Ignite Creation Date:
2024-05-05 @ 11:20 AM
Last Modification Date:
2024-10-26 @ 9:04 AM
Study NCT ID:
NCT00005251
Status:
COMPLETED
Last Update Posted:
2016-03-16
First Post:
2000-05-25
Brief Title:
Genetic Analysis of Familial Hypertrophic Cardiomyopathy
Sponsor:
National Heart Lung and Blood Institute NHLBI
Organization:
National Heart Lung and Blood Institute NHLBI
Study Overview
Official Title:
None
Status:
COMPLETED
Status Verified Date:
2000-06
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
To map the genetic defect responsible for familial hypertrophic cardiomyopathy
Detailed Description:
BACKGROUND
Familial hypertrophic cardiomyopathy is a disease of heart muscle that is genetically transmitted as an autosomal dominant trait with a high degree of penetrance Affected individuals typically have asymmetric thickening of the interventricular septum often involving the adjacent left ventricular free wall Histologically myocardial cells are enlarged and muscle bundles are grossly disorganized producing a whorled pattern The physiologic consequence of this cardiomyopathy is diastolic dysfunction with impaired ventricular relaxation and elevated diastolic pressures in the heart and pulmonary vasculature Patients can experience dyspnea angina palpitations and syncope Complications of the disease include atrial fibrillation congestive heart failure thromboembolism and most importantly sudden death
DESIGN NARRATIVE
The three kindreds studied included one in Iceland one in the St Lawrence region in Canada and one in the Pittsburgh Pennsylvania area Pedigrees were established for the three kindreds All family members were clinically evaluated by physical exam electrocardiogram and comprehensive M-mode and two-dimensional echocardiography Lymphoblastoid cell lines were derived from all members of the three pedigrees Restriction fragment length polymorphism analyses were used to identify a DNA probe that was linked to familial hypertrophic cardiomyopathy Studies were conducted to determine if the familial hypertrophic cardiomyopathy locus was the same in all three kindreds and to identify the gene responsible
The study completion date listed in this record was obtained from the End Date entered in the Protocol Registration and Results System PRS record
Familial hypertrophic cardiomyopathy is a disease of heart muscle that is genetically transmitted as an autosomal dominant trait with a high degree of penetrance Affected individuals typically have asymmetric thickening of the interventricular septum often involving the adjacent left ventricular free wall Histologically myocardial cells are enlarged and muscle bundles are grossly disorganized producing a whorled pattern The physiologic consequence of this cardiomyopathy is diastolic dysfunction with impaired ventricular relaxation and elevated diastolic pressures in the heart and pulmonary vasculature Patients can experience dyspnea angina palpitations and syncope Complications of the disease include atrial fibrillation congestive heart failure thromboembolism and most importantly sudden death
DESIGN NARRATIVE
The three kindreds studied included one in Iceland one in the St Lawrence region in Canada and one in the Pittsburgh Pennsylvania area Pedigrees were established for the three kindreds All family members were clinically evaluated by physical exam electrocardiogram and comprehensive M-mode and two-dimensional echocardiography Lymphoblastoid cell lines were derived from all members of the three pedigrees Restriction fragment length polymorphism analyses were used to identify a DNA probe that was linked to familial hypertrophic cardiomyopathy Studies were conducted to determine if the familial hypertrophic cardiomyopathy locus was the same in all three kindreds and to identify the gene responsible
The study completion date listed in this record was obtained from the End Date entered in the Protocol Registration and Results System PRS record
Study Oversight
Has Oversight DMC:
Is a FDA Regulated Drug?:
Is a FDA Regulated Device?:
Is an Unapproved Device?:
Is a PPSD?:
Is a US Export?:
Is an FDA AA801 Violation?:
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| R01HL042467 | NIH | None | httpsreporternihgovquickSearchR01HL042467 |