Hypertrophic cardiomyopathy 15- MedGen UID:
- 413312
- •Concept ID:
- C2750459
- •
- Disease or Syndrome
Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the VCL gene.
Hypertrophic cardiomyopathy 14- MedGen UID:
- 442484
- •Concept ID:
- C2750467
- •
- Disease or Syndrome
An autosomal dominant subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the MYH6 gene, encoding myosin-6.
Congenital heart defects, multiple types, 6- MedGen UID:
- 462571
- •Concept ID:
- C3151221
- •
- Congenital Abnormality
Multiple types of congenital heart defects are associated with mutation in the GDF1 gene, including tetralogy of fallot (TOF), transposition of the great arteries (TGA), double-outlet right ventricle (DORV), total anomalous pulmonary venous return (TAPVR), pulmonary stenosis or atresia, atrioventricular canal, ventricular septal defect (VSD), and hypoplastic left or right ventricle (Jin et al., 2017).
For a discussion of genetic heterogeneity of multiple types of congenital heart defects, see 306955.
Congenital heart defects, multiple types, 2- MedGen UID:
- 767193
- •Concept ID:
- C3554279
- •
- Disease or Syndrome
Multiple types of congenital heart defects-2 (CHTD2) is characterized by variable congenital heart defects, primarily involving the valves, but also including septal defects or aneurysms, and complex defects such as tetralogy of Fallot. Dilated cardiomyopathy and myocardial noncompaction have been reported in some patients. In addition, some affected individuals exhibit facial dysmorphism and features of connective tissue disease (Thienpont et al., 2010; Ackerman et al., 2016; Ritelli et al., 2018).
For a discussion of genetic heterogeneity of CHTD, see 306955.
Congenital heart defects, multiple types, 4- MedGen UID:
- 862747
- •Concept ID:
- C4014310
- •
- Disease or Syndrome
The multiple types of congenital heart defects observed in CHTD4 include atrial, ventricular, and atrioventricular septal defects, double-outlet right ventricle, tetralogy of Fallot, hypoplastic left heart syndrome, aortic stenosis, and coarctation of the aorta. Intrafamilial variability and incomplete penetrance has been reported (Al Turki et al., 2014; Qiao et al., 2018). Some patients exhibit syndromic features such as developmental delay, congenital diaphragmatic hernia, and severe gastroesophageal reflux (High et al., 2016; Upadia et al., 2018).
For a discussion of genetic heterogeneity of multiple types of congenital heart defects, see CHTD1 (306955).
Cardiomyopathy, familial hypertrophic, 28- MedGen UID:
- 1779612
- •Concept ID:
- C5543616
- •
- Disease or Syndrome
Familial hypertrophic cardiomyopathy-28 (CMH28) is characterized by asymmetric septal hypertrophy, atrial fibrillation and nonsustained ventricular tachycardia, and risk of sudden death. Dyspnea is the most common symptom, but more than half of affected individuals are asymptomatic. Hypertrabeculation of the left ventricle with noncompaction has been observed in some patients (Ochoa et al., 2018).
For a general phenotypic description and discussion of genetic heterogeneity of familial hypertrophic cardiomyopathy, see CMH1 (192600).
Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies- MedGen UID:
- 1824081
- •Concept ID:
- C5774308
- •
- Disease or Syndrome
Hypertrophic cardiomyopathy-29 (CMH29) is characterized by recurrent syncope, dyspnea on exertion, and palpitations. The clinical phenotype is associated with a poor prognosis due to lethal arrhythmias and cardiac failure. Cardiac muscle biopsies show intermyofibrillar accumulation of glycogen and polyglucosan bodies within cardiomyocytes, and skeletal muscle accumulation of glycogen has also been observed (Hedberg-Oldfors et al., 2019).
For a general phenotypic description and discussion of genetic heterogeneity of hypertrophic cardiomyopathy, see CMH1 (192600).