Ehlers-Danlos syndrome associated with multiple pulmonary artery stenoses and tortuous systemic arteries

doi:10.1016/S0022-3476(69)80342-2

The Journal of Pediatrics

Volume 75, Issue 6, Part 1, December 1969, Pages 1031-1036

https://doi.org/10.1016/S0022-3476(69)80342-2 Get rights and content

A young girl with Ehlers-Danlos syndrome had evidence of multiple severe peripheral pulmonary artery stenoses and of tortuosity of the aorta and its major thoracic divisions, including the coronary arteries. It appears likely that the basic defect of Ehlers-Danlos syndrome may involve many arteries and may cause important vasular obstruction.

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Cited by (40)

Corneal stromal deposits in connective tissue disease, a case series
2022, American Journal of Ophthalmology Case Reports
Citation Excerpt :
Since then, ATS has been considered distinct from EDS but the two share many phenotypic similarities, including their ophthalmic manifestations. Most notably, these manifestations include high myopia, keratoconus, and keratoglobus.1,2 Brittle cornea syndrome has been reported in association with EDS type VI, a rare autosomal recessive disease affecting extracellular matrix and collagen synthesis characterized by blue sclera and corneal thinning which increases the risk of corneal rupture either spontaneously or with minor trauma.3,4
We report two cases of refractile, peripheral, corneal stromal deposition in two patients with arterial tortuosity syndrome (ATS) and Ehlers-Danlos syndrome (EDS), two closely related connective tissue diseases (CTDs).
Patient 1: A 21-year-old man with history of ATS and keratoectasia presented with bilateral peripheral corneal neovascularization with numerous whitish brown, refractile, deep stromal opacities that were circumferential along the inferotemporal cornea. After 3 years of follow-up, the corneal deposits did not progress, but the ectasia did, with significant bilateral corneal steepening and thinning for which the patient was recommended to undergo repeat corneal collagen cross linking. Patient 2: A 26-year-old man with presumed diagnosis of EDS presented with numerous whitish brown, refractile, deep stromal opacities that were circumferential along the temporal cornea in the right eye, and superiorly in the left eye. The left eye had a pseudopterygium involving 50% of the cornea. After 2 years of follow-up, the corneal opacities did not progress; however, the patient underwent primary excision of the pseudopterygium and subsequently had conjunctivalization of the entire cornea. The lesions in both cases resembled those seen in Terrien's marginal degeneration.
Peripheral corneal stromal deposits have never been reported before in EDS or ATS or other connective tissue diseases. This case series may prompt further inquiry and characterization of these findings in patients with CTDs.
Arterial tortuosity syndrome: 40 new families and literature review
2018, Genetics in Medicine
We delineate the clinical spectrum and describe the histology in arterial tortuosity syndrome (ATS), a rare connective tissue disorder characterized by tortuosity of the large and medium-sized arteries, caused by mutations in SLC2A10.
We retrospectively characterized 40 novel ATS families (50 patients) and reviewed the 52 previously reported patients. We performed histology and electron microscopy (EM) on skin and vascular biopsies and evaluated TGF-β signaling with immunohistochemistry for pSMAD2 and CTGF.
Stenoses, tortuosity, and aneurysm formation are widespread occurrences. Severe but rare vascular complications include early and aggressive aortic root aneurysms, neonatal intracranial bleeding, ischemic stroke, and gastric perforation. Thus far, no reports unequivocally document vascular dissections or ruptures. Of note, diaphragmatic hernia and infant respiratory distress syndrome (IRDS) are frequently observed. Skin and vascular biopsies show fragmented elastic fibers (EF) and increased collagen deposition. EM of skin EF shows a fragmented elastin core and a peripheral mantle of microfibrils of random directionality. Skin and end-stage diseased vascular tissue do not indicate increased TGF-β signaling.
Our findings warrant attention for IRDS and diaphragmatic hernia, close monitoring of the aortic root early in life, and extensive vascular imaging afterwards. EM on skin biopsies shows disease-specific abnormalities.
An algorithmic approach to CT of pulmonary arterial disorders
2016, Clinical Imaging
Citation Excerpt :
Patients in this syndrome may have pulmonary stenosis with or without a dysplastic pulmonary valve [81]. Ehlers–Danlos syndrome results from a genetic collagen defect with multisystemic consequences, and those with predominantly vascular manifestations can demonstrate multiple pulmonary artery stenoses [82]. Congenital rubella syndrome, caused by in utero infection of the fetus by the rubella virus, is associated with branch pulmonary artery stenoses and PDA [83].
A broad spectrum of pulmonary arterial disorders can be diagnosed on computed tomography (CT). Comprehensive evaluation of the pulmonary arteries requires careful assessment of their configuration, patency, and size. This article presents an organized approach to pulmonary arterial disorders on CT, with particular attention to characteristic CT findings that aid in accurate diagnosis and proper management.
Respiratory complications of Ehlers-Danlos syndrome type IV
2013, Legal Medicine
Citation Excerpt :
In addition, the thoracic aorta showed thin adventitia and a relative increase in elastic fibers. These findings were considered to be because of an increase in abnormal collagen fibers as described previously [12–14]. Although uncommon, respiratory manifestations of EDS have also been described [15–17] and include recurrent hemoptysis, bulla formation, spontaneous pneumothorax, and repeated episodes of pneumonia.
We describe a case of Ehlers–Danlos syndrome (EDS) type IV in a male in early half in his twenties, who experienced recurrent and eventually fatal pulmonary hemorrhage. EDS type IV is a rare disorder of type III collagen synthesis that is characterized by unusual facies, thin translucent skin with a venous vascular pattern, easy bruising, and hypermobility of the small joints. Autopsy findings showed hypermobility of the joints and distensibility of the skin. Microscopically, the abdominal skin showed substantially decreased dermal thickness. Moreover, the reticular dermis showed fine collagen bundles and large interstitial spaces compared with the skin from a normal control that showed large collagen bundles. Individual elastic fibers were also thicker than those observed in the skin of a normal control. The thoracic aorta showed thin adventitia and a relative increase in elastic fibers. The parenchyma of both the lungs showed markedly diffuse hemorrhage with hemosiderin-laden alveolar macrophages or old thrombi and organized thrombi in the small bronchi. Furthermore, both sections of the lung showed multiple fibrous nodules containing benign metaplastic bone. Vascular wall disruption and tearing of the vessel walls in the lung parenchyma were also observed. We concluded that EDS type IV led to the patient’s death because of pulmonary hemorrhage. Because this syndrome resulted in the patient’s death from arterial and bowel rupture, it is important to consider EDS as a potential cause of sudden death.
Retinal arterial tortuosity in Ehlers–Danlos syndromes
2023, Eye (Basingstoke)
Pulmonary artery aneurysm: a review
2020, Pulmonary Circulation

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^†: Supported in part by United States Public Health Service Grants Nos. HE 06336-08 and HE 10132-04 and by the Oregon Heart Association.

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Original articleEhlers-Danlos syndrome associated with multiple pulmonary artery stenoses and tortuous systemic arteries†

Am. J. Med.

Am. J. Cardiol.

Am. J. Med.

Am. J. Med.

Lancet

J. Pediat.

Heritable disorders of connective tissue

The structure of the connective tissue, an explanation of the symptoms of the Ehlers-Danlos syndrome

Dermatologica

Ehlers-Danlos syndrome. Pathologic, histochemical and electron microscopic observations

Arch. Path.

Ehlers-Danlos syndrome associated with tetralogy of Fallot

Arch. Dermat. & Syph.

Ehlers-Danlos syndrome

Am. J. Dis. Child.

Original article
Ehlers-Danlos syndrome associated with multiple pulmonary artery stenoses and tortuous systemic arteries†