Electrocardiography in Noonan syndrome PTPN11 gene mutation--phenotype characterization

American Journal of Medical Genetics. Part a
Ellen A CroonenJos M Th Draaisma

Abstract

Noonan syndrome is a developmental disorder with distinctive facial features, short stature and cardiac abnormalities. In this cross-sectional study, we evaluated characteristic electrocardiographic (ECG) findings and cardiac abnormalities in 84 patients with Noonan syndrome, 56 (67%) of who were positive for a PTPN11 mutation. As reported previously, pulmonary stenosis was the most common cardiac abnormality, followed by atrial septal defect and hypertrophic cardiomyopathy. The ECG showed at least one characteristic finding in 50% of cases including left axis deviation in 38 (45%), small R waves in the left precordial leads in 20 (24%) and an abnormal Q wave in 5 (6%) patients with Noonan syndrome. A wide QRS complex was not detected in any of these patients. The characteristic ECG findings of Noonan syndrome patients were not associated with a PTPN11 gene mutation, or with a (specific) cardiac anomaly. We conclude that there are characteristic ECG findings in Noonan syndrome, but the ECG pattern is neither a useful tool for the phenotype characterization of a PTPN11 mutation, nor for the presence or type of cardiac abnormality.

References

Feb 1, 1992·Archives of Disease in Childhood·M SharlandM A Paton
Aug 1, 1989·International Journal of Cardiology·G Calcaterra, R Puglisi
Apr 1, 1983·European Heart Journal·A Sanchez-Cascos
Nov 1, 1994·American Journal of Medical Genetics·I van der BurgtE Mariman
Nov 18, 2000·Arquivos brasileiros de cardiologia·D R BertolaC H Gonzalez
Mar 6, 2004·The Journal of Pediatrics·Martin ZenkerAnita Rauch
Feb 14, 2006·Nature Genetics·Suzanne SchubbertChristian P Kratz
Dec 5, 2006·Nature Genetics·Amy E RobertsRaju S Kucherlapati

❮ Previous
Next ❯

Citations

Jan 17, 2013·European Journal of Human Genetics : EJHG·Ellen A CroonenHelger G Yntema
Aug 4, 2011·Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology·Michael J AckermanUNKNOWN European Heart Rhythm Association (EHRA)
Feb 19, 2014·Archives of Disease in Childhood·Terence W PrendivilleRonald V Lacro
Jun 20, 2012·Differentiation; Research in Biological Diversity·Laura E BriggsAndy Wessels
Sep 9, 2015·Cardiology in the Young·Benjamin J LandisRobert B Hinton
Jul 21, 2011·Journal of Paediatrics and Child Health·Anne M Turner
Aug 13, 2021·Cardiology in the Young·Eefke VosJos M T Draaisma

❮ Previous
Next ❯

Related Concepts

Related Feeds

Cardiomyopathy

Cardiomyopathy is a disease of the heart muscle, that can lead to muscular or electrical dysfunction of the heart. It is often an irreversible disease that is associated with a poor prognosis. There are different causes and classifications of cardiomyopathies. Here are the latest discoveries pertaining to this disease.

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.