Congestive heart failure, and Bradycardia

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 SICK SINUS SYNDROME 2; SSS2

SICK SINUS SYNDROME 2; SSS2 Is also known as atrial fibrillation with bradyarrhythmia|sick sinus syndrome 2 with or without cardiac noncompaction and/or ascending aorta dilation|sinus node disease, familial, autosomal dominant|sinus bradycardia syndrome, familial, autosomal dominant

• Intellectual disability
• Brachydactyly
• Fatigue
• Congestive heart failure
• Abnormality of cardiovascular system morphology

SOURCES: OMIM MESH 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 SUDDEN CARDIAC FAILURE, INFANTILE; SCFI

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

SOURCES: OMIM MENDELIAN

Medium match NEONATAL SEVERE CARDIOPULMONARY FAILURE DUE TO MITOCHONDRIAL METHYLATION DEFECT

Combined oxidative phosphorylation deficiency-28 (COXPD28) is a complex autosomal recessive multisystem disorder associated with mitochondrial dysfunction. The phenotype is variable, but includes episodic metabolic decompensation beginning in infancy that can result in mild muscle weakness, cardiorespiratory insufficiency, developmental delay, or even death. Biochemical studies of patient tissues show variable mitochondrial defects, including decreased activities of respiratory chain enzymes (summary by Kishita et al., 2015).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

NEONATAL SEVERE CARDIOPULMONARY FAILURE DUE TO MITOCHONDRIAL METHYLATION DEFECT Is also known as combined oxidative phosphorylation defect type 28|coxpd28

• Global developmental delay
• Generalized hypotonia
• Muscle weakness
• Pain
• Hypertension

SOURCES: OMIM ORPHANET 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

Medium match FATAL CONGENITAL HYPERTROPHIC CARDIOMYOPATHY DUE TO GLYCOGEN STORAGE DISEASE

FATAL CONGENITAL HYPERTROPHIC CARDIOMYOPATHY DUE TO GLYCOGEN STORAGE DISEASE Is also known as fatal congenital hypertrophic cardiomyopathy due to glycogenosis|fatal congenital hypertrophic cardiomyopathy due to gsd|phosphorylase kinase deficiency of heart|glycogen storage disease of heart

• Seizures
• Generalized hypotonia
• Failure to thrive
• Micrognathia
• Abnormal facial shape

SOURCES: OMIM MESH ORPHANET MENDELIAN

Medium match MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY

Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.

MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY Is also known as cardiomyopathy, infantile hypertrophic mitochondrial, and lactic acidosis|coxpd10|combined oxidative phosphorylation defect type 10

• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia
• Ataxia

SOURCES: ORPHANET OMIM MENDELIAN