526 ALAGILLE SYNDROME, A CASE REPORT
نویسندگان
چکیده
Abstract Alagille syndrome (AGS) is a dominantly inherited multisystem disorder caused by heterozygous mutations of genes that are components the Notch signaling pathway. The main clinical manifestations AGS intrahepatic bile duct paucity, congenital heart defects involving primarily pulmonary arteries, butterfly vertebrae, anterior chamber eye and facial dysmorphism. A male patient 39 years old came to our observation due worsening dyspnea, cyanosis, dizziness, heartbeat asthenia for about two years. His cardiological history includes percutaneous artery angioplasty in both left right 1994. In 2012, finding hypertension diagnosis confirmed genetic analysis (JAG1 gene), vasoreactivity testing circulation was positive. Intrastent restenosis lobar treated with POBA 2016. Patient therapy includes, diltiazem 60 mg OD, macitentan 10 sildenafil 40 TID. Echocardiogram showed: preserved global segmental systolic function. Minimal mitral valve insufficiency. Dilated ventricle (RV / LV> 1), ipokinetic. Right atrium increased size. Mild tricuspid insufficiency (VD-AD 20 mmHg). reduced flow acceleration time (80 msec). Inferior vena cava normal caliber inspiratory collapse. Indirect signs hypertension. six minutes walking test showed severe desaturation after only one hundred meters. catheterization (PAPm 63 blood gas oxygen saturation 83% artery. Angiography arteries intrastent on fracture stent For which performed implantation After procedure there immediate reduction mean arterial pressure (53 mmHg), progressive improvement 02 (88% at discharge) while echocardiogram results unchanged except increasing (100 gradient trans-stenosis 96 mmHg. We we saw drop (63 mmHg) raise Conclusion, this particular population patients even if maximal therapy, symptoms should opinion be an indication cardiac angiography arteries.
منابع مشابه
Oral findings in Alagille syndrome. A case report.
OBJECTIVE To highlight the role of dental practitioners in the management of children with liver diseases. CLINICAL PRESENTATION A 13-year-old girl with Alagille syndrome presented with oral manifestation of end-stage liver disease that needed liver transplant. The dentition showed hypoplastic lesions and severe discoloration. The gingiva was inflamed and edematous due to poor oral hygiene an...
متن کاملSheehan Syndrome: A Case Report
'rwo cases of post-partum amenorrhea with other clinical signs of She1ehan syndrom was studied at the Loghmandoleh Medical Center, National University of Iran. Clinical diagnosis was confirmed by appropriate laboratory work -up in the f.irSlt case and the patient was placed on the conventional end orga.n hormon substitutional therapy (Thyroid -Gonad -Adrenal) and was discharged in good cond...
متن کاملPendred Syndrome: A Case Report
In this article Pendred's syndrome, which is the combination of - congenital goitre with deafmutism, is discussed. This type of goitre is due to a special enzymatic defect, involving a process of hormonogenesis, which is respon-· sible for the incorporation of iodide in the tyrosine molecule. A case of pendred's syndrome is presented in a 16-year-old girl. This girl has never been able to...
متن کاملApert Syndrome: A Case Report
Apert syndrome is a genetic defect which was first described by Eugene Apert in 1906. itchr('39')s incidence is approximately one in 50000 births. This syndrome is many abnormalities in your body and Central Nervous System. rehabilitation can increase children and their parentchr('39')s quality of life.We report a case of Apert syndrome and his occupational therapy program.
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: European Heart Journal Supplements
سال: 2022
ISSN: ['1520-765X', '1554-2815']
DOI: https://doi.org/10.1093/eurheartjsupp/suac121.353