Genetic Investigations in Spontaneous Coronary Artery Dissection (SCAD)

NCT01427179 | Recruiting

• 1 other identifier: 11-000160
• Study Type: observational
• Target: 2,000
• Locations: 1 country
• Sites: 1

Brief Summary

The purpose of the research is to identify mutations (defects in the genetic blueprint) that cause spontaneous coronary artery dissection (SCAD), in other words, spontaneous tears in blood vessels that supply the heart. Some mutations may be inherited (passed on) from a parent without an apparent blood vessel problem while others may develop for the first time in the affected person.

Conditions

Spontaneous Coronary Artery Dissection; SCAD

Keywords

Spontaneous coronary artery dissection; SCAD

Outcome Measures

Primary Outcomes (1)

• Identification of one or more gene mutation responsible for SCAD

  Via GWAS and whole exome sequencing

  By end of study

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Men and women diagnosed with spontaneous coronary artery dissection (SCAD), their biological parents, and relatives with fibromuscular dysplasia, arterial aneurysm, or arterial dissection.

You may qualify if:

• Men and women able to give informed consent and complete a 2 page questionnaire
• Diagnosis of one or more episodes of spontaneous coronary artery dissection (SCAD)
• Biological parent of individual with SCAD
• Relative with fibromuscular dysplasia, arterial aneurysm, or arterial dissection

You may not qualify if:

• Lack of confirmation of SCAD diagnosis

Sponsors & Collaborators

• Mayo Clinic: lead

Study Sites (1)

Mayo Clinic

Rochester, Minnesota, 55905, United States

RECRUITING

Related Publications (10)

• Tweet MS, Gulati R, Aase LA, Hayes SN. Spontaneous coronary artery dissection: a disease-specific, social networking community-initiated study. Mayo Clin Proc. 2011 Sep;86(9):845-50. doi: 10.4065/mcp.2011.0312.

  PMID: 21878595 BACKGROUND

• Hayes SN, Kim ESH, Saw J, Adlam D, Arslanian-Engoren C, Economy KE, Ganesh SK, Gulati R, Lindsay ME, Mieres JH, Naderi S, Shah S, Thaler DE, Tweet MS, Wood MJ; American Heart Association Council on Peripheral Vascular Disease; Council on Clinical Cardiology; Council on Cardiovascular and Stroke Nursing; Council on Genomic and Precision Medicine; and Stroke Council. Spontaneous Coronary Artery Dissection: Current State of the Science: A Scientific Statement From the American Heart Association. Circulation. 2018 May 8;137(19):e523-e557. doi: 10.1161/CIR.0000000000000564. Epub 2018 Feb 22.

  PMID: 29472380 BACKGROUND

• Henkin S, Negrotto SM, Tweet MS, Kirmani S, Deyle DR, Gulati R, Olson TM, Hayes SN. Spontaneous coronary artery dissection and its association with heritable connective tissue disorders. Heart. 2016 Jun 1;102(11):876-81. doi: 10.1136/heartjnl-2015-308645. Epub 2016 Feb 10.

  PMID: 26864667 BACKGROUND

• Goel K, Tweet M, Olson TM, Maleszewski JJ, Gulati R, Hayes SN. Familial spontaneous coronary artery dissection: evidence for genetic susceptibility. JAMA Intern Med. 2015 May;175(5):821-6. doi: 10.1001/jamainternmed.2014.8307.

  PMID: 25798899 RESULT

• Adlam D, Olson TM, Combaret N, Kovacic JC, Iismaa SE, Al-Hussaini A, O'Byrne MM, Bouajila S, Georges A, Mishra K, Braund PS, d'Escamard V, Huang S, Margaritis M, Nelson CP, de Andrade M, Kadian-Dodov D, Welch CA, Mazurkiewicz S, Jeunemaitre X; DISCO Consortium; Wong CMY, Giannoulatou E, Sweeting M, Muller D, Wood A, McGrath-Cadell L, Fatkin D, Dunwoodie SL, Harvey R, Holloway C, Empana JP, Jouven X; CARDIoGRAMPlusC4D Study Group; Olin JW, Gulati R, Tweet MS, Hayes SN, Samani NJ, Graham RM, Motreff P, Bouatia-Naji N. Association of the PHACTR1/EDN1 Genetic Locus With Spontaneous Coronary Artery Dissection. J Am Coll Cardiol. 2019 Jan 8;73(1):58-66. doi: 10.1016/j.jacc.2018.09.085.

  PMID: 30621952 RESULT

• Turley TN, Theis JL, Sundsbak RS, Evans JM, O'Byrne MM, Gulati R, Tweet MS, Hayes SN, Olson TM. Rare Missense Variants in TLN1 Are Associated With Familial and Sporadic Spontaneous Coronary Artery Dissection. Circ Genom Precis Med. 2019 Apr;12(4):e002437. doi: 10.1161/CIRCGEN.118.002437. Epub 2019 Mar 19.

  PMID: 30888838 RESULT

• Turley TN, O'Byrne MM, Kosel ML, de Andrade M, Gulati R, Hayes SN, Tweet MS, Olson TM. Identification of Susceptibility Loci for Spontaneous Coronary Artery Dissection. JAMA Cardiol. 2020 Aug 1;5(8):929-938. doi: 10.1001/jamacardio.2020.0872.

  PMID: 32374345 RESULT

• Adlam D, Berrandou TE, Georges A, Nelson CP, Giannoulatou E, Henry J, Ma L, Blencowe M, Turley TN, Yang ML, Chopade S, Finan C, Braund PS, Sadeg-Sayoud I, Iismaa SE, Kosel ML, Zhou X, Hamby SE, Cheng J, Liu L, Tarr I, Muller DWM, d'Escamard V, King A, Brunham LR, Baranowska-Clarke AA, Debette S, Amouyel P, Olin JW, Patil S, Hesselson SE, Junday K, Kanoni S, Aragam KG, Butterworth AS; CARDIoGRAMPlusC4D; MEGASTROKE; International Stroke Genetics Consortium (ISGC) Intracranial Aneurysm Working Group; Tweet MS, Gulati R, Combaret N; DISCO register; Kadian-Dodov D, Kalman JM, Fatkin D, Hingorani AD, Saw J, Webb TR, Hayes SN, Yang X, Ganesh SK, Olson TM, Kovacic JC, Graham RM, Samani NJ, Bouatia-Naji N. Genome-wide association meta-analysis of spontaneous coronary artery dissection identifies risk variants and genes related to artery integrity and tissue-mediated coagulation. Nat Genet. 2023 Jun;55(6):964-972. doi: 10.1038/s41588-023-01410-1. Epub 2023 May 29.

  PMID: 37248441 RESULT

• Turley TN, Kosel ML, Bamlet WR, Gulati R, Hayes SN, Tweet MS, Olson TM. Susceptibility Locus for Pregnancy-Associated Spontaneous Coronary Artery Dissection. Circ Genom Precis Med. 2021 Aug;14(4):e003398. doi: 10.1161/CIRCGEN.121.003398. Epub 2021 Aug 13. No abstract available.

  PMID: 34384238 RESULT

• Kok SN, Hayes SN, Cutrer FM, Raphael CE, Gulati R, Best PJM, Tweet MS. Prevalence and Clinical Factors of Migraine in Patients With Spontaneous Coronary Artery Dissection. J Am Heart Assoc. 2018 Dec 18;7(24):e010140. doi: 10.1161/JAHA.118.010140.

  PMID: 30561271 DERIVED

Related Links

• Patient information on spontaneous coronary artery dissection

Biospecimen

Retention: SAMPLES WITH DNA

A 30 ml sample of blood from a vein or an existing catheter will be drawn at Mayo Clinic or another medical center and returned through the mail in a kit. Alternatively, a saliva sample will be collected and returned through the mail in a kit. An additional 10 ml (2 teaspoons) of blood, buccal smear, and/or available tissue samples may also be collected.

MeSH Terms

Conditions

Coronary Artery Dissection, Spontaneous

Study Officials

• Sharonne N. Hayes, M.D.

  Mayo Clinic

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Jake Nemgar

CONTACT

5072663180; MayoSCAD@Mayo.edu

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Target Duration: 15 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: August 30, 2011
• First Posted: September 1, 2011
• Study Start: May 1, 2011
• Primary Completion (Estimated): December 1, 2028
• Study Completion (Estimated): December 1, 2030
• Last Updated: April 15, 2026

Record last verified: 2026-04

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)