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Factors Contributing to Increased Left Ventricle Size in Patients With Abnormally Enlarged Hearts

Sponsored by National Heart, Lung, and Blood Institute (NHLBI)

About this trial

Last updated 18 years ago

Study ID

990058

Status

Completed

Type

Observational

Placebo

No

Accepting

All Ages
All Sexes

Trial Timing

Ended 24 years ago

What is this trial about?

The human heart is divided into four chambers. One of the four chambers, the left ventricle, is the chamber mainly responsible for pumping blood out of the heart into the circulation. There is an inherited condition affecting the heart, passed on through genetics, hypertrophic cardiomyopathy (HCM). HCM causes the left ventricle to become abnormally enlarged (left ventricular hypertrophy LVH). Some patients with the abnormal genes that may cause HCM do not have the characteristic LVH. Approximately 20 - 40% of patients with the genetic abnormality (missense mutation of genes encoding for sarcomeric protein) actually have an enlarged left ventricle. Because of this, researchers believe there may be other factors, along with the genetic abnormality that contribute to the development of HCM. Researchers are interested in learning more about several factors they suspect may play a role in the development of HCM. Specifically, researchers plan to study levels of a hormone and the protein it attaches to, which may contribute to the development of an abnormally enlarged heart. Insulin-like growth factor (IGF-1) and insulin-like growth factor binding protein (IGFBP) work together with growth hormone (GH) in the development and maturation of many organ systems. Previous studies have suggested that these hormones affect the development and function of the heart. Patients participating in this study will undergo a variety of tests including collection of blood samples, echocardiogram of the heart, treadmill exercise test, and continuous electrical monitoring of heart activity (Holter monitor).

What are the participation requirements?

Inclusion Criteria

HCM subjects 5 years or older, with distinct sarcomeric gene mutations and LV wall thickness greater than 15 mm in subjects older than 18 years, and greater than 2 SDs in subjects 18 years of age or younger, as assessed by MRI. Age- and gender-matched blood relatives with sarcomeric gene mutations but without LVH. Age- and gender-matched blood relatives without sarcomeric gene mutations.

Exclusion Criteria

History of hypertension (basal systolic and diastolic pressures above 170 mm Hg and 95 mm Hg, respectively) or another systemic or cardiac disease that may cause cardiac hypertrophy. History of recent acute illness or other chronic illness that might affect plasma levels of IGF-I and IGFBP3. History of thyrotoxicosis, diabetes mellitus or abnormally elevated fasting blood sugar. Any conditions which would exclude patients from undergoing MRI scan.