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Case Reports
. 2019 Jul 11;54(2):119-124.
doi: 10.5152/TurkPediatriArs.2018.4658. eCollection 2019.

Giant aortic aneurysm due to fibulin- 4 deficiency: case series

Ayşe Sülü  1 , Osman Başpınar  1 , Derya Aydın Şahin  2
Affiliations
Case Reports

Giant aortic aneurysm due to fibulin- 4 deficiency: case series

Ayşe Sülü et al. Turk Pediatri Ars. .

Abstract
in English, Spanish

Cutis laxa tip1b is a rare autosomal recessive disorder caused by FBLN 4 mutation and primarily characterized by vascular anomalies. Herein, we present five patients who are the members of the same family. The primary cardiac findings of these patients were giant aortic aneurysms. One 2.5-year-old patient with a massive aneurysm of the ascending aorta died as a result of compression to the heart chambers, trachea, and bronchi. The bentall procedure was performed in three of our patients who are under follow-up. One patient is still under clinical follow-up without surgery. After the diagnosis of the first patient, a genetic study was performed in which FBLN 4 mutations were investigated. Four new patients were detected during genetic screening of the family. Other 29 family members were screened bur were negative in physical examinations and echocardiography. Pedigree is important for early diagnosis of genetic diseases in asymptomatic individuals.

“Cutis laxa” tip1B ender görülen FBLN 4 mutasyonunun neden olduğu, ön planda damar anomalileri ile seyreden otozomal çekinik bir hastalıktır. Burada aynı ailenin üyesi olan beş olgumuzu sunduk. Olgularımızın asıl kalp bulgusu çıkan aort anevrizması idi. Bir olgumuz 2,5 yaşında çıkan aorttaki dev anevrizmanın trakea, bronşlar ve kalp odacıklarına basısı nedeni ile kaybedildi. Üç olgumuza Bentall operasyonu yapıldı ve izlemleri devam etmektedir. Bir olgumuz halen klinik olarak izlemdedir. İlk olgunun tanı almasından sonra genetik çalışması yapıldı ve FBLN 4 mutasyonu saptandı. Aile taraması sırasında belirtisiz dört olgu daha saptandı. Yoğun akraba evliliklerinin olduğu ailenin taranabilen 29 üyesinde fizik bakı ve ekokardiyografik incelemelerde sorun saptanmadı. Aile ağacının çıkarılması, belirtisi olmayan bireylerde genetik hastalıkların erken tanısı açısından önemlidir.

Keywords: Aneurysm of the ascending aorta; FBLN 4 mutation; cutis laxa type 1B.

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Conflict of interest statement

Conflict of Interest: No conflict of interest was declared by the authors.

Figures

Figure 1
Figure 1
(a) Three-dimensional CT angiography revealing aneurysmatic dilatation in the ascending aorta and tortuosity in the aorta in the first patient, (*) ascending aorta aneurysm. (b) CT section revealing ascending aorta aneurysm in the first patient. (*) ascending aorta aneurysm
Figure 2
Figure 2
Pedigree showing excessive consanguineous marriages, black arrow (V-1): Index patient, V-2: patient who was followed up in another external center, V-8: Patient 2, IV-3: Patient 3, IV-4: Patient 4, V-6: Patient 5
Figure 3
Figure 3
Three-dimensional CT angiography revealing aneurysmatic dilatation in the ascending aorta and tortuosity related to the second patient, (*) ascending aorta aneurysm
Figure 4
Figure 4
Picture belonging to the third patient showing hypertelorism, prominent forehead and eyes, long philtrum and flattened face
Figure 5
Figure 5
Echocardiographic appearance belonging to the fifth patient showing ascending aorta dilatation
See this image and copyright information in PMC

References

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