Abstract
Over 2000 genotypes in the cystic fibrosis (CF) gene have been described. These genotypic differences result in variable clinical manifestations of CF, with severity of disease dependent on CF transmembrane conductance (CFTR) protein function. CFTR is widely distributed in nucleated cells, including cardiac myocytes, but the effect of genotype on cardiac function is not known. This retrospective review of echocardiographic data is from a single adult CF centre between 2000 and 2015. Patients were cohorted based on the functional classification of genotype. 'Severe' patients had both CF genes from functional classification groups 1-3; 'mild' patients had one or no gene from these groups, or in the event of the second gene being unknown were pancreatic sufficient. Genotype and echocardiography were recorded during the inclusion period in 100 patients, 79 of whom were classified as having severe genotypes. Although the severe group were younger they had a lower fractional shortening (33.66 ± 6.6 vs 36.9 ± 6.3, P < .05), left atrial area (14.9 ± 3.6 versus 18.0 ± 4.2 cm2; P < .01) and volume (39.9 ± 18.7 versus 51.0 ± 18.7 mL; P < .05) and showed a trend to lower left ventricular ejection fraction. This study is the first to show t...Continue Reading
References
Oct 23, 1997·Chest·K Wasserman
Apr 24, 2001·American Journal of Respiratory and Critical Care Medicine·A A IonescuD J Shale
May 28, 2003·Lancet·Edward F McKoneMoira L Aitken
Aug 9, 2003·Chest·Anne E HollandMatthew T Naughton
Feb 7, 2006·European Journal of Echocardiography : the Journal of the Working Group on Echocardiography of the European Society of Cardiology·Roberto M LangUNKNOWN European Association of Echocardiography, European Society of Cardiology
Nov 14, 2006·Chest·Edward F McKoneMoira L Aitken
Apr 9, 2008·Naunyn-Schmiedeberg's Archives of Pharmacology·Thomas F SolbachMartin F Fromm
Aug 29, 2009·Internal Medicine Journal·I SzollosiM T Naughton
Feb 13, 2010·The Canadian Journal of Cardiology·David W J ArmstrongMurray F Matangi
May 6, 2010·The Journal of Physiology·Zachary M SellersPhilip M Best
Feb 19, 2011·Clinical Journal of the American Society of Nephrology : CJASN·Rajiv AgarwalAshok Garg
Jul 19, 2011·Journal of the American Society of Echocardiography : Official Publication of the American Society of Echocardiography·Fabien LabombardaEric Saloux
Jul 14, 2012·Expert Review of Respiratory Medicine·Sarah Rand, S Ammani Prasad
Jan 24, 2014·European Heart Journal Cardiovascular Imaging·Seisyou KouPatrizio Lancellotti
Nov 15, 2014·Expert Review of Respiratory Medicine·Craig A WilliamsAlan R Barker
Jan 7, 2015·Journal of the American Society of Echocardiography : Official Publication of the American Society of Echocardiography·Roberto M LangJens-Uwe Voigt
Apr 14, 2015·Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society·Zachary M SellersAndrea Brasch
Jun 30, 2015·Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society·Kai JiangXin Yu
Sep 6, 2015·Respiratory Research·Erik H Van ItersonEric M Snyder
Apr 6, 2016·Heart & Lung : the Journal of Critical Care·Erik H Van ItersonEric M Snyder
May 4, 2016·Lancet·J Stuart Elborn
Mar 21, 2017·Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society·Zahra N Sayyid, Zachary M Sellers
Jun 15, 2017·Clinical Science·Deirdre EdgeworthJohn Wilson
Nov 28, 2017·Critical Care : the Official Journal of the Critical Care Forum·Stephen J HuangAnthony S McLean
Citations
Feb 15, 2019·APMIS : Acta Pathologica, Microbiologica, Et Immunologica Scandinavica·Marianne SkovTacjana Pressler
Oct 3, 2020·Journal of the American Heart Association·Xuan JiangPradeep P A Mammen
Mar 7, 2020·The European Respiratory Journal·Catherine RangTom Kotsimbos
May 1, 2021·The European Respiratory Journal·Hélène Le RibeuzFabrice Antigny
Nov 27, 2021·The European Respiratory Journal·Tom KotsimbosDominic Keating