Generalized Arterial Calcification of Infancy Mimicking Coarctation of Aorta in a Neonate

被引：0

作者：

Varghese, Neha A. ^{[1
]}

Gopal, Boobathi R. ^{[1
]}

Maheswaran, Anupama ^{[1
]}

Raju, Vijayakumar ^{[2
]}

Vijayaraghavan, Aparna ^{[3
]}

机构：

[1] G Kuppuswamy Naidu Mem Hosp, Dept Radiol, Netaji Rd, Coimbatore 641037, Tamil Nadu, India

[2] G Kuppuswamy Naidu Mem Hosp, Dept Cardiothorac Surg, Netaji Rd, Coimbatore 641037, Tamil Nadu, India

[3] G Kuppuswamy Naidu Mem Hosp, Dept Pediat, Netaji Rd, Coimbatore 641037, Tamil Nadu, India

来源：

RADIOLOGY-CARDIOTHORACIC IMAGING | 2024年 / 6卷 / 03期

关键词：

Genetic Defects; Congenital; Vascular; Calcification/Calculi; Aorta; Pulmonary Arteries; CT Angiography; Echocardiography; Pediatrics; MUTATIONS; ENPP1;

D O I：

10.1148/ryct.230403

中图分类号：

R8 [特种医学]; R445 [影像诊断学];

学科分类号：

1002 ; 100207 ; 1009 ;

摘要：

Generalized arterial calcification of infancy (GACI) is a rare genetic condition with varied clinical presentation. Consequently, diagnosis is frequently delayed or missed. GACI has a poor prognosis, with more than half of patients dying before the age of 6 months. Early diagnosis and treatment with bisphosphonates have been shown to improve survival in these patients. This is a case report of a newborn with respiratory distress who was initially diagnosed with coarctation of the aorta at echocardiography. Further imaging with CT revealed the aortic narrowing to be associated with GACI.

引用

页数：5

共 25 条

[21] Skeletal abnormalities secondary to antenatal etidronate treatment for suspected generalised arterial calcification of infancy [J].

Agarwal, Neha ;

Agarwal, Umber ;

Alfirevic, Zarko ;

Lim, Joyce ;

Kaleem, Musa ;

Landes, Caren ;

Mughal, M. Zulf ;

Ramakrishnan, R. .

BONE REPORTS, 2020, 12

[22] Prognostic value of right ventricular-pulmonary arterial coupling in adults with repaired coarctation of aorta [J].

Egbe, Alexander C. ;

Miranda, William R. ;

Jain, Charles ;

Connolly, Heidi M. ;

Burchill, Luke J. ;

Borlaug, Barry A. .

INTERNATIONAL JOURNAL OF CARDIOLOGY CONGENITAL HEART DISEASE, 2025, 21

[23] A severe ABCC6-induced generalized arterial calcification of infancy overshadowed by the EGFR-associated neonatal inflammatory skin and bowel disease 2 in a Roma girl [J].

Karabinos, Anton ;

Hrebenar, Pavol ;

Hyblova, Michaela ;

Tomkova, Erika ;

Plank, Lukas ;

Krizan, Peter ;

Repko, Peter ;

Soltysova, Beata .

JOURNAL OF DERMATOLOGY, 2025, 52 (05) :929-933

[24] Generalized Arterial Calcification of Infancy Type 1 (GACI1): Identification of a Novel Pathogenic Variant (c.1715T>C (p.Leu572Ser)) [J].

Bulfamante, Gaetano Pietro ;

Carpenito, Laura ;

Bragantini, Emma ;

Graziani, Silvia ;

Bellizzi, Maria ;

Bagowski, Christoph Peter ;

Shoukier, Moneef ;

Rivieri, Francesca ;

Soffiati, Massimo ;

Barbareschi, Mattia .

DIAGNOSTICS, 2021, 11 (06)

[25] Doppler-Derived Arterial Load Indices Better Reflect Left Ventricular Afterload Than Systolic Blood Pressure in Coarctation of Aorta [J].

Egbe, Alexander C. ;

Reddy, Yogesh N., V ;

Obokata, Masaru ;

Borlaug, Barry A. .

CIRCULATION-CARDIOVASCULAR IMAGING, 2020, 13 (02) :E009672

← 1 2 3 →