Cardiomyopathy, and Bradycardia

High match EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT; EDMD7

Emery-Dreifuss muscular dystrophy is a genetically heterogeneous muscular disease that presents with muscular dystrophy, joint contractures, and cardiomyopathy with conduction defects (summary by Liang et al., 2011).For a discussion of genetic heterogeneity of EDMD, see {310300}.

• Muscle weakness
• Flexion contracture
• Cardiomyopathy
• Arrhythmia
• Proximal muscle weakness

SOURCES: OMIM MENDELIAN

Medium match CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6; CMH6

Mutations in the PRKAG2 gene (OMIM ) give rise to a moderate, essentially heart-specific, nonlysosomal glycogenosis with clinical onset typically in late adolescence or in the third decade of life, ventricular pre-excitation predisposing to supraventricular arrhythmias, mild-to-severe cardiac hypertrophy, enhanced risk of sudden cardiac death in midlife, and autosomal dominant inheritance with full penetrance (summary by Burwinkel et al., 2005).

• Cardiomyopathy
• Arrhythmia
• Hypertrophic cardiomyopathy
• Sudden cardiac death
• Atrial fibrillation

SOURCES: OMIM MENDELIAN

Medium match ATRIAL STANDSTILL

Atrial standstill is a rare cardiac rhythm disease with a few familial and sporadic cases described to date that is characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves.

ATRIAL STANDSTILL Is also known as cardiomyopathy, familial, with conduction disturbance|atrial cardiomyopathy with heart block

• Congestive heart failure
• Dyspnea
• Sudden cardiac death
• Syncope
• Atrial fibrillation

SOURCES: ORPHANET OMIM MENDELIAN

Medium match CARDIOMYOPATHY, DILATED, 1DD; CMD1DD

• Respiratory distress
• Cardiomyopathy
• Congestive heart failure
• Arrhythmia
• Dilated cardiomyopathy

SOURCES: MESH OMIM MENDELIAN

Medium match CARDIOMYOPATHY, DILATED, 1E; CMD1E

CARDIOMYOPATHY, DILATED, 1E; CMD1E Is also known as cdcd2|cardiomyopathy, dilated, with conduction defect 2|cardiomyopathy, dilated, with conduction disorder and arrhythmia

• Cardiomyopathy
• Congestive heart failure
• Arrhythmia
• Dyspnea
• Stroke

SOURCES: MESH OMIM MENDELIAN

Medium match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2X

Autosomal recessive limb-girdle muscular dystrophy type 2X is a rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2X Is also known as autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome|lgmd2x|muscular dystrophy, limb-girdle, type 2x

• Muscle weakness
• Cardiomyopathy
• Arrhythmia
• Elevated serum creatine phosphokinase
• Proximal muscle weakness

SOURCES: OMIM ORPHANET MENDELIAN

Medium match ATRIAL STANDSTILL 2; ATRST2

Atrial standstill (AS) is a rare condition characterized by the absence of electrical and mechanical activity in the atria. On surface ECG, AS is distinguished by bradycardia, junctional (usually narrow complex) escape rhythm, and absence of the P wave. Nearly 50% of patients with AS experience syncope. AS can be persistent or transient, and diffuse or partial (summary by Fazelifar et al., 2005).

ATRIAL STANDSTILL 2; ATRST2 Is also known as cardiomyopathy, atrial dilated, with atrial standstill|atrial dilation and standstill

• Cardiomyopathy
• Congestive heart failure
• Dyspnea
• Scarring
• Stroke

SOURCES: OMIM MENDELIAN

Medium match CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3; RCM3

• Cardiomyopathy
• Hypertrophic cardiomyopathy
• Tachycardia
• Hypotension
• Atrial fibrillation

SOURCES: OMIM MESH MENDELIAN

Medium match SUDDEN CARDIAC FAILURE, INFANTILE; SCFI

• Seizures
• Generalized hypotonia
• Failure to thrive
• Feeding difficulties
• Cardiomyopathy

SOURCES: OMIM MENDELIAN

Medium match FAMILIAL DILATED CARDIOMYOPATHY WITH CONDUCTION DEFECT DUE TO LMNA MUTATION

Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase.

FAMILIAL DILATED CARDIOMYOPATHY WITH CONDUCTION DEFECT DUE TO LMNA MUTATION Is also known as cardiomyopathy, familial idiopathic|cardiomyopathy, idiopathic dilated|cardiomyopathy, dilated, with conduction defect 1|cdcd1|cardiomyopathy, congestive

• Ataxia
• Pain
• Fatigue
• Ventriculomegaly
• Cardiomyopathy

SOURCES: ORPHANET OMIM MENDELIAN