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Items: 9

1.

Autosomal recessive limb-girdle muscular dystrophy type 2C

A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported. [from ORDO]

MedGen UID:
98045
Concept ID:
C0410173
Disease or Syndrome
2.

Cutis laxa, autosomal recessive, type 1B

EFEMP2-related cutis laxa, or autosomal recessive cutis laxa type 1B (ARCL1B), is characterized by cutis laxa and systemic involvement, most commonly arterial tortuosity, aneurysms, and stenosis; retrognathia; joint laxity; and arachnodactyly. Severity ranges from perinatal lethality as a result of cardiopulmonary failure to manifestations limited to the vascular and craniofacial systems. [from GeneReviews]

MedGen UID:
482428
Concept ID:
C3280798
Disease or Syndrome
3.

Atrial fibrillation, familial, 10

Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997). For a discussion of genetic heterogeneity of atrial fibrillation, see 608583. [from OMIM]

MedGen UID:
462814
Concept ID:
C3151464
Disease or Syndrome
4.

Chromosome 6q24-q25 deletion syndrome

6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss. [from ORDO]

MedGen UID:
461565
Concept ID:
C3150215
Disease or Syndrome
5.

Arrhythmogenic right ventricular dysplasia 13

Arrhythmogenic right ventricular cardiomyopathy/dysplasia-13 (ARVD13) is characterized by progressive fibrofatty myocardial replacement, primarily of the right ventricle. The main clinical features are structural and functional abnormalities of the ventricles, electrocardiographic depolarization/repolarization changes, reentrant arrhythmias, and sudden death (summary by van Hengel et al., 2013). [from OMIM]

MedGen UID:
816468
Concept ID:
C3810138
Disease or Syndrome
6.

VISS syndrome

VISS syndrome is a generalized connective tissue disorder characterized by early-onset thoracic aortic aneurysm and other connective tissue findings, such as aneurysm and tortuosity of other arteries, joint hypermobility, skin laxity, and hernias, as well as craniofacial dysmorphic features, structural cardiac defects, skeletal anomalies, and motor developmental delay (Van Gucht et al., 2021). Immune dysregulation has been observed in some patients (Ziegler et al., 2021). [from OMIM]

MedGen UID:
1794165
Concept ID:
C5561955
Disease or Syndrome
7.

Arrhythmogenic right ventricular dysplasia, familial, 14

Arrhythmogenic right ventricular cardiomyopathy/dysplasia-14 (ARVD14) is characterized by palpitations, chest pain, and presyncope. Electrocardiography shows epsilon waves, T-wave inversion across anterior leads, premature ventricular contractions, ventricular tachycardia, and left bundle branch block. Dilation of the right ventricle with hypokinesia and aneurysmal changes are seen on echocardiography. Cardiac MRI may show fibrofatty infiltration, which has been confirmed by endocardial biopsy in some patients. Sudden death may occur (Mayosi et al., 2017). For a discussion of genetic heterogeneity of ARVD, see ARVD1 (107970). [from OMIM]

MedGen UID:
1712001
Concept ID:
C5394505
Disease or Syndrome
8.

Immunodeficiency 93 and hypertrophic cardiomyopathy

Immunodeficiency-93 and hypertrophic cardiomyopathy (IMD93) is an autosomal recessive disorder characterized by onset of recurrent viral and bacterial infections, particularly with encapsulated bacteria, and hypertrophic cardiomyopathy in the first months or years of life. Immunologic workup typically shows decreased circulating B cells and hypo- or agammaglobulinemia, sometimes with neutropenia or T-cell lymphocytosis, although laboratory findings may be variable among patients. Ig replacement therapy is beneficial. Cardiac involvement can also include atrial septal defect, valvular insufficiency, and pre-excitation syndrome. Rare myopathic or neurologic involvement has been reported, but these features are not consistently part of the disorder and may be related to other genetic defects (summary by Niehues et al., 2020 and Saettini et al., 2021). [from OMIM]

MedGen UID:
1804175
Concept ID:
C5676899
Disease or Syndrome
9.

Right ventricular dilatation

Enlargement of the chamber of the right ventricle, which can be defined echocardiographically as a right ventricular to left ventricular ratio greater than 1:1. [from HPO]

MedGen UID:
138012
Concept ID:
C0344893
Congenital Abnormality
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