Common Causes |
Arterial |
5% to 10% secondary causes |
ECG: LVH; ECHO: LVH concentric |
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hypertension |
Fundoscopic changes |
Genetics: useless |
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Lost nocturnal dip |
Other: identification of secondary causes |
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Aortic stenosis |
Slow-rising pulse |
ECG: LVH; ECHO: LV/AO gradient, valve area |
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Ejection systolic murmur |
Cardiac MRI: morphology and valve area |
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↓ S2 |
Genetics: useless |
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Laboratory: nonspecific |
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Obesity |
Body mass index |
ECG: LVH (≈ 10%); ECHO: LVH concentric epicardial fat |
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Waist circumference |
Cardiac MRI: useful if poor acoustic window |
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LVH regression with weight loss |
Genetics: monogenic defects, eg, leptin deficit |
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Other: endocrine causes |
Physiologic LVH |
Athletic heart |
High level of endurance training |
ECG: LVH; ECHO: mild LVH (= 13 mm), LV dilatation, |
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Resting bradycardia |
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without diastolic dysfunction or longitudinal |
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LVH regression with deconditioning |
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dysfunction |
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Cardiac MRI: no late gadolinium enhancement |
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Genetics: useless |
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Other: VO2max = predicted |
Sarcomeric protein |
Hypertrophic |
Family history (population prevalence |
ECG: LVH, T-wave inversion in the anterior wall (apical |
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disease |
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cardiomyopathy |
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1: 500) |
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variant) |
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1st cause of sudden death in young |
ECHO: asymmetric LVH (+ common), systolic anterior |
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athletes |
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motion of mitral valve, dynamic LV outflow tract |
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Risk stratification for sudden cardiac |
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obstruction |
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death |
Cardiac MRI: intramyocardial delayed enhancement |
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diffuse |
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Genetics: autosomal dominant |
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Histology: myofibrillar disarray, fibrosis, small vessel |
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disease |
Myocardial infiltration |
Amyloidosis |
Senile amyloidosis frequent (≈20% |
ECG: low voltage QRS complex, AV block, AF; ECHO: |
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with >80 years). Multisystem |
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LVH, atrial dilation, LV systolic function preserved, LV |
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involvement: proteinuria, |
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granular appearance, restrictive physiology |
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petechiae, hepatosplenomegaly, |
Cardiac MRI: global subendocardial late gadolinium |
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autonomic and peripheral |
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enhancement |
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neuropathy, macroglossia |
Genetics: in familial amyloidosis autosomal dominant |
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AL amyloidosis—increased cardiac |
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(transthyretin) |
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involvement |
Biopsy: Congo red positive |
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Hemochromatosis |
Late presentation in females |
ECG: LVH; ECHO: LVH, cavities dilation, restrictive |
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Transfusion overload |
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pattern |
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Clinical picture includes bronze skin, |
Cardiac MRI: rapid signal decay (<20 milliseconds) on T2, |
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arthritis, diabetes, and liver |
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can guide the need for phlebotomy or chelation |
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cirrhosis |
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therapy |
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Genetics: HFE gene (autosomal recessive) |
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Other: iron kinetic |
Unclassified |
Left ventricular |
Familial in up to 25% of cases |
ECG: LVH, supraventricular arrhythmias |
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cardiomyopathies |
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noncompaction |
Also observed in other |
ECHO: NC/C ratio >2:1. Doppler color: deep perfused |
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cardiomyopathies |
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intertrabecular sinuses |
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Typical presentation with triad of |
Cardiac MRI: tendency to overdiagnosis |
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palpitations, thromboembolism, |
Genetics: autosomal dominant (familial cases) |
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and/or heart failure |
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Metabolic diseases |
Fabry disease |
Lysosomal storage disease |
ECG: LVH, short PR (early stages), heart block (late |
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α-galactosidase deficiency |
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stages) |
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Multisystemic disease |
ECHO: concentric LVH, right ventricular, and papillary |
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Enzyme replacement therapy |
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muscles hypertrophy are common |
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available |
Cardiac MRI: late enhancement in inferoposterior wall |
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(spares subendocardium) |
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Genetics: X-linked transmission |
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Lab: proteinuria and increased serum creatinine |
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Pompe disease |
Glycogen storage disease (type II) |
ECG: LVH, short PR (early stages), accessory pathways |
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Acid maltase deficiency |
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(rare in late onset forms) |
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Early onset: survival beyond 1 year |
ECHO: concentric LVH, restrictive physiology (rare in |
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unusual |
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late onset forms) |
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Late onset: after 1 year of age can |
Cardiac MRI: nonspecific |
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occur in adulthood (rare cardiac |
Genetics: autosomal recessive |
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involvement) |
Lab: ↑ serum CPK, no fasting hypoglycemia, muscle |
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Limb-girdle myopathy and |
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biopsy |
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respiratory muscles weakness |
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Enzyme replacement therapy available |
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Danon disease |
Lysosomal glycogen storage disease: |
ECG: LVH, short PR, accessory pathways |
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LAMP2 deficiency (lysosomal |
ECHO: concentric LVH with restrictive physiology |
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membrane transporter protein) |
Cardiac MRI: nonspecific |
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Males present in childhood, females |
Genetics: X-linked dominant |
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in early adulthood |
Lab: ↓ LAMP2 activity |
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Myopathy and mental retardation |
muscle biopsy |
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PRKAG2 |
Lysosomal glycogen storage disease |
ECG: LVH, short PR, accessory pathways |
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AMP-activated protein kinase γ2 |
ECHO: concentric LVH with restrictive physiology |
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gene mutation |
Cardiac MRI: nonspecific |
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Multisystem involvement rare |
Genetics: autosomal dominant |
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Primary carnitine |
Fatty acid oxidation disorder |
ECG: LVH |
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deficiency |
Functional carnitine transporter |
ECHO: concentric LVH with restrictive physiology |
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deficiency |
Cardiac MRI: nonspecific |
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Most frequent presentation in infancy |
Genetics: autosomal recessive |
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Myopathy, hepatomegaly, abnormal |
Lab: hypoglycemia, hyperammonemia |
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fatty acid metabolism |
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Mitochondrial |
Kayers Sayer |
Myopathy and mitochondrial disease |
ECG: LVH |
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myopathies |
MERRF syndrome |
Heart: LVH and arrhythmias |
ECHO: concentric LVH with restrictive physiology |
Multiple varieties |
MELAS syndrome |
Neurological: ataxia, stroke, |
Cardiac MRI: nonspecific |
(examples) |
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ophthalmoplegia, ptosis, |
Genetics: mitochondrial DNA mutations |
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nystagmus, retinitis pigmentosa |
Muscle biopsy: typical ragged red fibers |
Syndromic |
Noonan |
Common: 1:1000 live births |
ECG: LVH |
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conditions |
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Facial dysmorphia |
ECHO: LVH, pulmonary stenosis, septal defects |
Multiple varieties |
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Short stature |
Cardiac MRI: nonspecific |
(examples) |
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Genetics: autosomal dominant or sporadic (mutations |
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involving growth hormone proteins) |
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Friedreich ataxia |
Rare: 1: 135 000 live births |
ECG: LVH |
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Ataxia, dysarthria, diabetes, motor |
ECHO: LVH |
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neuropathy |
Cardiac MRI: nonspecific |
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Genetics: autosomal recessive (involving proteins |
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associated with mitochondrial iron metabolism) |