Cardiomyopathy Presentations

a temporary, reversible heart condition where the left ventricle weakens, often triggered by extreme emotional or physical stress

Takotsubo

abnormal protein folding, deposition, and buildup in the heart. this prevents the heart from functioning properly causing arrhythmias and HF

cardiac amyloidosis

granulomatous inflammation of the myocardium that can lead to issues such as inflammation and scarring. this disease can also affect the heart’s electrical conduction.

cardiac sarcoidosis

a gradual, uncommon condition where the heart muscle in the RV turns into fatty or fibrous tissue. this tissue change can increase the risk of arrhythmias and SCD

ARVC

a rare, inherited primary heart muscle disease caused by genetic defects that impair ATP production. It causes structural changes like hypertrophic or dilated cardiomyopathy, resulting in heart failure or fatal arrhythmias

mitochondrial CM

a serious, often chronic infection caused by the parasite Trypanosoma cruzi that leads to severe heart disease in roughly 30% of infected individuals. It causes chronic inflammation, resulting in cardiac fibrosis, dilated cardiomyopathy, arrhythmias, heart failure, and sudden death

Chagas disease

a rare disease that can cause abnormal rhythms in the ventricles due to mutations in the cardiac sodium channels (primarily SCN5A) that can lead to SCD particularly in middle-aged men

Brugada syndrome

these patients experience ARVC which can lead to arrhythmias and heightened SCD risk. this is an autosomal recessive genetic defect that affects plakoglobin, a protein crucial for cell to cell adhesion in heart muscle

Naxos disease

mutation in MLNA gene which produces Lamin A and Lamin C. this leads to a weakened nuclear envelope and impaired chromatin tethering, which can ultimately lead to DCM and HF

Lamin AC diseae

involves two major patterns: DCM with HF, and arrhythmias due to conduction system disease. pattern and severity of cardiac involvement is determined by the specific type

myotonic and non-lamin muscular dystrophies

distinct electrical disorders characterized by genotype defects. triggered by strenuous exercise, sudden auditory/emotional stress, or caused by gain of function in the Na+ channels leading to arrhythmias during rest, sleep, or bradycardia. put individuals at risk of triggered syncope, TdP, and SCD

long-QT types 1, 2, and 3

these are less common with 4-8 being genetic (primary) and 9-13 being acquired (secondary); a second syndrome is an inherited electrical dysfunction that increases the chance of arrhythmias

long QT 4-13 and short QT

weakness of heart muscle that does not come from any other cause. happens in the last month of pregnancy or within five months after delivery. leads to HF and can be fatal. symptoms include fatigue, palpitations, and SOB

peri and post partum CMs

a serious, chronic condition characterized by high blood pressure in the lung arteries, causing them to narrow and thicken. This strains the right side of the heart, leading to fatigue, chest pain, and severe shortness of breath

pulmonary hypertension

a common congenital heart defect (affecting 1–2% of the population) where the aortic valve has two leaflets instead of three. This can cause the valve to narrow (stenosis) or leak (regurgitation), requiring lifelong monitoring.

bicuspid aortic valve

a serious, progressive heart condition where the aortic valve narrows, restricting blood flow from the heart to the body. Often caused by age-related calcium buildup or congenital defects, it forces the heart to work harder, leading to symptoms like chest pain, fatigue, and shortness of breath

aortic stenosis

an acute, temporary illness causing inflammation of blood vessels (vasculitis), primarily affecting children under five. It is the leading cause of acquired heart disease in children in developed nations, requiring urgent treatment to prevent permanent coronary artery damage

Kawasaki disease

common congenital heart defects involving inappropriate communication between the R and L side of the heart in the septum. small usually close on their own, but larger require closure

ASDs and VSDs

a genetic disorder affecting connective tissue, often causing tall stature, long limbs, and serious cardiovascular issues like aortic enlargement. It is caused by a mutation in the gene, typically inherited in an autosomal dominant pattern

Marfan syndrome

congenital heart defects where the great arteries are switched. surgery required for one to fix parallel circuits, but the other can go undetected for many decades

L-TGA and D-TGA

a combination of four heart changes present at birth. There is a ventricular septal defect. There also is a narrowing of the pulmonary valve. Shifting of the aorta near VSD. RV hypertrophy

tetralogy of Fallot

a surgery procedure that creates a pathway for blood to flow from the body to the lungs without the use of the RV. typically performed in children with hypoplastic left heart syndrome (HLHS)

Fontan circulation

abnormal growths that develop in the heart’s tissues or on its lining, and they can be primary (originating the heart) or secondary (metastatic spreading from other organs). although rare, may disrupt normal heart function by obstruction BF, affecting rhythms, or causing embolic events

cardiac tumors

disorder of the autonomic NS characterized by an exaggerated tacy response of greater than 30bpm/min when standing up (within 10 minutes). the most common form of it and little research; no known cause or cure, just management of symptoms

POTS and dysautonomia

an emerging subspecialty focusing on the impact of inflammation on the cardiovascular system, particularly managing high heart disease risks in patients with autoimmune diseases like lupus and rheumatoid arthritis

cardio-rheumatology

a complete replacement and the heart is placed in the same position as the original heart

orthotopic transplantation

the original heart is left inside the body and donor heart is attached so both hearts work together; donor heart adds additional support

heterotopic transplantation

a dangerous weakening and bulging in the main blood vessel (aorta) supplying blood to the lower body, occurring mostly in men over 65. Often asymptomatic until they rupture

abdominal aortic aneurysum

weakening of the myocardium as a result of cancer treatments. different kinds and dosages, as well as history of CM can cause increased severity or prolonged duration of CM

chemo-induced CM

inflammation of the cardiac myocardium caused by viral infection along with immune-mediated injury in rare cases which can cause DCM, arrhythmias, HF, and SCD

viral myocarditis

life-threatening defect where the pulmonic valve is so narrow that it obstructs BF from RV to PA and lungs

critical pulmonary stenosis