A Case of Alport Syndrome Associated with Recurrent Stanford Type B Aortic Dissections

Takeda, Masako; Minagawa, Tadanori; Hiranuma, Wakiko; Matsuoka, Takahiro; Shimizu, Takuya; Kawamoto, Shunsuke

doi:10.3400/avd.cr.22-00010

Cited by 3 publications

(4 citation statements)

References 7 publications

(8 reference statements)

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“…15,16 Patients with AS are predisposed to hypertension, and their fragile vasculature may be especially susceptible to the resulting stress. 4,5,10 Dissection due to hypertension is unlikely to be the cause of the initial presentation in this case as the patient had a history of normotension, with baseline systolic blood pressures (SBP) in the 100-110 mmHg range and diastolic blood pressures (DBP) in the 60-70 mmHg range. Maintaining high MAP goals may have worsened or caused the intracranial dissections in this case.…”

Section: Discussionmentioning

confidence: 96%

“…4,5 There are several reports of spontaneous arterial dissections in patients with AS, most commonly in the aorta or coronary arteries. [6][7][8][9][10][11][12] Defects in type IV collagen or its subunits have been demonstrated in the tunica media of patients with spontaneous aortic dissections. 7,8 Mice models of X-linked AS have shown a lack of alpha-5 staining in the aorta compared to continuous staining in wild-type mice.…”

Section: Discussionmentioning

confidence: 99%

“…4,5 Indeed, there have been reported cases of aortic, coronary, and cervical artery dissections in patients with AS. 6–14 We present here a case of intracranial arterial dissection with BAO in a patient with AS.…”

Section: Introductionmentioning

confidence: 94%

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Vertebral and Basilar Artery Dissection in a Patient With Alport Syndrome

Talbot-Stetsko

Saleh

Brent

et al. 2023

The Neurohospitalist

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Basilar artery occlusion (BAO) is a rare cause of stroke associated with significant morbidity and mortality. It is most frequently thromboembolic in nature, but may be caused by vertebral artery dissection. We present a case of BAO in a 36-year-old woman with Alport syndrome. She was treated with emergent thrombectomy via the right vertebral artery with return to baseline neurological status. Her clinical status deteriorated later the same day and she was found to have re-occlusion. Repeat thrombectomy was complicated by persistent re-occlusion requiring 7 passes to achieve reperfusion. Unfortunately, her neurological exam remained poor and she was transitioned to comfort care, expiring on admission day 3. An autopsy demonstrated acute dissection of the left vertebral artery, basilar artery, and bilateral posterior cerebral arteries. Alport syndrome is a type IV collagenopathy most known for causing kidney disease. It may also be associated with vascular fragility as type IV collagen forms a significant component of the vascular basement membrane. There are reports of aortic, coronary, and cervical dissections, but few reports of intracranial dissections in patients with Alport syndrome. While iatrogenic dissection cannot be ruled out, the histological findings in this case are most consistent with spontaneous arterial dissection as the cause of her initial neurologic presentation. This highlights the need for further investigation into the relationship between Alport syndrome and vascular fragility and should alert clinicians to the possibility of intracranial dissection in patients with AS.

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Section: Discussionmentioning

confidence: 96%

Section: Discussionmentioning

confidence: 99%

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Vertebral and Basilar Artery Dissection in a Patient With Alport Syndrome

Talbot-Stetsko

Saleh

Brent

et al. 2023

The Neurohospitalist

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“…There are multiple reports of aortic abnormalities in patients with AS, including aortic dilation, thoracic and abdominal aortic aneurysm, and aortic dissection [ 1 , 3 , 8 – 18 ]. The first report of aortic pathology in patients with AS described two brothers, ages 13 and 15, who were respectively diagnosed with aortic dissection and aortic root enlargement [ 11 ].…”

Section: Discussionmentioning

confidence: 99%

Ascending aortic aneurysm and histopathology in Alport syndrome: a case report

Kamiar,

Alitter,

Capcha

et al. 2023

BMC Nephrol

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Background Alport syndrome (AS) is caused by mutations in type IV collagen genes that typically target and compromise the integrity of basement membranes in kidney, ocular, and sensorineural cochlear tissues. Type IV and V collagens are also integral components of arterial walls, and whereas collagenopathies including AS are implicated in aortic disease, the incidence of aortic aneurysm in AS is unknown probably because of underreporting. Consequently, AS is not presently considered an independent risk factor for aortic aneurysm and more detailed case studies including histological evidence of basement membrane abnormalities are needed to determine such a possible linkage. Case presentation Here, we present unique histopathological findings of an ascending aortic aneurysm collected at the time of surgery from an AS patient wherein hypertension was the only other known risk factor. Conclusions The studies reveal classical histological features of aortic aneurysm, including atheroma, lymphocytic infiltration, elastin disruption, and myxoid degeneration with probable AS association.

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Prevalence and risk factors for dilatation of sinus of Valsalva in boys with X-linked Alport syndrome

Aksenova,

Tutelman,

Anikalchuk

2024

Ross. vestn. perinatol. pediatr.

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X-linked Alport syndrome is multisystem disease caused by mutation in COL4A5. Aortic dilatation described in X-linked Alport syndrome is considered a specific manifestation of the disease.Purpose. To define prevalence and risk factors for aortic dilatation in boys with X-linked Alport syndrome.Methods. Retrospective cross-section single center study included boys with X-linked Alport syndrome (n=67, age 10.2±4.6), comparison group consisted of boys with congenital urinary tract abnormalities (n=20, age12.2±4.8). All patients underwent on clinical-laboratory examination and echocardiography. Aorta was measured in the parasternal long-axis view at level of the sinus of Valsalva, aortic dilatation was determined by z-score >2 for BSA.Results. The prevalence of sinus of Valsalva dilatation did not differ between two groups (0.1 vs 0.15; p=0.47). The sinus of Valsalva dilatation was associated with body mass index (p=0.019), left ventricular diastolic diameter (p=0.01) and left ventricular mass (p=0.01) in children with congenital urinary tract abnormalities, with body mass index (p=0.02) and left ventricular diastolic diameter (p=0.03) in boys with Alport syndrome. No statistically significant effect of blood pressure level, proteinuria, eGFR and type of COL4A5 mutation on aortic dilatation has been demonstrated.Conclusion. The prevalence of aortic dilatation in boys with X-linked Alport syndrome is higher than in general population, but comparable to children with congenital urinary tract abnormalities. The body mass index and left ventricular diastolic diameter were associated with aortic dilatation in Alport syndrome males. We did not show the relationship between blood pressure load, proteinuria, eGFR and aortic dilatation. Study limitations: small sample size, prevalence of young patients with chronic kidney diseases stage 1–2 and missense mutations in the COL4A5 gene.

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A Case of Alport Syndrome Associated with Recurrent Stanford Type B Aortic Dissections

Cited by 3 publications

References 7 publications

Vertebral and Basilar Artery Dissection in a Patient With Alport Syndrome

Vertebral and Basilar Artery Dissection in a Patient With Alport Syndrome

Ascending aortic aneurysm and histopathology in Alport syndrome: a case report

Prevalence and risk factors for dilatation of sinus of Valsalva in boys with X-linked Alport syndrome

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