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Marfan Syndrome, Giant Ascending Aortic Aneurysm, and Left Ventricular Noncompaction: The Heart in Jeopardy!
Najlaa Belharty1, Selma Siagh1, Tanae El Ghali1
1Department of Cardiology B, Ibn Sina Hospital, Mohammed V University, Rabat, MAR.
Abstract:
Marfan syndrome (MFS) is a heritable connective tissue disorder that is caused by a mutation of the FBN1 gene. It is characterized by cardiovascular, skeletal, and ocular manifestations, with thoracic aortic aneurysms being the main cardiovascular complication. Unconventionally, MFS can present with left ventricular noncompaction (LVNC), which introduces a supplementary aspect of cardiac dysfunction. We herein report the case of a 42-year-old male with MFS who presented with congestive heart failure and cardiogenic shock. His transthoracic echocardiography revealed a giant aortic root aneurysm, causing severe aortic regurgitation and dilated cardiomyopathy, along with LVNC. This case provides a brief overview of this rare medical condition, particularly the natural history of ascending thoracic aortic aneurysm, which is considered a silent complication and the most life-threatening one, combined with LVNC that correspondingly impairs the heart.
Insights
Marfan syndrome (MFS), a genetic disorder, can unusually present with left ventricular noncompaction (LVNC). This case highlights the severe cardiac complications of MFS, including aortic aneurysms and LVNC.
Area of Science:
- Cardiology
- Genetics
- Connective Tissue Disorders
Background:
- Marfan syndrome (MFS) is a heritable connective tissue disorder caused by FBN1 gene mutations.
- Cardiovascular complications, particularly thoracic aortic aneurysms, are primary concerns in MFS.
- Left ventricular noncompaction (LVNC) is an uncommon but significant cardiac manifestation in MFS.
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