Features of Marfan syndrome not listed in the Ghent nosology – the dark side of the disease

ABSTRACT

Introduction: The revised Ghent nosology presents the classical features of Marfan syndrome. However, behind its familiar face, Marfan syndrome hides less well-known features.

Areas covered: The German Marfan Organization listed unusual symptoms and clinical experts reviewed the literature on clinical features of Marfan syndrome not listed in the Ghent nosology. Thereby we identified the following features: (1) bicuspid aortic valve, mitral valve prolapse, pulmonary valve prolapse, tricuspid valve prolapse, (2) heart failure and cardiomyopathy, (3) supraventricular arrhythmia, ventricular arrhythmia, and abnormal repolarization, (4) spontaneous coronary artery dissection, anomalous coronary arteries, and atherosclerotic coronary artery disease, tortuosity-, aneurysm-, and dissection of large and medium-sized arteries, (5) restrictive lung disease, parenchymal lung disease, and airway disorders, (6) obstructive- and central sleep apnea, (7) liver and kidney cysts, biliary tract disease, diaphragmatic hernia, and adiposity, (8) premature labor, and urinary incontinence, (9) myopathy, reduced bone mineral density, and craniofacial manifestations, (10) atrophic scars, (11) caries, and craniomandibular dysfunction, (12) headache from migraine and spontaneous cerebrospinal fluid leakage, (13) cognitive dysfunction, schizophrenia, depression, fatigue, and pain, (14) and activated fibrinolysis, thrombin, platelets, acquired von Willebrand disease, and platelet dysfunction.

Expert commentary: Future research, nosologies, and guidelines may consider less well-known features of Marfan syndrome.

KEYWORDS:

• Marfan syndrome
• FBN1
• Ghent nosology
• manifestations
• mitral valve
• aortic valve
• myocardium
• vascular
• arrhythmia
• lung
• sleep
• adiposity
• urogenital
• muscle
• skeleton
• dental
• psychology
• hemostasis

Article highlights

We performed a review of clinical features of the Marfan syndrome that are not listed in the Ghent nosology. This review yielded the following major results:

• Patients report symptoms and complaints that experts may not have in their focus of study and research.

• Bicuspid aortic valve, aneurysm of the cerebral arteries, cognitive dysfunction, and schizophrenia may be removed from the list of potential manifestations of the Marfan syndrome.

• Tricuspid valve prolapse, cardiomyopathy, sleep apnea, vascular disease of the aortic branching vessels, and liver and kidney cysts emerge as manifestations of the Marfan syndrome.

• Heart failure, supraventricular and ventricular arrhythmia, restrictive lung disease, headache, fatigue, and chronic pain are features that complicate the natural or medical course of Marfan syndrome.

• The image of Marfan syndrome as a whole is in transition from a monogenetic disease of isolated organ system involvement (‘multi-systemic’) of the young and slender to a multifactorial generalized atherosclerotic and degenerative (‘generalized’) disease of the older and obese.

Declaration of interest

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Reviewer disclosures

Peer reviewers on this manuscript have no relevant financial or other relationships to disclose.

Supplementary material

Supplemental data for this article can be accessed here.

Additional information

Funding

This paper was not funded.