Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations

The American Journal of Cardiology
Manuel Hermida-PrietoMarisa Crespo-Leiro

Abstract

LMNA mutations have been associated with familial or sporadic dilated cardiomyopathy (DC), with or without conduction system disease. We studied the LMNA gene in 67 consecutive patients with DC (18 had familial DC, 17 had possible familial DC, and 32 sporadic DC). From genomic DNA, coding regions of the LMNA gene were amplified by polymerase chain reaction, studied by single-strand conformation polymorphism, and cycle sequenced. Mutations were confirmed by restriction fragment length polymorphism. Two disease-causing mutations were found in families A and B. In family A, a novel R349L mutation was present in the mother and her identical twin daughters. They required cardiac transplantation at 36, 18, and 20 years of age. In family B, the R190W mutation was present in 2 cousins with DC and without conduction system disease (1 had cardiac transplantation at 45 years of age and 1 died suddenly at 46 years of age) and in 2 of their sons. The mothers of the 2 affected patients died due to cardiac causes in their 40s (1 died suddenly). One of the carriers fulfilled diagnostic criteria for isolated left ventricular noncompaction. Our data associated the R349L and R190W mutations in LMNA with severe forms of familial DC. LMNA mutations...Continue Reading

References

Oct 23, 1997·American Journal of Human Genetics·S B BleylK Ward
Jan 13, 1998·Journal of the American College of Cardiology·E GrünigH A Katus
Oct 8, 1999·Journal of the American Society of Echocardiography : Official Publication of the American Society of Echocardiography·Y AgmonJ B Seward
Feb 2, 2000·Nature Genetics·S ShackletonR C Trembath
Sep 12, 2000·Human Mutation·J GenschelH H Schmidt
Jan 4, 2001·Pacing and Clinical Electrophysiology : PACE·H M BécaneD Duboc
Sep 19, 2001·Journal of Cardiac Failure·P M JakobsR E Hershberger
Feb 19, 2002·Laboratory Investigation; a Journal of Technical Methods and Pathology·Eduardo ZambranoPei Hui
Mar 19, 2002·Journal of the American College of Cardiology·Eloisa ArbustiniLuigi Tavazzi
Jun 21, 2002·American Journal of Human Genetics·Giuseppe NovelliGisèle Bonne
Jul 13, 2002·Revista española de cardiología·Lorenzo MonserratAlfonso Castro-Beiras
Dec 7, 2002·Molecular Genetics and Metabolism·Rui ChenUNKNOWN Noncompaction study collaborators
Mar 12, 2003·Journal of the American College of Cardiology·Matthew R G TaylorUNKNOWN Familial Dilated Cardiomyopathy Registry Research Group
Dec 10, 2003·Journal of the American College of Cardiology·Matteo VattaJeffrey A Towbin

❮ Previous
Next ❯

Citations

Aug 13, 2011·American Journal of Medical Genetics. Part a·Joshua J BlinderJohn L Jefferies
Oct 25, 2013·Wiener medizinische Wochenschrift·Josef Finsterer, Claudia Stöllberger
Jul 15, 2005·Cardiology in the Young·Robert M FreedomRobert H Anderson
Feb 27, 2007·Cardiology in the Young·Ross A BreckenridgePerry M Elliott
Jan 15, 2013·Nature Medicine·Guillermo LuxánJosé Luis de la Pompa
Dec 27, 2011·European Heart Journal·Giovanni QuartaPerry M Elliott
May 18, 2010·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Rebekah S ZimmermanBirgit H Funke
Nov 21, 2007·Current Opinion in Pediatrics·Michael V ZaragozaJagat Narula
Jun 10, 2010·Southern Medical Journal·Sravanthi Nagavalli, James L Vacek
Nov 13, 2004·Cardiology·Klaus PethigHartmut H-J Schmidt
Dec 23, 2008·Cardiovascular Ultrasound·Maria Giovanna ColomboMaria Grazia Andreassi
Sep 6, 2008·Circulation Journal : Official Journal of the Japanese Circulation Society·Akinori Kimura
Dec 6, 2008·Circulation Journal : Official Journal of the Japanese Circulation Society·Fukiko Ichida
Aug 20, 2010·Cardiology Research and Practice·Indrani S BhattacharyaMark Francis
Apr 1, 2009·Radiology·Claudia StöllbergerKeijo J Peuhkurinen
Jun 16, 2012·European Journal of Endocrinology·Patricia B MoryRegina S Moisés
Jan 27, 2009·The British Journal of Radiology·F P JunqueiraR C Domingues
Aug 4, 2011·European Heart Journal·Daniel Jacoby, William J McKenna
Feb 26, 2013·Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology·Josef FinstererKarim Wahbi
Mar 17, 2012·European Journal of Medical Genetics·O CampuzanoR Brugada
Oct 23, 2010·Molecular Genetics and Metabolism·Bo ChangUNKNOWN Noncompaction study collaborators
Nov 26, 2009·Forensic Science International : Synergy·R B Dettmeyer, R Kandolf
Apr 20, 2007·International Journal of Cardiology·Xusto FernándezAlfonso Castro-Beiras
Aug 12, 2009·Congenital Heart Disease·Carline KohYiu-Fai Cheung
Sep 13, 2006·Clinical Genetics·J Rankin, S Ellard
May 15, 2013·American Journal of Medical Genetics. Part a·Megan S KaneSusan Michaelis
Jun 26, 2015·Pediatric Cardiology·Teck Wah TingAngeline Hwei Meeng Lai
Apr 29, 2006·American Heart Journal·Mark T JohnsonBrian D Hoit
Apr 25, 2006·Biochemical and Biophysical Research Communications·Hu WangRutai Hui
Dec 21, 2005·International Journal of Cardiology·Josef FinstererGerhard Blazek
Dec 3, 2014·Journal of the American College of Cardiology·Pablo Garcia-Pavia, José Luis de la Pompa
Mar 30, 2010·Heart Failure Clinics·Diane FatkinZara Richmond
Aug 26, 2014·Journal of the American College of Cardiology·Annalisa MilanoConnie R Bezzina
Aug 26, 2014·Journal of the American College of Cardiology·Patrick A SchweizerDierk Thomas
Apr 26, 2016·International Journal of Cardiology·Josef FinstererMartin Gencik
Jul 17, 2015·Journal of Human Genetics·Akinori Kimura

❮ 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.

Cardiovascular Diseases: Risk Factors

Cardiovascular disease is a significant health concern. Risk factors include hypertension, obesity, dyslipidemia and smoking. Women who are postmenopausal are at an increased risk of heart disease. Here is the latest research for risk factors of cardiovascular disease.

Cardiac Conduction System

The cardiac conduction system is a specialized tract of myocardial cells responsible for maintaining normal cardiac rhythm. Discover the latest research on the cardiac conduction system here.