Congestive heart failure, and Elevated serum creatine phosphokinase

Diseases related with Congestive heart failure and Elevated serum creatine phosphokinase

In the following list you will find some of the most common rare diseases related to Congestive heart failure and Elevated serum creatine phosphokinase that can help you solving undiagnosed cases.


Top matches:

Medium match CARDIOMYOPATHY, DILATED, 1L; CMD1L


Dilated cardiomyopathy, a disorder characterized by cardiac dilation and reduced systolic function, represents an outcome of a heterogeneous group of inherited and acquired disorders. For background and phenotypic information on dilated cardiomyopathy, see CMD1A (OMIM ).

Related symptoms:

  • Cardiomyopathy
  • Congestive heart failure
  • Elevated serum creatine phosphokinase
  • Dilated cardiomyopathy
  • Sudden cardiac death


SOURCES: MESH OMIM MENDELIAN

More info about CARDIOMYOPATHY, DILATED, 1L; CMD1L

Medium match CARDIOMYOPATHY, DILATED, 1II; CMD1II


Related symptoms:

  • Cataract
  • Cardiomyopathy
  • Congestive heart failure
  • Elevated serum creatine phosphokinase
  • Dilated cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about CARDIOMYOPATHY, DILATED, 1II; CMD1II

Medium match CARDIOMYOPATHY, DILATED, 3B; CMD3B


CARDIOMYOPATHY, DILATED, 3B; CMD3B Is also known as xlcm|cardiomyopathy, dilated, x-linked

Related symptoms:

  • Pain
  • Cardiomyopathy
  • Congestive heart failure
  • Elevated serum creatine phosphokinase
  • Dilated cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about CARDIOMYOPATHY, DILATED, 3B; CMD3B

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Other less relevant matches:

Medium match CARDIOMYOPATHY, DILATED, 1X; CMD1X


CARDIOMYOPATHY, DILATED, 1X; CMD1X Is also known as cardiomyopathy, dilated, with mild or no proximal muscle weakness

Related symptoms:

  • Seizures
  • Cardiomyopathy
  • Congestive heart failure
  • Elevated serum creatine phosphokinase
  • Dyspnea


SOURCES: OMIM MESH MENDELIAN

More info about CARDIOMYOPATHY, DILATED, 1X; CMD1X

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


Autosomal recessive limb-girdle muscular dystrophy type 2W is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadraparesis, calf hypertrophy, triangular tongue, and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2W Is also known as lgmd2w

Related symptoms:

  • Muscle weakness
  • Skeletal muscle atrophy
  • Talipes equinovarus
  • Cardiomyopathy
  • Elevated serum creatine phosphokinase


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2W

Medium match EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT; EDMD5


Related symptoms:

  • Muscle weakness
  • Ptosis
  • Respiratory insufficiency
  • Cardiomyopathy
  • Congestive heart failure


SOURCES: OMIM MENDELIAN

More info about EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT; EDMD5

Medium match HYPOKALEMIC PERIODIC PARALYSIS


Hypokalemic periodic paralysis (hypoPP) is characterised by episodes of muscle paralysis lasting from a few to 24-48 hours and associated with a fall in blood potassium levels.

HYPOKALEMIC PERIODIC PARALYSIS Is also known as westphall disease

Related symptoms:

  • Paralysis
  • EMG abnormality
  • Myotonia
  • Mildly elevated creatine phosphokinase
  • Adrenocortical adenoma


SOURCES: ORPHANET MENDELIAN

More info about HYPOKALEMIC PERIODIC PARALYSIS

Medium match MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE; MSMB


MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE; MSMB Is also known as myopathy, hyaline body, autosomal recessive

Related symptoms:

  • Short stature
  • Scoliosis
  • Muscle weakness
  • High palate
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE; MSMB

Medium match MALIGNANT HYPERTHERMIA OF ANESTHESIA


Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat.

MALIGNANT HYPERTHERMIA OF ANESTHESIA Is also known as hyperthermia of anesthesia

Related symptoms:

  • Fever
  • Metabolic acidosis
  • Muscle stiffness
  • Ventricular tachycardia
  • Tachypnea


SOURCES: ORPHANET MENDELIAN

More info about MALIGNANT HYPERTHERMIA OF ANESTHESIA

Medium match CONGENITAL MUSCULAR DYSTROPHY DUE TO LMNA MUTATION


Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported.

CONGENITAL MUSCULAR DYSTROPHY DUE TO LMNA MUTATION Is also known as mdcl|lmna-related congenital muscular dystrophy|l-cmd

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY DUE TO LMNA MUTATION

Top 5 symptoms//phenotypes associated to Congestive heart failure and Elevated serum creatine phosphokinase

Symptoms // Phenotype % cases
Cardiomyopathy Common - Between 50% and 80% cases
Dilated cardiomyopathy Common - Between 50% and 80% cases
Proximal muscle weakness Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Muscular dystrophy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Congestive heart failure and Elevated serum creatine phosphokinase. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Skeletal muscle atrophy Respiratory insufficiency

Rare Symptoms - Less than 30% cases


Scapular winging Limb muscle weakness EMG abnormality Progressive muscle weakness Talipes equinovarus Mildly elevated creatine phosphokinase Calf muscle hypertrophy Congenital muscular dystrophy Arrhythmia Myopathy Abnormal EKG Reduced ejection fraction Reduced systolic function Severely reduced ejection fraction Ventricular tachycardia Sudden cardiac death Acute kidney injury Hypercapnia Cardiomyocyte mitochondrial proliferation Abnormality of masseter muscle Muscle stiffness High-output congestive heart failure Abnormality of skeletal muscles Tachypnea Intermittent painful muscle spasms Necrotizing myopathy Elevated creatine kinase after exercise Exercise-induced rhabdomyolysis Malignant hyperthermia Acute rhabdomyolysis Supraventricular tachycardia Generalized hypotonia Acute hepatic failure Hyperphosphatemia Abnormality of the coagulation cascade Ventricular extrasystoles Myoglobinuria Hyperkalemia Global developmental delay Seizures Growth delay Limitation of joint mobility Limb-girdle muscle weakness Neck muscle weakness Spinal rigidity Generalized amyotrophy Cachexia Poor head control Respiratory insufficiency due to muscle weakness Severe muscular hypotonia Myocardial infarction Decreased fetal movement Talipes Failure to thrive Joint hyperflexibility Abnormality of the foot Narrow chest Hyperlordosis Gait disturbance Motor delay Feeding difficulties Flexion contracture Muscular hypotonia Fever Metabolic acidosis Reduced vital capacity Scapuloperoneal weakness Triangular tongue Myotonia Paralysis Proximal amyotrophy Left ventricular hypertrophy Ventricular hypertrophy Cataract Tachycardia Mitral regurgitation Ptosis Increased connective tissue Abnormality of muscle fibers Progressive proximal muscle weakness Limb-girdle muscular dystrophy Tetraparesis Macroglossia Pain Chest pain Myocardial fibrosis Abnormal left ventricle morphology Myocardial necrosis Moderately reduced ejection fraction Adrenocortical adenoma Postprandial hyperglycemia Civatte bodies Respiratory failure Scapuloperoneal amyotrophy Dyspnea Type 1 muscle fiber predominance Centrally nucleated skeletal muscle fibers Myopathic facies EMG: myopathic abnormalities Long face Lower limb muscle weakness Hypertrophic cardiomyopathy High palate Impaired myocardial contractility Scoliosis Short stature Episodic hypokalemia Fatigable weakness of respiratory muscles Episodic flaccid weakness Respiratory paralysis Exercise-induced muscle fatigue Late-onset proximal muscle weakness Increased intramyocellular lipid droplets Periodic hypokalemic paresis Axial muscle weakness



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