Tissue Specimen Collection for Study of Inherited Diseases Involving Non-muscle Gene Mutations

• INCLUSION CRITERIA:

  i. Index Cases

  1. Those patients who have Pentalogy of Cantrell (as defined under STUDY DESIGN) or other diseases that could involve mutation of any of the nonmuscle myosin genes that will be defined in future amendments.
  2. Outside Institutions- All ages will be included

At the Clinical Center-Those subjects that are greater than or equal to 2 years of age and older.

ii. Relatives of Index Cases

1. We may obtain samples from family members and/or relatives of those individuals who have mutations for genotyping and/or the analysis of proteins or DNA/RNA in the future. Only family members who have a mutation in myosin IIB, IIA, IIC, or interacting proteins will be further examined.

2. Outside Institutions - All ages will be included.

   At the Clinical Center - Those subjects that are greater than or equal to 2 years of age and older.

3. Patients and family who have the genotype of interest will undergo examination as listed above under Baseline Evaluation for Screening (page 6).

iii. Fetal tissue:

1. Echocardiographic written report documenting evidence of ectopia cordis or a defect in ventricular wall closure.

2. Research use of the fetal tissue under the following conditions only:

   1. No profits will be involved;
   2. NIH researchers will have no involvement in the termination of pregnancy, and
   3. The tissue must be obtained in accordance with state and local law.

EXCLUSION CRITERIA:

In screening for subjects who may be asymptomatic, but who could be carrying the gene, we will exclude all children under the age of 2.