A novel cardiovascular presentation of Alport Syndrome: Spontaneous coronary artery dissection

Hoyo, Felipe Díez-del; Sanz‐Ruiz, Ricardo; Díez‐Villanueva, Pablo; Núñez-García, A.; Casado-Plasencia, Ana; Angulo-Llanos, Rocío; Clavero-Olmos, Marta; Corrales, Jaime Elízaga; Fernández-Avilés, Francisco

doi:10.1016/j.ijcard.2014.09.065

Cited by 10 publications

(9 citation statements)

References 9 publications

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“…The genes known to cause vEDS are included on most CTD panels and were thus on our gene lists. None of the 3 genes associated with AS— COL4A3 , COL4A4 , and COL4A5 —featured in any of our gene list sources, yet SCAD has been previously observed in 2 patients with AS 3,28 and other arteriopathies have been reported in AS patients. 20 We thus report the third known case of SCAD in an AS patient, for whom we identified a pathogenic variant in COL4A4 after screening genes associated with AS.…”

Section: Discussionmentioning

confidence: 81%

“…4,5,16 Epidemiologically, extracoronary vascular disorders, such as CTD and vasculopathies, have often been reported in SCAD patients, indicating a potential common genetic cause. [3][4][5][6] Six of our SCAD patients carried pathogenic or likely pathogenic variants in 4 Tier 1 genes associated with CTD, however, none of these cases had a prior CTD diagnosis, nor did they meet the clinical criteria for CTD diagnosis upon follow-up. This suggests that SCAD is potentially part of the phenotypic spectrum of these disorders and may occur in people with subclinical CTD.…”

Section: Discussionmentioning

confidence: 99%

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Exploring the Genetic Architecture of Spontaneous Coronary Artery Dissection Using Whole-Genome Sequencing

Tarr

Hesselson

Iismaa

et al. 2022

Circ: Genomic and Precision Medicine

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Background: Spontaneous coronary artery dissection (SCAD) is a cause of acute coronary syndrome that predominantly affects women. Its pathophysiology remains unclear but connective tissue disorders (CTD) and other vasculopathies have been observed in many SCAD patients. A genetic component for SCAD is increasingly appreciated, although few genes have been robustly implicated. We sought to clarify the genetic cause of SCAD using targeted and genome-wide methods in a cohort of sporadic cases to identify both common and rare disease-associated variants. Methods: A cohort of 91 unrelated sporadic SCAD cases was investigated for rare, deleterious variants in genes associated with either SCAD or CTD, while new candidate genes were sought using rare variant collapsing analysis and identification of novel loss-of-function variants in genes intolerant to such variation. Finally, 2 SCAD polygenic risk scores were applied to assess the contribution of common variants. Results: We identified 10 cases with at least one rare, likely disease-causing variant in CTD-associated genes, although only one had a CTD phenotype. No genes were significantly associated with SCAD from genome-wide collapsing analysis, however, enrichment for TGF (transforming growth factor)-β signaling pathway genes was found with analysis of 24 genes harboring novel loss-of-function variants. Both polygenic risk score demonstrated that sporadic SCAD cases have a significantly elevated genetic SCAD risk compared with controls. Conclusions: SCAD shares some genetic overlap with CTD, even in the absence of any major CTD phenotype. Consistent with a complex genetic architecture, SCAD patients also have a higher burden of common variants than controls.

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Section: Discussionmentioning

confidence: 81%

Section: Discussionmentioning

confidence: 99%

Exploring the Genetic Architecture of Spontaneous Coronary Artery Dissection Using Whole-Genome Sequencing

Tarr

Hesselson

Iismaa

et al. 2022

Circ: Genomic and Precision Medicine

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“…Antecedent emotional stresses such as a bereavement or major personal crisis have been reported in a higher than expected proportion of SCAD cases, particularly in women. 4,8,92 Inherited connective tissue disorders Although SCAD has frequently been reported in association with connective tissue disorders (Supplementary material online , Table S2), 38,44,[50][51][52][53][54][55][56][57][58][140][141][142][143] large contemporary series suggest such cases constitute a tiny minority of prevalent cases (around 1-2% in the US, Canadian, and Japanese series) 4,107 and until now the yield from genetic screening of SCAD-survivors for associated genes has been reported to be very low. 50…”

Section: Emotional Stressorsmentioning

confidence: 99%

European Society of Cardiology, acute cardiovascular care association, SCAD study group: a position paper on spontaneous coronary artery dissection

Adlam

Alfonso

Maas

et al. 2018

European Heart Journal

491

656

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“…Seki et al [53] believed that 5 and 6 chains of type IV collagen in the basement membranes may have particular function in the arteries which are required to tolerate strong pulse and blood pressure such as the aorta. AS is associated with aortic abnormalities including aortic dilatation, ruptured ascending aortic aneurysm, aortic dissection, aortic insufficiency, and bicuspid aortic valve and coronary artery pathology including spontaneous coronary artery dissection in male patients [54][55][56].…”

Section: Clinical Presentation Of Alport Syndromementioning

confidence: 99%

Alport Syndrome

Aksenova¹,

Shagam²

2018

Advances in Nephropathy

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Alport syndrome is a multisystem disorder including progressive renal disease, sensorineural deafness, and eye abnormalities. The high risk of cardiovascular pathology in patients with Alport syndrome was also described recently. The syndrome is caused by mutations in COL4A3, COL4A4, and COL4A5 genes, which lead to defects in glomerular filtration barrier and other basement membrane. The diagnosis of Alport syndrome should be suspected in patients with glomerular hematuria and with family history of renal failure. The severity of the individual symptoms and renal prognosis are variable and depend on gene mutation type. The current standard of treatment is the use of angiotensin-converting enzyme inhibitors, which delay the progression of renal failure in Alport syndrome. The recent knowledge in pathogenesis of disease opens new therapeutic perspectives.

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A novel cardiovascular presentation of Alport Syndrome: Spontaneous coronary artery dissection

Cited by 10 publications

References 9 publications

Exploring the Genetic Architecture of Spontaneous Coronary Artery Dissection Using Whole-Genome Sequencing

Exploring the Genetic Architecture of Spontaneous Coronary Artery Dissection Using Whole-Genome Sequencing

European Society of Cardiology, acute cardiovascular care association, SCAD study group: a position paper on spontaneous coronary artery dissection

Alport Syndrome

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