Marfan syndrome: what internists and pediatric or adult cardiologists need to know

Expert Review of Cardiovascular Therapy
Harald KaemmererJohn Hess

Abstract

Marfan syndrome (MFS) is one of the most frequent connective tissue disorders, showing striking pleiotropism and clinical variability. There is autosomal dominant inheritance with complete penetrance but variable expression. Approximately 25% of MFS patients have no family history of the syndrome and represent sporadic cases due to new mutations. This hazardous condition is often associated with premature cardiovascular death unless surveillance and management are optimized. The fibrillin gene (FBN1) encodes the structure of the connective tissue protein fibrillin. MFS is caused by mutations in the fibrillin gene, located on chromosome 15 at locus 15q21. Fibrillin abnormalities reduce the structural integrity of different body systems, primarily involving the heart valves, blood vessels, lungs, bones, tendons, ligaments, cartilages, eyes, skin, spinal dura and the CNS. Patients with MFS are likely to have too little fibrillin within these structures, resulting in clinically relevant problems. For example, in the aortic wall, deficient fibrillin may trigger progressive aortic ectasia and may result in aortic dissection.

References

Sep 1, 1975·The American Journal of Cardiology·A E Becker, J P van Mantgem
Dec 1, 1991·European Heart Journal·G SütschM Turina
Jul 1, 1991·Journal of the American College of Cardiology·K HirataH Boudoulas
Aug 15, 1989·Annals of Internal Medicine·R B DevereuxP Kligfield
Sep 1, 1989·The American Journal of Cardiology·M J RomanJ O'Loughlin
Apr 1, 1989·Circulation·F C YinR E Pyeritz
Mar 1, 1985·The American Journal of Cardiology·S D LimaJ L Weiss
Dec 1, 1988·Journal of Pediatric Surgery·L R SchererJ A Haller
Mar 1, 1988·American Journal of Medical Genetics·P BeightonV A McKusick
Sep 1, 1987·Archives of Disease in Childhood·N MarlowS A Qureshi
Dec 1, 1986·The Journal of Cell Biology·L Y SakaiE Engvall
Aug 1, 1987·Radiology·J E KuhlmanS S Siegelman
Dec 1, 1974·British Heart Journal·V R SomanH Mark
Apr 13, 1972·The New England Journal of Medicine·J L MurdochV A McKusick
Jul 1, 1968·Thorax·H Bentall, A De Bono
Jun 1, 1984·The Annals of Thoracic Surgery·J R HallJ A Haller
Aug 1, 1983·The American Journal of Cardiology·H E SiskR E Pyeritz
Nov 1, 1981·The American Journal of Medicine·R E Pyeritz
Nov 1, 1995·American Journal of Obstetrics and Gynecology·J P RossiterR E Pyeritz
Oct 1, 1995·Human Pathology·C BassoG Thiene
Jul 15, 1995·Annals of Internal Medicine·U ElkayamA Mehra
Jun 1, 1995·The Journal of Bone and Joint Surgery. American Volume·P D SponsellerR E Pyeritz
Jan 15, 1995·The American Journal of Cardiology·D I SilvermanP Tsipouras
Sep 1, 1994·Journal of Cardiac Surgery·V L GottV A McKusick
May 1, 1994·European Heart Journal·A SavolainenM Kupari
Jan 1, 1994·Journal of Cardiac Surgery·V T TsangR B Mee
May 15, 1994·American Journal of Ophthalmology·N J IzquierdoI H Maumenee
Nov 1, 1993·Journal of the American College of Cardiology·M J RomanR B Devereux
Mar 1, 1993·The American Journal of Cardiology·C M ReedB S Alpert
Apr 24, 1996·American Journal of Medical Genetics·A De PaepeR E Pyeritz
Mar 29, 1996·American Journal of Medical Genetics·E A PutnamD M Milewicz
Jan 1, 1997·American Heart Journal·A HaouziR J Siegel
Feb 1, 1997·British Journal of Obstetrics and Gynaecology·K J LipscombR Harris
May 1, 1997·Spine·W R HobbsR E Pyeritz
Oct 31, 1997·Journal of Pediatric Orthopedics. Part B·P D SponsellerR E Pyertiz
Feb 21, 1998·Nucleic Acids Research·G Collod-BéroudC Boileau
Feb 18, 1998·Deutsche medizinische Wochenschrift·Y von KodolitschC A Nienaber
May 20, 1998·Zeitschrift für Kardiologie·Y von KodolitschC A Nienaber

❮ Previous
Next ❯

Citations

Mar 15, 2008·Clinical Research in Cardiology : Official Journal of the German Cardiac Society·A A SchmaltzUNKNOWN Deutsch-Osterreichisch-Schweizerischen Kardiologischen Fachgesselschaften
Jun 29, 2012·The British Journal of Radiology·P J Kilner
Oct 22, 2011·Progress in Cardiovascular Diseases·Philip J Kilner
Jul 30, 2011·The American Journal of Medicine·Siegrun MebusNorbert Mayr
Feb 11, 2016·World Journal of Clinical Pediatrics·Frances M MitchellClaire E Raphael
Feb 24, 2007·Pathology International·Sohtaro MimasakaMasato Funayama

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.