartner Westfälische Wilhelms-Universität Münster Adult Congenital and Valvular Heart Disease Center University of Muenster Germany
More informationPulmonary Hypertension. Murali Chakinala, M.D. Washington University School of Medicine
Pulmonary Hypertension Murali Chakinala, M.D. Washington University School of Medicine Pulmonary Circulation Alveolar Capillary relationship Pulmonary Circulation High flow, low resistance PVR ~1/15 of
More informationAdvances in Pharmacotherapy of PAH
24 th Annual Advances in Heart Disease Advances in Pharmacotherapy of PAH Gabriel Gregoratos, MD 12/14/2007 UCSF Cardiology 1 Faculty Disclosure Statement for Gabriel Gregoratos, MD Nothing to disclose
More informationProgress in PAH. Gerald Simonneau
Progress in PAH Gerald Simonneau National Reference center for Pulmonary Hypertension Bicetre University Hospital, INSERM U 999 Paris-Sud University Le Kremlin Bicêtre France Clinical Classification of
More informationRight Heart Catheterization. Franz R. Eberli MD Chief of Cardiology Stadtspital Triemli, Zurich
Right Heart Catheterization Franz R. Eberli MD Chief of Cardiology Stadtspital Triemli, Zurich Right Heart Catheterization Pressure measurements Oxygen saturation measurements Cardiac output, Vascular
More informationThe US REVEAL Registry
Pulmonary Hypertension: Lessons from Contemporary Registries The US REVEAL Registry ESC August 30, 2010 Dave Badesch, MD University of Colorado Disclosures Dr. Badesch has received grant/research support
More informationBrief View of Calculation and Measurement of Cardiac Hemodynamics
Cronicon OPEN ACCESS EC CARDIOLOGY Review Article Brief View of Calculation and Measurement of Cardiac Hemodynamics Samah Alasrawi* Pediatric Cardiologist, Al Jalila Children Heart Center, Dubai, UAE *
More informationCogent 2-in-1 Hemodynamic Monitoring System
Cogent 2-in-1 Hemodynamic Monitoring System Minimally invasive and invasive hemodynamic monitoring technologies in a single, lightweight system with wireless communication The flexibility you ve been asking
More informationPulmonary Arterial Hypertension (PAH) Treatments
Care1st Health Plan Arizona, Inc. Easy Choice Health Plan Harmony Health Plan of Illinois Missouri Care Ohana Health Plan, a plan offered by WellCare Health Insurance of Arizona OneCare (Care1st Health
More informationPFIZER INC. THERAPEUTIC AREA AND FDA APPROVED INDICATIONS: See United States Package Insert (USPI)
PFIZER INC. These results are supplied for informational purposes only. Prescribing decisions should be made based on the approved package insert. For publications based on this study, see associated bibliography.
More informationSupplemental Information For: The genetics of splicing in neuroblastoma
Supplemental Information For: The genetics of splicing in neuroblastoma Justin Chen, Christopher S. Hackett, Shile Zhang, Young K. Song, Robert J.A. Bell, Annette M. Molinaro, David A. Quigley, Allan Balmain,
More informationRole of Combination PAH Therapies
Role of Combination PAH Therapies Ronald J. Oudiz, MD, FACP, FACC Associate Professor of Medicine, David Geffen School of Medicine at UCLA Director, Liu Center for Pulmonary Hypertension Los Angeles Biomedical
More informationTreatment of Paediatric Pulmonary Hypertension
Treatment of Paediatric Pulmonary Hypertension Dunbar Ivy, MD The Children s Hospital Heart Institute University of Colorado School of Medicine 1 Disclosures I have the following financial relationships
More informationTREPROSTINIL Generic Brand HICL GCN Exception/Other TREPROSTINIL REMODULIN 23650
Generic Brand HICL GCN Exception/Other TREPROSTINIL REMODULIN 23650 SODIUM TREPROSTINIL TYVASO 36537 36539 36541 TREPROSTINIL ORENITRAM 40827 **Please use the criteria for the specific drug requested**
More informationADVANCED THERAPIES FOR PHARMACOLOGICAL TREATMENT OF PULMONARY HYPERTENSION
Status Active Medical and Behavioral Health Policy Section: Medicine Policy Number: II-107 Effective Date: 04/21/2014 Blue Cross and Blue Shield of Minnesota medical policies do not imply that members
More informationSupplementary Figure 1. Linkage analysis of Family 7. Red arrow, position of SRRM2 gene in chromosome16.
A germline mutation in SRRM2, a splicing factor gene, is implicated in papillary thyroid carcinoma predisposition Jerneja Tomsic 1, Huiling He 1, Keiko Akagi 1, Sandya Liyanarachchi 1, Qun Pan 2, Blake
More informationCDEC FINAL RECOMMENDATION
CDEC FINAL RECOMMENDATION Macitentan (Opsumit Actelion Pharmaceuticals Canada Inc.) Indication: Pulmonary Arterial Hypertension Recommendation: The Canadian Drug Expert Committee (CDEC) recommends that
More informationPulmonary Hypertension Essentials. PD Dr. med. Silvia Ulrich Somaini University Hospital of Zurich
Pulmonary Hypertension Essentials PD Dr. med. Silvia Ulrich Somaini University Hospital of Zurich Agenda Basics and Presentation Classification Diagnosis Pathogenesis Diagnosis Treatment Pathogenesis and
More informationIdentifying Appropriate Treatment & Management Strategies in Pulmonary Arterial Hypertension
Identifying Appropriate Treatment & Management Strategies in Pulmonary Arterial Hypertension Harold I. Palevsky, M.D. Perelman School of Medicine of the University of Pennsylvania Penn Presbyterian Medical
More informationOral Therapies for Pulmonary Arterial Hypertension
Oral Therapies for Pulmonary Arterial Hypertension Leslie Wooten, PharmD PGY2 Internal Medicine Pharmacy Resident University of Cincinnati Medical Center April 30 th, 2018 Objectives Pharmacist Objectives
More informationTherapeutic Advances in Respiratory Disease. Original Research
573373TAR0010.1177/1753465815573373Therapeutic Advances in Respiratory DiseaseC Howard, K Rangajhavala research-article2015 Therapeutic Advances in Respiratory Disease Original Research Pulmonary artery
More informationVariant Classification. Author: Mike Thiesen, Golden Helix, Inc.
Variant Classification Author: Mike Thiesen, Golden Helix, Inc. Overview Sequencing pipelines are able to identify rare variants not found in catalogs such as dbsnp. As a result, variants in these datasets
More informationSTARTS-1 and -2. Barst R, Ivy DD, et al. Circulation 2012;125:
STARTS-1 and -2 A randomized, double-blind,16 week placebo controlled, dose ranging, parallel group study of oral monotherapy sildenafil in treatment naive children, aged 1-17 years, with pulmonary arterial
More informationDr.Fayez EL Shaer Consultant cardiologist Assistant professor of cardiology KKUH
Pulmonary Hypertension in patients with Heart Failure with Preserved Ejection Fraction Dr.Fayez EL Shaer Consultant cardiologist Assistant professor of cardiology KKUH Recent evaluation of available data
More informationNothing to Disclose. Severe Pulmonary Hypertension
Severe Ronald Pearl, MD, PhD Professor and Chair Department of Anesthesiology Stanford University Rpearl@stanford.edu Nothing to Disclose 65 year old female Elective knee surgery NYHA Class 3 Aortic stenosis
More informationPulmonary Hypertension Perioperative Management
Pulmonary Hypertension Perioperative Management Bruce J Leone, MD Professor of Anesthesiology Chief, Neuroanesthesiology Vice Chair for Academic Affairs Mayo Clinic Jacksonville, Florida Introduction Definition
More informationΕιδικές θεραπείες σε µη-αρτηριακή πνευµονική υπέρταση, πότε; - Στέλλα Μπρίλη Α Πανεπιστηµιακή Καρδιολογική Κλινική Ιπποκράτειο Νοσοκοµείο Αθηνών
Ειδικές θεραπείες σε µη-αρτηριακή πνευµονική υπέρταση, πότε; - Στέλλα Μπρίλη Α Πανεπιστηµιακή Καρδιολογική Κλινική Ιπποκράτειο Νοσοκοµείο Αθηνών . Updated Clinical Classification of Pulmonary Hypertension
More informationClinical Commissioning Policy: Selexipag for treating pulmonary arterial hypertension (all ages)
Clinical Commissioning Policy: Selexipag for treating pulmonary arterial hypertension (all ages) NHS England Reference: 170065P 1 NHS England INFORMATION READER BOX Directorate Medical Operations and Information
More informationPulmonary Hypertension: Clinical Features & Recent Advances
Pulmonary Hypertension: Clinical Features & Recent Advances Lisa J. Rose-Jones, MD Assistant Professor of Medicine, Division of Cardiology Advanced Heart Failure/Cardiac Transplantation & Pulmonary Hypertension
More informationTBLB is not recommended as the initial biopsy option in cases of suspected IPF and is unreliable in the diagnosis of rare lung disease (other than
TBLB is not recommended as the initial biopsy option in cases of suspected IPF and is unreliable in the diagnosis of rare lung disease (other than PAP) BAL is not required as a diagnostic tool in patients
More informationNational Horizon Scanning Centre. Oral and inhaled treprostinil for pulmonary arterial hypertension: NYHA class III. April 2008
Oral and inhaled treprostinil for pulmonary arterial hypertension: NYHA class April 2008 This technology summary is based on information available at the time of research and a limited literature search.
More informationCorporate Update January 2018
Corporate Update January 2018 Tenax Strategic Update Specialty pharmaceutical company focused on search, development, and commercialization of drugs that address diseases with high unmet medical need Shift
More informationNational Horizon Scanning Centre. Tadalafil for pulmonary arterial hypertension. October 2007
Tadalafil for pulmonary arterial hypertension October 2007 This technology summary is based on information available at the time of research and a limited literature search. It is not intended to be a
More informationSupplementary Document
Supplementary Document 1. Supplementary Table legends 2. Supplementary Figure legends 3. Supplementary Tables 4. Supplementary Figures 5. Supplementary References 1. Supplementary Table legends Suppl.
More informationSinus venosus atrial septal defect in a 31- year-old female patient: a case for surgical repair
Eur Respir Rev 2010; 19: 118, 340 344 DOI: 10.1183/09059180.00007610 CopyrightßERS 2010 CASE REPORT Sinus venosus atrial septal defect in a 31- year-old female patient: a case for surgical repair M.A.
More informationBosentan for treatment of pulmonary arterial hypertension (I)
KEY PAPER EVALUATION Bosentan for treatment of pulmonary arterial hypertension (I) Sabina A Antoniu University of Medicine and Pharmacy, Clinic of Pulmonary Disease, 62 Costache Negri St, Bl.C2, Sc.A,
More informationEffective Health Care Program
Comparative Effectiveness Review Number 117 Effective Health Care Program Pulmonary Arterial Hypertension: Screening, Management, and Treatment Executive Summary Background Epidemiology and Etiology of
More informationSeverely reduced diffusion capacity in idiopathic pulmonary arterial hypertension: patient characteristics and treatment responses
ORIGINAL ARTICLE PULMONARY VASCULAR DISEASES Severely reduced diffusion capacity in idiopathic pulmonary arterial hypertension: patient characteristics and treatment responses Pia Trip 1, Esther J. Nossent
More informationPVDOMICS. Study Introduction. Kristin Highland, MD Gerald Beck, PhD. NHLBI Pulmonary Vascular Disease Phenomics Program
PVDOMICS Study Introduction Kristin Highland, MD Gerald Beck, PhD NHLBI Pulmonary Vascular Disease Phenomics Program Funded by the National Heart, Lung, and Blood Institute of the National Institutes of
More informationNature Genetics: doi: /ng Supplementary Figure 1. TNFAIP3-associated haplotypes in family 1.
Supplementary Figure 1 TNFAIP3-associated haplotypes in family 1. The p.leu227* mutation (shown as a star) arose de novo in the first affected member of the family (P1). Red haplotypes carry the TNFAIP3
More informationClinical implication of exercise pulmonary hypertension: when should we measure it?
Clinical implication of exercise pulmonary hypertension: when should we measure it? Jang-Young, Kim Wonju College of Medicine, Yonsei Univ. Exercise pulmonary hypertension (EPH) Introduction of pulmonary
More informationPulmonary Hypertension For Cardiologists. Eric Adler MD
Pulmonary Hypertension For Cardiologists Eric Adler MD Case 71 year old female with h/o morbid obesity, pulmonary hypertension on home O2, HFpEF, hypothyroidism, mild aortic stenosis and Afib. Admitted
More information: A Study Examining the Prevalence of Transthyretin Mutations in Subjects Suspected of Having Cardiac Amyloidosis
: A Study Examining the Prevalence of Transthyretin Mutations in Subjects Suspected of Having Cardiac Amyloidosis 02 November 2015 1 Background and Rationale Cardiac amyloidosis is caused by extracellular
More informationCOMMITTEE FOR MEDICINAL PRODUCTS FOR HUMAN USE (CHMP) DRAFT
European Medicines Agency London, 18 December 2008 Doc. Ref. EMEA/CHMP/EWP/356954/2008 COMMITTEE FOR MEDICINAL PRODUCTS FOR HUMAN USE (CHMP) DRAFT CHMP GUIDELINE ON THE CLINICAL INVESTIGATIONS OF MEDICINAL
More informationCombination therapy in the treatment of pulmonary arterial hypertension 2015 update
Journal of Rare Cardiovascular Diseases 2015; 2 (4): 103 107 www.jrcd.eu REVIEW ARTICLE Rare diseases of pulmonary circulation Combination therapy in the treatment of pulmonary arterial hypertension 2015
More informationSafety and Efficacy of Epoprostenol Therapy in Pulmonary Veno-Occlusive Disease and Pulmonary Capillary Hemangiomatosis
Circulation Journal Official Journal of the Japanese Circulation Society http://www.j-circ.or.jp ORIGINAL ARTICLE Pulmonary Circulation Safety and Efficacy of Epoprostenol Therapy in Pulmonary Veno-Occlusive
More informationThe REDUCE LAP Heart Failure Trial. David M Kaye MD, PhD on behalf of the REDUCE LAP HF Investigators
Transcatheter Intracardiac Shunt Device Provides Sustained Clinical Benefit at One Year in Heart Failure with Preserved or Mildly Reduced Ejection Fraction: The REDUCE LAP Heart Failure Trial David M Kaye
More informationManagement of Pulmonary Arterial Hypertension: Evolution in Management
Management of Pulmonary Arterial Hypertension: Evolution in Management Stephen C. Mathai, MD MHS The Johns Hopkins Pulmonary Hypertension Program Assistant Professor of Medicine Johns Hopkins University
More information