CARDIOMYOPATHIES-by MWEBAZA VICTOR.pptx

S
KAMPALA INTERNATIONAL
UNIVERSITY WESTERN
CAMPUS JINJA SITE
Jinja Regional Referral Hospital
Internal medicine department
JRRHosp
MWEBAZA VICTOR
MBChB 6TH Yr
mwebazavictor1997@gmail.com
SUPREVISOR
DR. MUYINDA ASAAD
3th /FEB/2023
Specialty Cardiology
Symptoms Shortness of breath, feeling tired, swelling
of the legs
Complications Heart failure, irregular heart beat, sudden
cardiac death
Types 1. Hypertrophic cardiomyopathy,
2. dilated cardiomyopathy,
3. restrictive cardiomyopathy,
4. arrhythmogenic right ventricular
dysplasia,
5. takotsubo cardiomyopathy
Causes Unknown, genetic, alcohol, heavy metals,
amyloidosis, stress
Treatment Depends on type and symptoms
Frequency 2.5 million with myocarditis (2015)
Deaths 354,000 with myocarditis (2015)

INTRODUCTION
Definition: Cardiomypathy is a myocardial disorder in
which the heart is structurally and functionally
abnormal in the abscence of coronary artery
disease, hypertention, valvular heart disease
sufficient to explain the observed myocardial
abnormality.
A group of diseases of the myocardium that affect
the mechanical and or electrical function of the
heart.
NHLBI. 22 June 2016. Archived from the original on 15 September 2016. Retrieved 31 August 2016.

CLASSIFICATION
CARDIOMYOPATHIES BY
WHO
1. Dilated cardiomyopathy
2. Hypertrophic cardiomyopathy
3. Restrictive cardiomyopathy
4. Arrhytmogenic cardiomyopathy
5. Unclassified cardiomyopathy

TERMS
Dilated cardiomyopathy (DCM) is one of the main causes
of heart failure.
Hypertrophic cardiomyopathy (HCM) is the most
common inherited cardiomyopathy due to mutations in
numerous genes
Restrictive cardiomyopathy (RCM) is a heart-muscle
disease characterized by stiffness of the ventricular walls leading
to diastolic dysfunction, raised end-diastolic pressure, and
dilated atria.
Types of Cardiomyopathy". NHLBI. 22 June 2016. Archived from the original on 28 July 2016. Retrieved 31
August 2016.

Arrhythmogenic cardiomyopathy (ARCV) is a
pathology characterized by the substitution of the
myocardium by fibrofatty tissue, which determines the
development of arrhythmias, reduced systolic function, and
sudden cardiac death, especially in young patients.
Takotsubo cardiomyopathy, also known as stress-
induced cardiomyopathy or broken-heart syndrome, is
defined as an abrupt onset of left ventricular dysfunction in
response to severe emotional or physiologic stress.
Types of Cardiomyopathy". NHLBI. 22 June 2016. Archived from the original on 28 July 2016. Retrieved 31
August 2016.

Signs and symptoms
Symptoms of cardiomyopathies may include fatigue,
swelling of the lower extremities and shortness of
breath after exertion. Additional symptoms of the
condition may include arrhythmia, fainting, and
dizziness
"What Are the Signs and Symptoms of Cardiomyopathy? - NHLBI, NIH". www.nhlbi.nih.gov. Archived from
the original on 28 July 2016. Retrieved 25 July 2016.

Causes
coronary artery disease, hypertension, or abnormalities of the
heart valves. Often, the underlying cause remains unknown.
Alcoholism, for example, has been identified as a cause of
dilated cardiomyopathy, as has drug toxicity, and certain
infections (including Hepatitis C).
Untreated celiac disease can cause cardiomyopathies,
Lakdawala, NK; Stevenson, LW; Loscalzo, J (2015). "Chapter 287". In Kasper, DL; Fauci, AS; Hauser, SL; Longo, DL; Jameson, JL;
Loscalzo, J (eds.). Harrison's Principles of Internal Medicine (19th ed.). McGraw-Hill. p. 1553. ISBN 978-0-07-180215-4.
Pathophysiology of heart disease : a collaborative project of medical students and faculty. Lilly, Leonard S., Harvard Medical
School. (5th ed.). Baltimore, MD: Wolters Kluwer/Lippincott Williams & Wilkins. 2011. ISBN 978-1605477237.
OCLC 649701807.
Adam A, Nicholson C, Owens L (2008). "Alcoholic dilated cardiomyopathy". Nurs Stand (Review). 22 (38): 42–7.
doi:10.7748/ns2008.05.22.38.42.c6565. PMID 18578120.

Diagnosis
Among the diagnostic procedures done to determine
a cardiomyopathy are:
1. Physical exam
2. Family history
3. Blood test
4. ECG
5. Echocardiogram
6. Stress test
7. Genetic testing
What Are the Signs and Symptoms of Cardiomyopathy? - NHLBI, NIH". www.nhlbi.nih.gov. Archived from the original on 28
July 2016. Retrieved 25 July 2016.

1 . DILATED CARDIOMYOPATHY
Dilated cardiomyopathy is typically characterized by dilatation and
impaired function of one or both ventricles.
Complications can include heart failure, heart valve disease, or an
irregular heartbeat.
This disease can be classified as either primary or secondary DCM.
Primary DCM is considered idiopathic and the diagnosis can only
be made after excluding secondary causes
What Is Cardiomyopathy?". NHLBI. 22 June 2016. Archived from the original on 10 November 2017. Retrieved 10
November 2017.
NHLBI. June 22, 2016. Archived from the original on 28 July 2016. Retrieved 31 August 2016.

Epidemyology and Research
direction of DCM
Epidemiology
Although the disease is more common in African-Americans
than in Caucasians, it may occur in any patient population.
Research directions
Therapies that support reverse remodeling have been
investigated, and this may suggests a new approach to the
prognosis of cardiomyopathies (see ventricular remodeling).
Coughlin SS, Labenberg JR, Tefft MC (March 1993). "Black-white differences in idiopathic dilated cardiomyopathy: the
Washington DC dilated Cardiomyopathy Study". Epidemiology. 4 (2): 165–72. doi:10.1097/00001648-199303000-00013.
PMID 8452906.
Pieske B (2004). "Reverse remodeling in heart failure – fact or fiction?". Eur Heart J Suppl. 6: D66–78.
doi:10.1016/j.ehjsup.2004.05.019.

Causes of idiopathic/primary
DCM
The main causes of idiopathic dilated cardiomyopathy are
genetics.
The genes most involved are:
oTTN gene at chromosome 2 encoding protein titin which
conects actin and myocin
oLMNA gene at chromosome 1 encoding for protein lamins A
and C that assebles to create hetero tetra dimers that stabilize
the internal nuclear laminar
Kayvanpour, Elham; Sedaghat-Hamedani, Farbod; Amr, Ali; Lai, Alan; Haas, Jaan; Holzer, Daniel B.; Frese, Karen S.; Keller,
Andreas; Jensen, Katrin; Katus, Hugo A.; Meder, Benjamin (2016-08-30). "Genotype-phenotype associations in dilated
cardiomyopathy: meta-analysis on more than 8000 individuals". Clinical Research in Cardiology. 106 (2): 127–139.
doi:10.1007/s00392-016-1033-6. PMID 27576561. S2CID 27511518.

oMutations on phospholamban(PLN) and Filamin C (FLNC)
genes
oOther mutations are; Genes of dystrophin (DMD), desmin
(DES), Cardiac isoforms of beta myosin- heavy chain
(MYH7), Troponin T (TNNT2), Troponin 1 (TNNI 3)
Mitchell, Richard Sheppard; Kumar, Vinay; Abbas, Abul K.; Fausto, Nelson (2007). Robbins Basic Pathology (8th ed.).
Philadelphia: Saunders. ISBN 978-1-4160-2973-1.
Ross J (March 2002). "Dilated cardiomyopathy: concepts derived from gene deficient and transgenic animal models". Circ. J.
66 (3): 219–24. doi:10.1253/circj.66.219. PMID 11922267.
Schönberger J, Seidman CE (August 2001). "Many roads lead to a broken heart: the genetics of dilated cardiomyopathy".
American Journal of Human Genetics. 69 (2): 249–60. doi:10.1086/321978. PMC 1235300. PMID 11443548.

Possible causes of secondary
DCM
Dilated cardiomyopathy is probably the result of damage
to the myocardium produced by a variety of toxic,
metabolic, or infectious agents. It may be due to fibrous
change of the myocardium from a previous myocardial
infarction. Or, it may be the late sequelae of acute viral
myocarditis, such as with Coxsackie B virus and other
enteroviruses possibly mediated through an immunologic
mechanism.
Martino TA, Liu P, Sole MJ (February 1994). "Viral infection and the pathogenesis of dilated cardiomyopathy". Circ. Res. 74
(2): 182–8. doi:10.1161/01.res.74.2.182. PMID 8293557.

Other causes include:
1. Chagas disease, due to Trypanosoma cruzi.
2. Pregnancy. DCM occurs late in gestation or several weeks to
months postpartum as a peripartum cardiomyopathy.
3. Alcohol abuse (alcoholic cardiomyopathy)
4. Chemotherapeutic agents, in particular doxorubicin
(Adriamycin), and cobalt.
5. Thyroid disease
6. Inflammatory diseases such as sarcoidosis and connective
tissue diseases
7. Tachycardia-induced cardiomyopathy
8. Muscular dystrophy
9. Tuberculosis - 1 to 2% of TB cases.
10. Autoimmune mechanisms
11. Thiamine deficiency

Pathophysiology of DCM
The progression of heart failure is associated with left
ventricular remodeling, which manifests as:
1. Gradual increases in left ventricular end-diastolic and
end-systolic volumes
2. Wall thinning, and a change in chamber geometry to a
more spherical, less elongated shape.
3. This process is usually associated with a continuous
decline in ejection fraction.
Pieske B (2004). "Reverse remodeling in heart failure – fact or fiction?". Eur Heart J Suppl. 6: D66–78.
doi:10.1016/j.ehjsup.2004.05.019.

Compensation effects
As DCM progresses, two compensatory mechanisms are
activated in response to impaired myocyte contractility and
reduced stroke volume:
1. Frank-Starling law (states that stroke volume increases in
response to an increase in end diastolic volume)
2. Neurohormonal feedback, via activation of the
sympathetic nervous system and the renin-angiotensin
system.
These responses initially compensate for decreased cardiac
output and maintain those with DCM as asymptomatic.
Eventually, however, these mechanisms become detrimental,
intravascular volume becomes too great, and progressive
dilatation leads to heart failure symptoms.
School. (5th ed.). Baltimore, MD: Wolters Kluwer/Lippincott Williams & Wilkins. 2011. ISBN 9781605477237.
OCLC 649701807.

Clinical manifestations of DCM
1. Features of cardiac failure, arrhythmias or emboli
2. Cardiac failure, S3 gallop rhythm
3. Ventrical dilatation leading to functional mitral or
tricupsid valvular regurgitation
School. (5th ed.). Baltimore, MD: Wolters Kluwer/Lippincott Williams & Wilkins. 2011. ISBN 9781605477237.
OCLC 649701807.

Investigations of DCM
o X-ray chest shows "large flask shaped" heart (massive
cardiomegally)
o Echocardiography reveals dilatation of the left ventricle,
dilatation of the right ventricle with poor global
contraction
o ECG shows tachycardia, conduction abnormalities, ST-
segment and T- wave changes, ventricular ectopics
o Cardiac biopsy shows fibrosis and and non specific
leukocyte infiltration

oCardiac catheterization shows left ventricular dilatation and
dysfunction, high end diastolic pressure and low cardiac output
oLaboratory Test:
I. Increased CPK levels can suggest a dystrophin-related disorder,
a laminopathy, or, more rarely, a disease of sarcoglycans,
desminopathy, or a myofibrillar myopathy
II. An increase of TSH levels can suggest endocrinological causes.
III. Other tests (such as HIV, Chagas, Borrelia) can suggest
infectious diseases.
IV. An increase of thiamine levels can suggest alcohol abuse
V. An increase on BNP, renal function level can suggest a
prognostic stratification
Childers R, Lupovich S, Sochanski M, Konarzewska H (2000). "Left bundle branch block and right axis deviation: a report of
36 cases". J Electrocardiol. 33 (Suppl): 93–102. doi:10.1054/jclc.2000.20326. PMID 11265743.

oCardiac MRI can give information on the etiology. In
particular, a late enhancement of gadolinium is present
when there is necrosis or a scar that may indicate the
presence of inflammation.
oCoronary Angiography indicated in the diagnostic work up
as it excludes a possible ischemic etiology
oGenetic Testing to be carried out on family members of
patients with dilated cardiomyopathy
Pennell DJ, Sechtem UP, Higgins CB, Manning WJ, Pohost GM, Rademakers FE, van Rossum AC, Shaw LJ, Yucel EK (Nov 2004).
"Clinical indications for cardiovascular magnetic resonance (CMR): Consensus Panel report". Eur Heart J. 25 (21): 1940–
1965. doi:10.1016/j.ehj.2004.06.040. PMID 15522474.
Pennell DJ, Sechtem UP, Higgins CB, Manning WJ, Pohost GM, Rademakers FE, van Rossum AC, Shaw LJ, Yucel EK (Nov 2004).
"Clinical indications for cardiovascular magnetic resonance (CMR): Consensus Panel report". Eur Heart J. 25 (21): 1940–
1965. doi:10.1016/j.ehj.2004.06.040. PMID 15522474.
Nikolic G, Marriott HJ (Oct 1985). "Left bundle branch block with right axis deviation: a marker of congestive
cardiomyopathy". J Electrocardiol. 18 (4): 395–404. doi:10.1016/s0022-0736(85)80022-4. PMID 3906012.

Management of DCM
Medical therapy
Standard therapy may include salt restriction, ACE inhibitors,
diuretics, and beta blockers. Anticoagulants may also be
used for antithrombotic therapy. There is some evidence for
the benefits of coenzyme Q10 in treating heart failure.
Langsjoen PH, Langsjoen PH, Folkers K (1990). "A six-year clinical study of therapy of cardiomyopathy with coenzyme Q10".
Int J Tissue React. 12 (3): 169–71. PMID 2276895.
Baggio E, Gandini R, Plancher AC, Passeri M, Carmosino G (1994). "Italian multicenter study on the safety and efficacy of
coenzyme Q10 as adjunctive therapy in heart failure. CoQ10 Drug Surveillance Investigators". Mol. Aspects Med. 15 (Suppl):
s287–94. doi:10.1016/0098-2997(94)90040-X. PMID 7752841.

Electrical treatment
Artificial pacemakers may be used in patients with
intraventricular conduction delay, and implantable
cardioverter-defibrillators in those at risk of arrhythmia.
These forms of treatment have been shown to prevent
sudden cardiac death, improve symptoms, and reduce
hospitalization in patients with systolic heart failure.
Surgical treatment
In patients with advanced disease who are refractory to
medical therapy, heart transplantation may be considered.
McPhee, Stephen J.; Rabow, Michael W.; Papadakis, Maxine A. (2016-09-01). Current medical diagnosis & treatment 2017.
Papadakis, Maxine A.,, McPhee, Stephen J.,, Rabow, Michael W. (Fifty-sixth ed.). New York. ISBN 978-1259585111.
OCLC 957316517.

2 . HYPERTROPHIC CARDIOMYOPATHY
(HCM)
Definition: A cardiomyopathy with a wall thickness of > 15mm in
one or more myocardial segment This results in the heart being
less able to pump blood effectively.
Characterized by hypertrophy, particularly of the left ventricle in
abscess of overload conditions.
HCM is most commonly inherited from a person's parents. It is
often due to mutations in certain genes involved with making
heart muscle proteins.
Types of ". NHLBI. 22 June 2016. Archived from the original on 4 October 2017. Retrieved 10 November 2017.
What Causes Cardiomyopathy?". NHLBI. 22 June 2016. Archived from the original on 5 October 2017. Retrieved 10
November 2017.

Prevalence
Reported to be 1:500 (0.2%) by echocardiogram which is of
low sensitivity when compared to MRI therefore this may be
an underestimate.
@DID YOU KNOW
In July 2013, Rigo, a 42-year-old western lowland gorilla, resident
in Melbourne Zoo and father of Mzuri, the first gorilla born by
artificial insemination, died unexpectedly as a result of HCM. The
condition is not uncommon in male gorillas over the age of 30, and
in many cases, there is no sign of the disease until the individual's
sudden death.
Smith, Bridie (2013-07-26). "Silverback gorilla Rigo died of heart failure at Melbourne Zoo". The Age. Archived from the
original on 2017-01-03. Retrieved 2013-07-26.

Causes of HCM
Genetical mutations. In about 40% of HCM patients, the
causal genes remain unidentified.
The genes most involved are:
oMYBPC3 gene which encodes cardiac myosin-binding
protein C of the intermediate filament. It is the most
common gene involved, representing up to 40% of
mutations .
oMYH7 gene. Encodes beta-myosin heavy chain of thick
filament. It is present in about 15–25% of patients with
HCM

oTNNT2 gene . This encodes cardiac muscle troponin T of thin
filament. It represents 5–10% of cases
oTNNI3 gene . This encodes cardiac troponin I of thin filament
and is present in 4–8% of cases
Rare genes involved are:
1. MYL2 gene
2. MYL3 gene
3. TPM1 gene
4. ACTC1 gene
Cirino AL, Ho C (2014). "Hypertrophic Cardiomyopathy Overview". In Adam MP, Ardinger HH, Pagon RA, Wallace
SE, Bean LJ, Stephens K, Amemiya A (eds.). GeneReviews. University of Washington, Seattle. PMID 20301725.
Doolan G, Nguyen L, Chung J, Ingles J, Semsarian C (August 2004). "Progression of left ventricular hypertrophy and the
angiotensin-converting enzyme gene polymorphism in hypertrophic cardiomyopathy". International Journal of Cardiology.
96 (2): 157–63. doi:10.1016/j.ijcard.2004.05.003. PMID 15314809.
Marian AJ, Yu QT, Workman R, Greve G, Roberts R (October 1993). "Angiotensin-converting enzyme polymorphism in
hypertrophic cardiomyopathy and sudden cardiac death". Lancet. 342 (8879): 1085–6. doi:10.1016/0140-6736(93)92064-Z.
PMID 8105312. S2CID 39088276.

Associations
1. Nooman syndrome: Genetic disorder that prevents
normal development in various parts of the body, these
can include unusual facial characteristics, short stature,
heart defects etc
2. Friedreich's ataxia a genetic disease that result in difficult
walking, loss of sensation and impaired speech that
worsen over time
3. Glycogen storage disease
4. Mitochondrial myopathies

Clinical manifestations of HCM
Many patients with HCM have no or only minor symptoms
throughout life.
Dyspnea on exertion, as a symptom of heart failure (HF), is present
in more than 90% of symptomatic patients. Typical chest pain on
exertion occurs in 25 to 30% of patients with HCM.
Syncopal episodes occur in about 15–25% of patients with HCM.
Another 20% of these patients report pre-syncope episodes HCM
can present with both supraventricular and ventricular
arrhythmias which can appear to the patients as palpitations
Murphy, Joseph G.; Lloyd, Margaret A. (2007). Mayo Clinic Cardiology Concise Textbook and Mayo Clinic Cardiology Board
Review Questions & Answers: (TEXT AND Q&A SET). CRC Press. p. 1159. ISBN 9781439825457. Archived from the original on
2018-10-23. Retrieved 2018-10-22.

Investigations of HCM
oX-ray chest; Heart not greatly enlarged
oECG demonstrates left ventricular hypertrophy, large Q wave
in 20-50% of patients in leads II, III, aVF or V2- V6, left axis
deviation
oEchocardiography shows;
1. Asymmetric left ventricular hypertrophy
2. Systolic anterior motion (SAM) of anterior leaflet of MV
3. Small left ventricular cavity size
4. Dilated left atrium
5. Left ventricular diastolic dysfunction

oCardiac catheterization shows;
1. Small hyper contractile left ventricle
2. Dynamic left ventricular outflow obstruction
3. Diastolic dysfunction
Gollob MH, Blier L, Brugada R, Champagne J, V, Connors S, et al. (2011). "Recommendations for the use of genetic testing in
the clinical evaluation of inherited cardiac arrhythmias associated with sudden cardiac death: Canadian Cardiovascular
Society/Canadian Heart Rhythm Society joint position paper". The Canadian Journal of Cardiology. 27 (2): 232–45.
doi:10.1016/j.cjca.2010.12.078. PMID 21459272.
Amano Y, Kitamura M, Takano H, Yanagisawa F, Tachi M, Suzuki Y, et al. (April 2018). "Cardiac MR Imaging of Hypertrophic
Cardiomyopathy: Techniques, Findings, and Clinical Relevance". Magnetic Resonance in Medical Sciences. 17 (2): 120–131.
doi:10.2463/mrms.rev.2017-0145. PMC 5891337. PMID 29343659.

Management of HCM
For asymptomatic patients (40% of HCM), MX is
conservative.
No medication needed but periodic followup for
disease evolution is important
For left ventricular outflow tract obstruction (LVOTO)
manifesting with signs of HF, first treatment is, Beta
blockers
o If beta blockers are not tolerated calcium channel
blockers (verapamil and diltiazem)

Weight loss has to be encouraged
Hypovolemia to be avoided, in this case vasodilators and
diueretics are contraindicated
SURGICAL MGT
oLVOTO first choice of treatment is septal myomectomy
(Morrow procedure)
Second choice is septal alcohol ablation
Behr ER, McKenna WJ (December 2002). "Hypertrophic Cardiomyopathy". Current Treatment Options in
Cardiovascular Medicine. 4 (6): 443–453. doi:10.1007/s11936-002-0039-8. PMID 12408787. S2CID 8041261.

HINT
1. For patients with HCM and HF symptoms but with
no LVOTO (10% of patients), drugs indicated are;
2. Beta blockers, ACE-i
3. low dose loop and thiazide diuretics can also be
used.
4. For patients with AF treatment is like for the general
population coupled with anticoagulant therapy to
prevent thromboembolism

3 . RESTRICTIVE CARDIOMYOPATHY
(RCM)
(RCM) is a disease of heart muscle in which the
ventricles do not appropriately relax and fill despite
relatively normal contraction.
heart muscle disease chacterised by stiffness of the
ventricular wall leading to diastolic dysfunction, raised
end diastolic pressure and dilated atria.
Ventricals are not dilated and there is physiological wall
thickness. Therefore systolic function is usually
preserved
Kouchoukos, Nicholas T.; Blackstone, Eugene H.; Hanley, Frank L.; Kirklin, James K. (2012).
Kirklin/Barratt-Boyes Cardiac Surgery E-Book. Elsevier Health Sciences. p. 803. ISBN 978-1-4557-
4605-7. Archived from the original on 2021-08-29. Retrieved 2021-02-10.

Impairment of the ventricular structure and its systolic
function may occur in the advanced stages of
secondary RCM
Epidemiology
Endomyocardial fibrosis is generally limited to the
tropics and sub-saharan Africa. The highest incidence
of death caused by cardiac sarcoidosis is found in
Japan.
Hulten, Edward; Aslam, Saira; Osborne, Michael; Abbasi, Siddique; Bittencourt, Marcio Sommer;
Blankstein, Ron (February 2016). "Cardiac sarcoidosis—state of the art review". Cardiovascular
Diagnosis and Therapy. 6 (1): 50–63. doi:10.3978/j.issn.2223-3652.2015.12.13. ISSN 2223-3652.
PMC 4731586. PMID 26885492.

Causes of RCM
Infiltrative
o Amyloidosis
o Sarcoidosis
o Primary hyperoxaluria
Storage diseases
o Fabry disease
o Gaucher disease
o Hereditary
hemochromatosis
o Glycogen storage disease
o Mucopolysaccharidosis type
I (Hurler syndrome)
o Mucopolysaccharidosis type
II (Hunter syndrome)
o Niemann-Pick disease
Non-infiltrative
oIdiopathic
oDiabetic cardiomyopathy
oScleroderma
oMyofibrillar myopathies
oPseudoxanthoma elasticum
oSarcomeric protein disorders
oWerner's syndrome
Endomyocardial
oCarcinoid heart disease
oEndomyocardial fibrosis
oIdiopathic
oHypereosinophilic syndrome
oChronic eosinophilic leukemia
oDrugs (serotonin, methysergide,
ergotamine, mercurial agents,
busulfan)
oEndocardial fibroelastosis
oConsequence of cancer or cancer RX
oMetastatic cancer
oDrugs (anthracyclines)
oRadiation

Clinical manifestations of RCM
Those with RCM will experience decreased exercise
tolerance, fatigue, jugular venous distention,
peripheral edema, and ascites. Arrhythmias and
conduction blocks are common.
School. (5th ed.). Baltimore, MD: Wolters Kluwer/Lippincott Williams & Wilkins. 2011. ISBN 978-1605477237.
OCLC 649701807.

Investigations of RCM
o ECG shows; AF, inverted ST segment with notched or
biphasic late peaking T- waves
o Chest radiography showing cardiomegally due to bilateral
atrial enlargement
o Echocardiography with findings of; abscess of ventricular
hypertrophy or dilatation, preserved systolic LV ejection
fraction, bilateral atrial enlargement, diastolic dysfunction.
o MRI provides more detailed information than
echocardiography
oEndocardial biopsy indicated when other tests are
inconclusive, can detect amyloid or iron deposition to
confirm or exclude some secondary RCM

Management of RCM
o Treatment of restrictive cardiomyopathy should
focus on management of causative conditions (for
example, using corticosteroids if the cause is
sarcoidosis), and slowing the progression of
cardiomyopathy. Salt-restriction, diuretics,
angiotensin-converting enzyme inhibitors, and
anticoagulation may be indicated for managing
restrictive cardiomyopathy.
oCalcium channel blockers are generally
contraindicated due to their negative inotropic
effect, particularly in cardiomyopathy caused by
amyloidosis.

oDigoxin, calcium channel blocking drugs and beta-adrenergic
blocking agents provide little benefit, except in the
subgroup of restrictive cardiomyopathy with atrial
fibrillation. Vasodilators are also typically ineffective
because systolic function is usually preserved in cases of
RCM.
oHeart failure resulting from restrictive cardiomyopathy will
usually eventually have to be treated by cardiac
transplantation or left ventricular assist device.
Artz, Gregory; Wynne, Joshua (October 2000). "Restrictive Cardiomyopathy". Current Treatment Options in Cardiovascular
Medicine. 2 (5): 431–438. doi:10.1007/s11936-000-0038-6. ISSN 1092-8464. PMID 11096547
Gertz, Morie A.; Falk, Rodney H.; Skinner, Martha; Cohen, Alan S.; Kyle, Robert A. (1985-06-01). "Worsening of congestive
heart failure in amyloid heart disease treated by calcium channel-blocking agents". American Journal of Cardiology. 55 (13):
1645. doi:10.1016/0002-9149(85)90995-6. ISSN 0002-9149. PMID 4003314.

4 . ARRHYTHMOGENIC
CARDIOMYOPATHY (ACM)
ARCV is a disease with a genetic basis characterised by
the progressive replacement of the myocardium with
fibrofatty tissue that progressively starts from
epicardium to become transmural with the
development of multiple aneurysms
Pilichou, Kalliopi; Thiene, Gaetano; Bauce, Barbara; Rigato, Ilaria; Lazzarini, Elisabetta; Migliore, Federico; Perazzolo Marra, Martina; Rizzo,
Stefania; Zorzi, Alessandro; Daliento, Luciano; Corrado, Domenico; Basso, Cristina (2 April 2016). "Arrhythmogenic cardiomyopathy". Orphanet
Journal of Rare Diseases. 11 (1): 33. doi:10.1186/s13023-016-0407-1. PMC 4818879. PMID 27038780.

The localization is in the dysplasia triangle which includes;
apex, influx tract, and outflow tract of the right ventricle
but often also involves the left ventricle (up to 76% of
cases)
The disease is a type of non-ischemic cardiomyopathy that
primarily involves the right ventricle
Pilichou, Kalliopi; Thiene, Gaetano; Bauce, Barbara; Rigato, Ilaria; Lazzarini, Elisabetta; Migliore, Federico; Perazzolo Marra,
Martina; Rizzo, Stefania; Zorzi, Alessandro; Daliento, Luciano; Corrado, Domenico; Basso, Cristina (2 April 2016).
"Arrhythmogenic cardiomyopathy". Orphanet Journal of Rare Diseases. 11 (1): 33. doi:10.1186/s13023-016-0407-1.
PMC 4818879. PMID 27038780.

Causes of Arrhythogenic
cardiomyopathy
1. Mutations of desmosome genes; JUP, DSP, PKP2, DSG2,
DSC2
2. Other genes involved are those linked to the nuclear
envelope: LMNA and TMEM43
Klauke B, Kossmann S, Gaertner A, Brand K, Stork I, Brodehl A, Dieding M, Walhorn V, Anselmetti D, Gerdes
D, Bohms B, Schulz U, Zu Knyphausen E, Vorgerd M, Gummert J, Milting H (December 2010). "De novo
desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy". Human
Molecular Genetics. 19 (23): 4595–607. doi:10.1093/hmg/ddq387. PMID 20829228.

Clinical manifestations
Concealed phase:
There are no or subtle structural changes in the right ventricle
with or without minor ventricular arrhythmias
Sudden Cardiac death even at this stage may occur.
Second phase:
Arrhythmias in association with manifest functional and
structural abnormalities in the right ventricle
Arrhythmic symptoms such as; palpitations, syncope, or
cardiac arrest.

Third phase:
Right ventricular failure with a relatively preserved LV function
End stage:
Parallel significant left ventricular (LV) involvement with
systolic dysfunction
At this stage ACM can mimic DCM of other causes with its
related complications as AF and thromboembolic events.
Corrado, Domenico; Basso, Cristina; Judge, Daniel P. (2017-09-15). "Arrhythmogenic Cardiomyopathy". Circulation Research.
121 (7): 784–802. doi:10.1161/CIRCRESAHA.117.309345. ISSN 1524-4571. PMC 4818879. PMID 28912183.
Corrado, Domenico; Link, Mark S.; Calkins, Hugh (2017-01-05). "Arrhythmogenic Right Ventricular Cardiomyopathy". The
New England Journal of Medicine. 376 (1): 61–72. doi:10.1056/NEJMra1509267. ISSN 1533-4406. PMID 28052233.

Investigations
oECG
The most characteristic diagnostic element is the
presence of inverted T waves in the anterior leads,
with a prevalence ranging from 19% to 94%
Presence of right branch bundle block (RBBB)
Fragmented QRS,
And the finding of ventricular arrhythmias.

oEchocardiography, MRI and catheterization of the right
ventricle reveal global or segmental, kinetics and
structural changes.
oBiopsy: Reveals replacement of myocardial cells with
fibrous cell.
oFamily history: a confirmed arrhythmogenic right
ventricular cardiomyopathy (ARVC) in a first- degree
family member or a premature death in first degree
family member is very surgestive of ACM.
Marcus, Frank I. (2010). "Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia Proposed Modification
of the Task Force Criteria". Circulation. 121 (13): 1533–1541. doi:10.1161/CIRCULATIONAHA.108.840827. PMC 2860804.
PMID 20172911.

Management of AC
The goal is to prevent sudden cardiac death.
First step
Impose lifestyle change, patients with ACM should be
prohibited from competitive or endurance sport activity
Pharmacological approach involves use of Beta- blockers to
reduce adrenergic activity and therefore the risk of
developing arrhythmias
Pelliccia, A (2019). "Recommendations for participation in competitive and leisure time sport in athletes with
cardiomyopathies,myocarditis, and pericarditis: position statement of the Sport Cardiology Section of the European
Association of Preventive Cardiology (EAPC)". European Heart Journal. 40 (1): 19–33. doi:10.1093/eurheartj/ehy730.
PMID 30561613.

Other drugs used in patients with positive phenotype, are
amiodarone and Sotalol together with beta- blockers,
especially in patients with premature ventricular beats
or with non- sustained ventricular tachycardia (NSVT)
ICD Implantable cardioverter-defibrillator
are indicated in the following categories;
High risk category:
Patients with a history of cardiac arrest or sustained VT or
patients with severe dysfunction of RV, LV or both.
Fontaine G, Tonet J, Gallais Y, Lascault G, Hidden-Lucet F, Aouate P, Halimi F, Poulain F, Johnson N, Charfeddine H, Frank R
(November 2000). "Ventricular tachycardia catheter ablation in arrhythmogenic right ventricular dysplasia: a 16-year
experience". Current Cardiology Reports. 2 (6): 498–506. doi:10.1007/s11886-000-0034-1. PMID 11203287.
S2CID 31406061.

Intermediate risk category:
Patients with one or more risk factors and no
previous malignant arrhythmic events,
Primary prevention of sudden cardiac death (SCD)
e.g patients with a major risk factor such as
syncope, non sustained VT, or moderate ventricular
dysfunction.
Fontaine G, Tonet J, Gallais Y, Lascault G, Hidden-Lucet F, Aouate P, Halimi F, Poulain F, Johnson N, Charfeddine H, Frank R
(November 2000). "Ventricular tachycardia catheter ablation in arrhythmogenic right ventricular dysplasia: a 16-year
experience". Current Cardiology Reports. 2 (6): 498–506. doi:10.1007/s11886-000-0034-1. PMID 11203287.
S2CID 31406061.

5 . PERIPARTUM
CARDIOMYOPATHY (PPCM)
(PPCM) is a form of dilated cardiomyopathy that is defined
as a deterioration in cardiac function presenting typically
between the last month of pregnancy and up to six
months postpartum.
As with other forms of dilated cardiomyopathy, PPCM
involves systolic dysfunction of the heart with a decrease
of the left ventricular ejection fraction (EF) with associated
congestive heart failure and an increased risk of atrial and
ventricular arrhythmias, thromboembolism , and even
sudden cardiac death
Pearson GD, Veille JC, Rahimtoola S, et al. (March 2000). "Peripartum cardiomyopathy: National Heart, Lung, and Blood
Institute and Office of Rare Diseases (National Institutes of Health) workshop recommendations and review". JAMA. 283 (9):
1183–8. doi:10.1001/jama.283.9.1183

Possible risk factors:
1. Age > 30 years
2. African descent
3. Pregnancy with multiple fetus
4. Preeclapsia or
5. Cocaine abuse
6. Long term use (>4 weeks) of tocolytics (terbutaline).

Clinical features of PPCM
1. Dyspnea
2. Cough
3. Orthopnea
4. Noctornal dyspnea
5. Peripheral edema
6. Fatigue
Possible complications:
1. Arrhythmias
2. Thromboembolism

Investigations of PPCM
oBNP typically high
oChest X-ray: Enlargement of cardiac silhouette,
Pleural effusion may be present.
oEchocardiography: reduction in left ventricular
ejection fraction (45%) and frequent left ventricle
dilatation
Fett JD (March 2011). "Validation of a self-test for early diagnosis of heart failure in peripartum cardiomyopathy". Critical
Pathways in Cardiology. 10 (10): 44–45. doi:10.1097/HPC.0b013e31820b887b. PMID 21562375.

Management of PPCM
oMX guidelines are as for MX of HF
oAdequate oxygen
oPreload optimization
oInotropes administered if necessary
oAn ICD may be installed
oAnticoagulant therapy should be set up
oDecision to deliver is shared in a team of the
cardiologist, gynecologist, anesthest and a
neontologist

oA hemodynamically stable patient can undergo vaginal
delivery with epidural
oIn a woman with hemodynamic instability, an emergency
delivery is necessary
oIn women with advanced HF and use of inotropes, a
caesarian delivery should be planned.
Pearson GD, Veille JC, Rahimtoola S, et al. (March 2000). "Peripartum cardiomyopathy: National Heart, Lung, and Blood
Institute and Office of Rare Diseases (National Institutes of Health) workshop recommendations and review". JAMA. 283 (9):
1183–8. doi:10.1001/jama.283.9.1183. PMID 10703781.

6 . Takotsubo cardiomyopathy
(TCM)
Also called stress induced cardiomyopathy or broken heart
syndrome
Defined as an abrupt onset of left ventricular dysfunction in
response to severe emotional or physiologic stress.
Post menopausal women are most commonly affected.
Prevalence is estimated at 0.02% of hospitalized patients
It is reported that Takotsubo cardiomyopathy accounts for 1-
2% of admissions for acute coronary syndrome (ACS) and
often presents with angina

Investigations TCM
1. ECG- reveals Ischaemic changes
2. Cardiac enzymes:- elevated
3. Echocardiography reveals apical ballooning of the
left ventricle.

Management of Takotsubo
cardiomyopathy (TCM)
1. Treated as Acute coronary syndrome (ACS)
2. Acute complications such as shock, or HF, should
be managed appropriately.
3. Stable patients are treated with;
4. Diuretics
5. ACE- i or ARBs and Beta blockers
6. Anticoagulants are provided to patients with loss
of wall motion in the left ventricle apex

Prognosis of TCM
Symptoms and abnormalities typically reverse within
one month, and treatment may be withdrawn
acordingly

REFERENCES
1. Essential's of Kumar and Clark's clinical medicine.
Cardiomyopathies. Page 477- 480.
2. Tzong- Shyuan (2021). Cardiomyopathies.
Overview. International Journal of molecular
science 2021 July; 22(14): 7722. (Online).
Available at: www.ncbi.nih.gov. Accessed on
7/8/2022.
3. Davidson's medicine 22nd Edition. Page 637.
4. Mohammad Inam- short Textbook of medicine
Diagnosis And Treatment. Page 128- 130.

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