Echocardiography for Patent Ductus Arteriosus Including Closure in Adults

Chugh, Reema; Salem, Morris

doi:10.1111/echo.12457

Cited by 16 publications

(20 citation statements)

References 56 publications

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“…This is for example the case in patients with a small to moderate patent ductus arteriosus Botalli, who may remain asymptomatic during childhood, leaving the defect thus undetected. Some of these patients develop congestive heart failure in early adulthood due to a chronic, left heart overload [57]. Early diagnosis can enable early surgical closure of the patent ductus arteriosus Botalli, hereby preventing the development of heart failure.…”

Section: Discussionmentioning

confidence: 99%

GGCX-Associated Phenotypes: An Overview in Search of Genotype-Phenotype Correlations

Vilder

Debacker

Vanakker

2017

IJMS

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Gamma-carboxylation, performed by gamma-glutamyl carboxylase (GGCX), is an enzymatic process essential for activating vitamin K-dependent proteins (VKDP) with important functions in various biological processes. Mutations in the encoding GGCX gene are associated with multiple phenotypes, amongst which vitamin K-dependent coagulation factor deficiency (VKCFD1) is best known. Other patients have skin, eye, heart or bone manifestations. As genotype–phenotype correlations were never described, literature was systematically reviewed in search of patients with at least one GGCX mutation with a phenotypic description, resulting in a case series of 47 patients. Though this number was too low for statistically valid correlations—a frequent problem in orphan diseases—we demonstrate the crucial role of the horizontally transferred transmembrane domain in developing cardiac and bone manifestations. Moreover, natural history suggests ageing as the principal determinant to develop skin and eye symptoms. VKCFD1 symptoms seemed more severe in patients with both mutations in the same protein domain, though this could not be linked to a more perturbed coagulation factor function. Finally, distinct GGCX functional domains might be dedicated to carboxylation of very specific VKDP. In conclusion, this systematic review suggests that there indeed may be genotype–phenotype correlations for GGCX-related phenotypes, which can guide patient counseling and management.

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Section: Discussionmentioning

confidence: 99%

GGCX-Associated Phenotypes: An Overview in Search of Genotype-Phenotype Correlations

Vilder

Debacker

Vanakker

2017

IJMS

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“…Echocardiography is the key diagnostic imaging modality; however, it may be difficult in patients with Eisenmenger physiology [30]. Echocardiography defines the presence and the size of the PAD, the effect of the shunt on the left atrium and left ventricle, the pulmonary circulation and any associated lesions [31].…”

Section: Congenital Heart Diseasementioning

confidence: 99%

“…Magnetic resonance imaging (MRI) or computed tomography (CT) is indicated to evaluate pulmonary artery anatomy or to obtain more precise left ventricular volumes. Cardiac catheterisation is reserved for cases with signs of pulmonary hypertension on echocardiography to estimate pulmonary vascular resistance and assess the reactivity of the pulmonary vascular bed [30,31].…”

Section: Congenital Heart Diseasementioning

confidence: 99%

Patent Arterial Duct

Karatza¹,

Sinopidis²

2018

Congenital Heart Disease

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The arterial duct is a short vessel that connects the junction of the main and left pulmonary artery to the descending aorta just distal to the left subclavian artery. In foetal life, it is an essential vascular structure that allows oxygenated blood to bypass the pulmonary circulation, since the lungs are not involved in oxygenation and enter systemic circulation. Persistent patency of the arterial duct after 3 months of age in term infants is a common form of congenital cardiovascular abnormality representing 5-10% of all congenital heart defects. Also, persistent patency of the arterial duct is a common problem in very premature sick neonates, which is associated with significant morbidity and mortality and is attributed to immaturity of the duct and associated co-morbidities in this population.

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“…Long‐standing left‐to‐right shunting across a PDA can result in Eisenmenger syndrome . During the stage of bidirectional or right‐to‐left shunting, echocardiography findings might be subtle and the diagnosis can be missed.…”

mentioning

confidence: 99%

A Doppler ghost in the pulmonary artery

et al. 2020

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Long‐standing left‐to‐right shunting across a patent ductus arteriosus (PDA) can result in Eisenmenger syndrome. In this report, we present echocardiographic findings of a 27‐year‐old female patient with pulmonary hypertension. In diagnostic work‐up especially Doppler findings of the pulmonary artery suggested the presence of a reversed PDA as a cause of pulmonary hypertension. The diagnosis was confirmed by contrast study and computed tomography.

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Echocardiography for Patent Ductus Arteriosus Including Closure in Adults

Cited by 16 publications

References 56 publications

GGCX-Associated Phenotypes: An Overview in Search of Genotype-Phenotype Correlations

GGCX-Associated Phenotypes: An Overview in Search of Genotype-Phenotype Correlations

Patent Arterial Duct

A Doppler ghost in the pulmonary artery

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