ESC Classification of Cardiomyopathies

Pericardial diseases & Cardiomyopathies

중앙의대 중앙대학교병원 순환기내과

이왕수

2018년 제2회 내과전공의 핵심역량 연수강좌

2018년 10월 25일-26일 서울 그랜드힐튼호텔

Cardiomyopathies

ESC Classification of Cardiomyopathies

Circ Res 2017 Sep. 15; 121(7).

Circ Res 2017 Sep. 15; 121(7).

AHA

Classification

of CMP

Prevalence of the Most Common Inherited Cardiac Conditions

Circ Res 2017 Sep. 15; 121(7).

Case 1

• 35세 남자가 운동 중 실신으로 왔다.

• 심계항진을 호소했고, 심첨부에서 범수축 기성 심잡음이 들렸다.

• 맥박은 150회/분, 혈압 130/80 mmHg이었 다.

Case 1: ECG

Case 1: EchoCG

Case 1: Q.1

• 진단은?

(1) 급성 심근경색 (2) 비후성 심근증 (3) 페동맥 색전증 (4) 불안정성 협심증 (5) 심외막염

Case 1: A.1 HCM

• 정답:

• The mainstay of the diagnosis of HCM is the echocardiogram, which demonstrates LV

hypertrophy, often with the septum 1.3 times

the thickness of the posterior LV free wall.

• The septum may demonstrate an unusual

"ground-glass" appearance, probably related to

•

SAM of the mitral valve, often accompanied by

mitral regurgitation, is found in patients with

Case 1: Q.2

• 이 환자에서 가장 적합한 초기 치료는?

(1) 디곡신 정주(IV)

(2) 고용량 furosemide 투여 (3) 니트로글리세린 정주(IV) (4) Amlodipine 투여

(5) Bisoprolol 투여

Case 1: A.2

• 정답:

• 비후성심근증에서 좌심실 유출로압 경사(LVOT gradient)에 영향을 미치는 약물에 대한 이해

* 베타차단제는 심박수 및 심근수축력 감소 작용으로 1 회 심박출(Stroke volume) 증가 및 심근 산소 요구량 을 감소 시킨다

* 디곡신은 심근수축력을 증가시켜서 좌심실유출로압 경사(LVOT gradient)증가

* 니트로글리세린과 이뇨제는 전부하(preload) 감소로 역시 gradient 증가

* Amlodipine은 말초혈관저항을 감소시켜 역시 gradient 증가시킴

ESC guideline 2014

Algorithm for the treatment of HF in

HCM

Case 1

Case 1: Q.3

• 이 질환의 임상 양상에 대한 설명 중 옳은 것은?

(1) 대부분 좌심실유출로 폐쇄성(LV obstructive HCM)형태 가 관찰된다.

(2) 유전적으로 주로 상염색체 열성(Autosomal recessive) 유전을 한다.

(3) Genetic mutation of sarcomeric protein encoding gene 과 관련된다.

(4) 주로 심장의 수축기 장애가 먼저 온다.

(5) 급사의 위험이 높아서 진단이 되면 primary prevention 목적으로 ICD implantation이 필수이다.

LV morphology in HCM

Selected genetic defects associated with CMP

Harrison 19^th Edition

Major clinical features associated with an increased risk of SCD in adults HCM

ESC guideline 2014

Flow chart for ICD implantation

in HCM

ESC guideline 2014

Noninvasive and invasive images from a patient with HCM

Circ Res 2017 Sep. 15; 121(7).

Assessment of LV Outflow Gradient AV Stenosis vs. HCM

JACC CV interv 2012

AS HCM

Medical Tx for LVOTO

ESC guideline 2014

Septal reduction therapy

ESC guideline 2014

• Septal myectomy

• Septal alcohol ablation

Septal myectomy performed

through a low oblique aortotomy extending into the noncoronary sinus

Circ Res 2017 Sep. 15; 121(7).

Intraoperative LV and aortic pressures taken before and after septal myectomy

Circ Res 2017 Sep. 15; 121(7).

Sequence of echo-guided alcohol septal ablation

Circ Res 2017 Sep. 15; 121(7).

Case 2

• 25세 남자가 의식을 잃고 쓰러져서 응급실 로 실려왔다.

• 심폐소생술을 시행했다.

• 가족력 상 동생이 운동 중에 급사한 병력 이 있었다.

Case 2: ECG

Case 2: EchoCG

Case 2: Cardiac MRI

Case 2: Q.1

• 진단은?

(1) 심실빈맥

(2) 급성 심근경색 (3) 비후성 심근증

(4) 우심실 이형성 증후군

(5) 브루가다(Brugada) 증후군

Case 2: A.1 ARVD/ARVC

• 정답:

• ARVD can affect either or both ventricles.

• Patients often present first with VT.

•

Genetic defects in proteins of the desmosomal complex disrupt

myocardium by deposits of fat.

•

Thin ventricular walls may be recognized on echocardiography

• Because desmosomes are also important for elasticity of hair and skin, some of the defective desmosomal proteins are associated with striking “woolly hair” and thickened skin on the palms and

soles.

•

ICDs are usually indicated to prevent sudden death.

• There is variable progression to right, left, or biventricular failure.

ARVC/ARVD

Circ Res 2017 Sep. 15; 121(7).

Imaging features of

arrhythmogenic cardiomyopathy

Circ Res 2017 Sep. 15; 121(7).

Naxos Disease:

a special form of ARVD

Indian Heart J 2012; OJRD 2018

Genes in which mutations are reported to cause ARVC

Circ Res 2017 Sep. 15; 121(7).

Pyramid of risk and indications for ICD therapy in ARVC

Circ Res 2017 Sep. 15; 121(7).

Case 3

• 55세 여성이 ‘숨이 차다’고 호소하면서 방 문하였다.

• BP 95/60 mmHg. Heart rate 65 BPM.

Respiratory rate 22.

Case 3: Lab

• BUN/creatinine 25/1.0 mg/dl

• WBC 5.6, hemoglobin 10.8 gm/L

• LFTs normal

• troponin-I 0.22 ng/ml (normal < 0.04 ng/ml)

•

BNP 460 pg/ml (normal < 100 pg/ml)

Case 3: ECG

Case 3: EchoCG

Case 3: Q.1

• 이 환자에게 다음으로 시행할 검사는?

(1) Exercise treadmill

(2) Exercise perfusion imaging (3) Cardiac CTA

(4) Cardiac MRI

(5) Right and left coronary angiography

Case 3: A.1 Cardiac amyloidosis

• 정답:

• In addition to cardiac infiltration, neurologic involvement

occurs commonly with primary amyloidosis (immunoglobulin light chains) and with familial amyloidosis (genetic abnormalities of

transthyretin).

• There are over 100 identified mutations in transthyretin on

chromosome 13.

• Cardiac amyloid is classically suspected from thickened

ventricular walls with an ECG that shows low voltage. However,

familial or senile amyloidosis than in primary AL amyloidosis.

Cardiac amyloidosis

• A characteristic refractile brightness in the septum on

echocardiography is suggestive of the diagnosis, but neither

sensitive nor specific. Both atria are dilated, often dramatically, and diastolic dysfunction may be more obvious than in left ventricular hypertrophy from other causes.

• Amyloid infiltration can also be detected with gadolinium enhancement in MRI.

• The diagnosis of primary or familial amyloidosis can sometimes be made from biopsies of an abdominal fat pad or the rectum, but cardiac amyloidosis is most reliably identified from a biopsy of the heart.

• Diagnosis of the type of amyloid protein requires

immunohistochemistry of biopsied tissue rather than serum or urine electrophoresis, which can lead to incorrect classification.

Secondary restrictive cardiomyopathy caused by cardiac amyloidosis

Circ Res 2017 Sep. 15; 121(7).

B, Congo Red histochemical staining reveals amyloid interstitial deposits.

C, The same as (B) at polarized light, revealing green apple-colored deposits.

EchoCG: Cardiac amyloidosis

Note the symmetrical, moderately thickened left ventricle walls with thickened mitral valve leaflets (arrows).

Note the myocardium is echogenic, which will be bright.

Circ Res 2017 Sep. 15; 121(7).

Cardiac MRI of patient with cardiac amyloidosis.

Circ Res 2017 Sep. 15; 121(7).

A, Early gadolinium phase. Note the thickened heart walls.

B, Diffuse late gadolinium enhancement of the myocardium. Delayed post-

gadolinium enhancement images reveal the characteristic diffuse subendocardial enhancement differentiating cardiac amyloidosis from other cardiomyopathies.

Nuclear imaging in cardiac amyloidosis

Circ Res 2017 Sep. 15; 121(7).

A, A planar whole-body image using 99mTc-labeled pyrophosphate (99mTc-PYP), demonstrating grade 3 cardiac uptake, characteristic of transthyretin cardiac

amyloidosis.

B, Single-photon emission computed tomography (SPECT) image showing increased uptake in the heart. The uptake here is equivalent to that seen in bone.

ESC 2018; NEJM 2018

Transthyretin (TTR) amyloidogenesis and TTR stabilization by tafamidis

Neurol Ther 2016

co-crystal structure of tafamidis bound to a TTR tetramer TTR

Tafamidis (빈다켈)

ESC 2018; NEJM 2018

Secondary Endpoints

NEJM 2018

Tafamidis Treatment for Patients with Transthyretin Amyloid Cardiomyopathy

• Conclusion:

– In patients with transthyretin amyloid cardiomyopathy, tafamidis

• was associated with reductions in all-

cause mortality and cardiovascular- related hospitalizations

•

reduced the decline in functional

capacity and quality of life as compared

NEJM 2018

Pericardial Diseases

Anatomy of normal pericardium

Functions of the pericardium

Pericardial

effusion

Clinical presentation

• The clinical presentation of pericardial effusion varies

according to the speed of pericardial fluid

accumulation.

• dyspnoea on exertion progressing to orthopnoea

• chest pain and/or fullness

• nausea (diaphragm)

• dysphagia (oesophagus)

• hoarseness (recurrent laryngeal nerve)

• hiccups (phrenic nerve)

Assessing hemodynamic impact

• volume of pericardial fluid

• the rate at which the effusion accumulates

• whether or not the pericardium is scarred or adherent

• Cardiac tamponade

• Tamponade physiology

Etiology of Pericardial disease

Dx of Pericardial effusion

2015 ESC guideline

Amount of pericardial effusion

Klein et al. 2015 ASE guideline

DDx: Pericardial vs. Pleural

Effusion

Algorithm for pericardial effusion triage and management

2015 ESC guideline

Case 4

• 30세 남자가 사지 부종, 복수 및 식욕부진 증상으로 방문하였다.

• 신체검사 상 몸이 많이 말랐으나 팽배된 복부와 하지의 함몰부종이 관찰되었다.

• 경정맥이 확장되어 있었으며 흡기시 경정 맥의 압력 감소가 보이지 않았다.

Case 4: Chest X-ray

Case 4: EchoCG

Case 4: Chest CT

Case 4: Cardiac Cath.

Case 4: Q.1

• 진단은?

(1) 폐동맥 색전증 (2) 비후성 심근병증 (3) 심방중격 결손증 (4) 교착성 심장막염 (5) 급성 심근경색증

Case 4. A.1 Constrictive pericarditis

• 정답:

• A relatively uncommon form of clinical heart failure.

• The true population prevalence is unknown, but amongst those with viral pericarditis it has been estimated to occur in less than 0.5% of cases.

• However, because it is potentially reversible, the diagnosis must not be missed.

•

Surgical pericardiectomy has the ability to "cure" CP, with

• Although the etiology of CP can be varied (idiopathic, post viral, tuberculous, post-surgical, radiation-induced, etc.), the final

common pathway is development of fibrous thickening or

calcification of the pericardium resulting in pericardial non-

Multimodality diagnostic approach of CP

JACC 2017

Paradoxical JVP

• Normally the JVP should rise on expiration and fall on inspiration.

•

Kussmaul's sign

– an

increase

during inspiration

– most often caused by severe right-sided heart failure

– a frequent finding in patients with

constrictive

pericarditis or right ventricular infarction.

JVP: CP vs. Pericardial Tamponade

"a" = atrial contraction

"c" = ventricular contraction and resulting bulging of tricuspid into the right atrium during isovolumetric systole

"v" = venous filling

"x" = the atrium relaxes and the tricuspid valve moves downward

"y" = filling of ventricle after tricuspid opening

Pericarditis ECG

Stage II: ST segment elevation and PR depression have resolved and T waves may be normal or flattened.

Stage III: T waves are inverted, and the ECG is otherwise normal.

Stage IV: T waves return to the upright position, and thus the ECG is back to normal.

Stage I (acute phase): Diffuse concave upward ST segment elevation in most leads, PR depression in most leads (may be subtle) and sometimes notching at the end of the QRS complex.

Cardiac Cath.: CP vs. RCM (1)

Cardiac Cath.: CP vs. RCM (2)

Recommendations for Dx & Tx of constrictive pericarditis

EHJ 2015

Case 5

• 3년 전에 유방암을 진단 받고 항암치료를 받았던 50세 여자 환자가 최근 일주일 전 부터 심해지는 호흡곤란으로 내원했다.

• 환자는 경정맥의 확장, 얼굴 및 사지 부종, 청진상 심음의 감소 등이 관찰되었다.

• 내원 시 혈압은 70/40 mmHg, 맥박수는 120회/분 이었다.

Case 5: Chest X-ray & EchoCG

Case 5: EchoCG

Case 5: Q.1

• 진단은?

(1) 급성 심근경색 (2) 심낭압전

(3) 폐동맥 색전증 (4) 폐부종

(5) 감염성 심내막염

Case 5: A.1 Cardiac tamponade

EHJ 2015

Dx of Cardiac Tamponade (1)

Arterial Pressure Pulse

• Normal arterial pulse

– the decrease in systolic arterial pressure that normally accompanies the reduction in arterial

pulse amplitude during inspiration is accentuated.

•

Pulsus paradoxus

– patients with

pericardial tamponade

– the decrease in systolic arterial pressure frequently

exceeds the normal decrease of 10 mmHg and

the peripheral pulse may disappear completely

during inspiration.

Paradoxical Pulse

Sensitivity 98%, Specificity 83% for cardiac tamponade

Cardiac Tamponade in medical patients. Circulation 1981;64:633.

Cardiac Tamponade

J Emerg Med 1988.

Cardiac Tamponade:

Pulsus Paradoxus

Dx of Cardiac Tamponade (2)

Dx of Cardiac Tamponade (3)

EchoCG

EchoCG Findings of

Cardiac Tamponade: Doppler (1)

Klein et al. 2015 ASE guideline

Echocardiographic pulsus paradoxus

EchoCG Findings of

Cardiac Tamponade: Doppler (2)

Klein et al. 2015 ASE guideline

EchoCG Findings of Cardiac

Tamponade: Swinging Heart

Case 5-2

• 56세 여자가 3일 전에 관상동맥우회수술 을 받고 쇼크에 빠졌다.

Case 5-2

Case 5-2: Q.1

• 즉시 실시해야 할 조치는?

(1) 심외막 천자 (2) 혈전용해요법

(3) 관상동맥 조영술

(4) 니트로글리세린 정주

(5) 임시형 인공심박동기 삽입

Tx of Pericardial Tamponade

Therapeutic pericardiocentesis

Surgical drainage

Summary (1)

• Pericardial diseases

– Constrictive pericarditis – Pericardial tamponade – Others: acute pericarditis

Summary (2)

• Cardiomyopathies

– HCM

– ARVC/ARVD

– RCM: cardiac amyloidosis (tafamidis)

– Others: DCM, Fabry Dz, sarcoidosis, LVNC, stress-induced CMP, peripartum CMP

Thank you for attention!

중앙대학교병원 중앙대학교 광명병원 (2021)

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