Vacation can be so blissful! But, sometimes, that “EM mind” just won’t turn off. Have you, like a thirsty vampire, ever glanced at someone’s neck and admired the large external jugular veins? Do you pack your extra supply of suture material along with your bathing suit, just in case? When you drive by the vacation spot’s local hospital, do you wonder what their resources are? Well, if these things seem normal to you, then you, like me, are… slightly disturbed… and totally wed to being an emergency provider. Recently, I while floating on the lazy river, I saw a child who had obvious Marfan Syndrome features and my mind quickly sorted through some of the emergent conditions I should prepare myself to consider … again, … just in case. So let’s quickly review what my mind came up with for Marfan Syndrome.
Marfan Syndrome: Basics
Marfan Syndrome is a disorder of the connective tissue.
It is inherited in a AUTOSOMAL DOMINANT fashion.
Frequency is at least 1 in 5,000 in the USA.
~ 1/4th of cases are due to spontaneous genetic mutation.
There is no gender or ethnic preference or distinction.
Effected protein = Fibrillin-1
Important to the structure of connective tissue.
Involved in connective tissue throughout the body.
Normal fibrillin thought to inhibit growth of long bones and elastic fibers.
Marfan Syndrome: Clinical Features
Variance in the expression of the condition exists.
Not all patients will be affected the same.
Features may be present at birth or develop later.
May be diagnosed in adulthood.
Patients diagnosed earlier appear to have better clinical courses than those diagnosed later in life. [Willis, 2009]
Some of the clinical features are: [Kaemmerer, 2005;Pediatrics, 1996; Marfan.org]
Skeletal
Pecuts excavatum or Pecuts carinatum
Arm span:Height ratio >1.05
Thumb sign
Able to extend thumb beyond ulnar border of the hand when hand is flexed.
Wrist sign
Able to overlap the distal tips of the thumb and index finger when wrapped around contralateral wrist.
Scoliosis >20 degrees
Reduced extension of the elbows (<170 degrees)
High arched palate with crowding of the teeth
Cardiovascular
Aortic aneurysm
~50-83% of kids with Marfan syndrome have dilation of the aortic root. [van Karnebeek, 2001]
Mitral valve prolapse
Diagnosed at a mean age of 9.7 years. [van Karnebeek, 2001]
Dilation of the main pulmonary artery
Calcification of the mitral annulus in patients < 40 years of age
Neonatal Marfans Syndrome presents with rapidly progressive and potentially fatal cardiovascular complications.
Ocular
Severe nearsightedness
Early glaucoma / cataracts
Flat cornea
Pulmonary
Apical blebs
Asthma / reactive airway disease
Nervous
Lumbosacral dural ectasia
Gastrointestinal
May develop colonic diverticula at early age. [Santin, 2009]
Dermatologic
Stretch marks (striae)
Marfan Syndrome: The Emergencies
Aortic dissection
Obviously, this is the most feared and greatest concern!
Fibrillin-1 is primarily expressed in the ascending aorta.
Dissections typically in the second decade of life.
There are other conditions that may require emergent evaluation and treatment:
Pneumothorax
Occurs in ~5% of patients
Cor Pulmonale
May develop due to severe and progressive chest wall deformities and scoliosis leading to mechanical restrictions.
Dislocation of the lens of the eye
~50-80% of cases have lens dislocation.
Often the ophthalmologist may be the first to make the diagnosis.
Retinal detachment
Occurs in ~16% of cases.
Moral of the Morsel
Marfan syndrome affects many organ systems (not just aorta and bones).
The patient with Marfan syndrome who is dyspneic may be sort of breath due to a variety of issues including reactive airway disease and mechanical issues, but don’t overlook pneumothorax!
When your on vacation… close your eyes… otherwise you may start quizzing yourself on medical facts related to passersby’s pathology. 🙂
References
Singh MN1, Lacro RV2. Recent Clinical Drug Trials Evidence in Marfan Syndrome and Clinical Implications. Can J Cardiol. 2016 Jan;32(1):66-77. PMID: 26724512. [PubMed] [Read by QxMD]
Marfan syndrome is a genetic disorder of connective tissue with principal manifestations in the cardiovascular, ocular, and skeletal systems. Cardiovascular disease, mainly progressive aortic root dilation and aortic dissection, is the leading cause of morbidity and mortality. The primary aims of this report were to examine the evidence related to medical therapy for Marfan syndrome, including recently completed randomized clinical trials on the […]
Ekhomu O1, Naheed ZJ. Aortic Involvement in Pediatric Marfan syndrome: A Review. Pediatr Cardiol. 2015 Jun;36(5):887-95. PMID: 25669767. [PubMed] [Read by QxMD]
Outlining specific protocols for the management of pediatric patients with Marfan syndrome has been challenging. This is mostly due to a dearth of clinical studies performed in pediatric patients. In Marfan syndrome, the major sources of morbidity and mortality relate to the cardiovascular system. In this review, we focus on aortic involvement seen in pediatric patients with Marfan syndrome, ranging from aortic dilatation to aortic rupture and he […]
Miraldi Utz V1, Coussa RG2, Traboulsi EI3. Surgical management of lens subluxation in Marfan syndrome. J AAPOS. 2014 Apr;18(2):140-6. PMID: 24698610. [PubMed] [Read by QxMD]
To review the literature on the surgical management, describe a simplified surgical technique, and to report the postoperative clinical course of ectopia lentis removal in patients with Marfan syndrome. […]
Hofmann LJ1, Hetz SP. Pediatric bilateral spontaneous pneumothoraces in monozygotic twins. Pediatr Surg Int. 2012 Jul;28(7):745-9. PMID: 22543473. [PubMed] [Read by QxMD]
Primary spontaneous pneumothorax from subpleural bleb disease is an uncommon occurrence in pediatric patients. This is a rare case of monozygotic twins presenting at alternating intervals with a single-sided spontaneous pneumothorax, only to have it surgically corrected, and to present later with a subsequent contralateral pneumothorax. A review of familial spontaneous pneumothoraces occurring in children was queried for congenital or genetic syn […]
Morales-Chávez MC1, Rodríguez-López MV. Dental treatment of Marfan syndrome. With regard to a case. Med Oral Patol Oral Cir Bucal. 2010 Nov 1;15(6):e859-62. PMID: 20711146. [PubMed] [Read by QxMD]
Marfan syndrome (MS) is the most common dominant autosomic genetic disorder of the connective tissue. It has a reported incidence of 1 per each 5000 individuals without any distinction of gender or ethnicity. This pathology’s diagnosis is mainly based on physical characteristics, presenting three main different symptomatic charts: neonatal Marfan, infant Marfan and classical Marfan. The mayor characteristic of these patients consists of an exagge […]
Santin BJ1, Prasad V, Caniano DA. Colonic diverticulitis in adolescents: an index case and associated syndromes. Pediatr Surg Int. 2009 Oct;25(10):901-5. PMID: 19711089. [PubMed] [Read by QxMD]
Diverticular disease of the colon, a common problem among adults, is diagnosed rarely in children. We report an adolescent patient with sigmoid diverticulitis who required operative treatment. Pediatric patients with the complications of diverticula typically have conditions that result in genetic alterations affecting the components of the colonic wall. Our patient had Williams-Beuren syndrome, although Ehlers-Danlos syndrome, Marfan syndrome, a […]
Kaemmerer H1, Oechslin E, Seidel H, Neuhann T, Neuhann IM, Mayer HM, Hess J. Marfan syndrome: what internists and pediatric or adult cardiologists need to know. Expert Rev Cardiovasc Ther. 2005 Sep;3(5):891-909. PMID: 16181034. [PubMed] [Read by QxMD]
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 […]
[No authors listed] Health supervision for children with Marfan syndrome. American Academy of Pediatrics Committee on Genetics. Pediatrics. 1996 Nov;98(5):978-82. PMID: 8909500. [PubMed] [Read by QxMD]
This set of guidelines is designed to assist the pediatrician in caring for children with Marfan syndrome confirmed by clinical criteria. Although pediatricians usually first see children with Marfan syndrome during infancy, occasionally they will be called on to advise the pregnant woman who has been informed of the prenatal diagnosis of Marfan syndrome. Therefore, these guidelines offer advice for this situation as well. […]
I enjoy taking care of patients and I finding it endlessly rewarding to help train others to do the same. I trained at the Combined Emergency Medicine and Pediatrics residency program at University of Maryland, where I had the tremendous fortune of learning from world renowned educators and clinicians. Now I have the unbelievable honor of working with an unbelievably gifted group of practitioners at Carolinas Medical Center. I strive every day to inspire my residents as much as they inspire me.
I enjoy taking care of patients and I finding it endlessly rewarding to help train others to do the same. I trained at the Combined Emergency Medicine and Pediatrics residency program at University of Maryland, where I had the tremendous fortune of learning from world renowned educators and clinicians. Now I have the unbelievable honor of working with an unbelievably gifted group of practitioners at Carolinas Medical Center. I strive every day to inspire my residents as much as they inspire me.
I saw a 18yo F last week with Marfan Syndrome who came in with chest pain and SOB and I’m not gonna lie I definitely had to look a lot up. Awesome summary. Wish I had it then.
Nick
Thank you, Dr. Sawyer!
Sorry the Morsel was not more timely… perhaps next time.
🙂
-sean
I saw a 18yo F last week with Marfan Syndrome who came in with chest pain and SOB and I’m not gonna lie I definitely had to look a lot up. Awesome summary. Wish I had it then.
Nick
Thank you, Dr. Sawyer!
Sorry the Morsel was not more timely… perhaps next time.
🙂
-sean