31yo, G0P000, is being evaluated in your clinic for infertility. She and her partner have been trying for 3 years to conceive and have not been successful. She report her partner has already had a semen analysis performed and was within normal limits. She reports a regular menstrual cycle, with little to no variability, and normal flow. She has not been on any form of contraception for 3 years. The rest of her past medical history and family history is benign.
What are types of studies that can be used in her infertility work-up?
Other Known Aliases – ligamenta suspensoria mammaria
Definition – connective tissue of the breast that helps maintain structural integrity
Clinical Significance – these ligaments run from the clavicle and clavipectoral fascia to the dermis of the skin under the breast and their main clinical function is to support the breast and contribute to the shape and contour of the breast.
History – Named after Sir Astley Paston Cooper (1768-1841), who was an English surgeon and anatomist and trained under Henry Cline and John Hunter before being appointed demonstrator of anatomy in 1789. This was the start to a well-renowned career as professor of anatomy and surgery throughout England culminating in receiving baronetcy in 1820 and becoming sergeant surgeon to George IV in 1828. He made tremendous contributions to the early advancement in surgery including his seminal work on hernias and surgical techniques in the management of vascular aneurysms. He first described his eponymous findings in his text “On the Anatomy of the Breast” in 1840.
References
Firkin BG and Whitwirth JA. Dictionary of Medical Eponyms. 2nd ed. New York, NY; Parthenon Publishing Group. 1996.
Bartolucci S, Forbis P. Stedman’s Medical Eponyms. 2nd ed. Baltimore, MD; LWW. 2005.
Yee AJ, Pfiffner P. (2012). Medical Eponyms (Version 1.4.2) [Mobile Application Software]. Retrieved http://itunes.apple.com.
A 38yo G2P0202 Caucasian woman, with a BMI of 32, presents to your office for evaluation of a “spot” on her breast that she is concerned about. She explains that her great aunt was diagnosed with breast cancer last year at the age of 62 and she is worried. She has not noticed it before, but upon further inquiry states she does not perform self-breast exams very often. She is not currently using any form of contraception (husband has had a vasectomy), but reports using oral contraception pills from age 17-28. She describes her cycle history as regular for her occurring every 28-30 days, lasting 4-5 days with moderate bleeding. She denies any history of abnormal Pap results or any other cancer.
Past Medical History – Hypertension, Anxiety
Medications – Lisinopril 10mg, Escitalopram 10mg
OBGYN History – Menarche at 13, 1st child at 29, 2nd child at 31, breastfed both children for 6 months
Social History – Never smoker, social alcohol
What parts of her history are significant?
What do you specifically want to assess for on your physical examination?
What findings would be considered benign and what would be considered concerning?
Answer
The significant parts of her history are the use of estrogen-containing OCPs alcohol use, and age at time of first child as these have been associated with increased risk of breast cancer. Breastfeeding is actually protective against breast cancer. Her aunt (2nd degree relative) being diagnosed with breast cancer at 62, would only be significant if she was a 1st degree relative under 60 years of age.
Physical examination should include:
Inspection – asymmetry, skin changes, and nipple abnormalities
Palpation – in a systematic approach with careful attention to the axillary lymph nodes and tail of the breast tissue
Benign masses generally do not skin changes, are smooth, soft to firm, and mobile with well-defined margins. Malignant masses are generally hard, immobile, and fixed to the surrounding skin with poorly-defined margins.
Definition – triangular, tongue-shaped portion of breast tissue that extends superiorly and laterally toward the axilla, perforating the deep axillary fascia where it terminating in close proximity to the axillary lymph nodes.
Clinical Significance – Due to location of this breast tissue, many women may not exam this portion of the breast during self-exams. Therefore, given its close proximity to the axillary lymph nodes, providers need to pay close attention to this anatomic region.
Tail of Spence occupies the space where the #3 and #4 nodal regions are
History – Named after James Spence (1812-1882), who was a Scottish surgeon and received his medical doctorate from the Royal College of Surgeons of Edinburgh in 1832. He went on to have a prolific career in teaching anatomy in the classroom and in the dissecting hall at various schools and universities, culminating in serving as chair of systematic surgery and Professor of Surgical Science at Edinburgh University in 1864. Clinically, he served as full house surgeon at the Edinburgh Royal Infirmary for many years leading up to his appointment as Surgeon in Ordinary to Queen Victoria in Scotland in 1865. He was elected as a Fellow of the Royal Society of Edinburgh in 1866 and served as president of the Royal College of Surgeons of Edinburgh from 1867-1869.
References
Firkin BG and Whitwirth JA. Dictionary of Medical Eponyms. 2nd ed. New York, NY; Parthenon Publishing Group. 1996.
Bartolucci S, Forbis P. Stedman’s Medical Eponyms. 2nd ed. Baltimore, MD; LWW. 2005.
Yee AJ, Pfiffner P. (2012). Medical Eponyms (Version 1.4.2) [Mobile Application Software]. Retrieved http://itunes.apple.com.
A 38yo G2P0202 Caucasian woman, with a BMI of 32, presents to your office for evaluation of a “spot” on her breast that she is concerned about. She explains that her great aunt was diagnosed with breast cancer last year at the age of 62 and she is worried. She has not noticed it before, but upon further inquiry states she does not perform self-breast exams very often. She is not currently using any form of contraception (husband has had a vasectomy), but reports using oral contraception pills from age 17-28. She describes her cycle history as regular for her occurring every 28-30 days, lasting 4-5 days with moderate bleeding. She denies any history of abnormal Pap results or any other cancer.
Past Medical History – Hypertension, Anxiety
Medications – Lisinopril 10mg, Escitalopram 10mg
OBGYN History – Menarche at 13, 1st child at 29, 2nd child at 31
Social History – Never smoker, social alcohol
What parts of her history are significant?
What do you specifically want to assess for on your physical examination?
What findings would be considered benign and what would be considered concerning?
Definition – non-tender, small erythematous or hemorrhagic lesions on the palms of the hands or soles of the feet.
Clinical Significance – these lesions are one of the classic, pathognomonic findings in infectious endocarditis. They are caused by septic emboli which deposit bacteria in the dermis of the skin causing microabscesses. In fact, cultures can be taken from these lesions.
History – Named after Edward G. Janeway (1841-1911), who was an American pathologist and received his medical doctorate from the College of Physicians and Surgeons in New York in 1864. He had a prolific career practicing in and around New York city primarily at Bellevue Hospital and served as Health Commissioner of New York from 1875-1882. He went on to become one of the founders of the Association of American Physicians in 1886, as well as president of the Academy of Medicine in 1897 and 1898. A contemporary of Sir William Osler, Janeway was regarded as one of America’s premier internists of the late nineteeth and early twentieth century. He first noted his eponymous finding in 1899 as a “peculiar skin lesion”, but the eponym was first coined by Emanuel Libman in 1906 and later explained in a footnote in an article in 1923.
References
Firkin BG and Whitwirth JA. Dictionary of Medical Eponyms. 2nd ed. New York, NY; Parthenon Publishing Group. 1996.
Bartolucci S, Forbis P. Stedman’s Medical Eponyms. 2nd ed. Baltimore, MD; LWW. 2005.
Yee AJ, Pfiffner P. (2012). Medical Eponyms (Version 1.4.2) [Mobile Application Software]. Retrieved http://itunes.apple.com.
1980 – WHO characterized cardiomyopathies as “heart muscle diseases of unknown causes”
Distinguish between non-cardiovascular pathologies (HTN, coronary disease, valvular disease)
1995 – WHO and International Society and Federation of Cardiology (ISFC) developed a task force specifically looking at the definition and classifications of cardiomyopathies
Definition they developed was “disease of the myocardium associated with cardiac dysfunction”
Dilated cardiomyopathy (DCM)
Hypertrophic cardiomyopathy (HCM)
Restrictive cardiomyopathy (FCM)
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Unclassified cardiomyopathy
2006 – AHA released a statement to update to a more contemporary definition with two major categories
Primary cardiomyopathies (predominantly involving the heart)
Secondary cardiomyopathies (other system involvement)
2008 – European Society of Cardiology (ESC) updated the WHO/IFSC classification of cardiomyopathies as
“a disorder in which the heart muscle is structurally and functionally abnormal in the absence of coronary artery disease, HTN, valvular disease, and congenital heart disease”
Meant to more clinically useful
Further subcategorized into familial and non-familial causes, as well as removing CAD, vavlvular, congenital heart disease, and ion channelopathies as causes
Echographic Evaluation
Systolic
Decrease in myocardial contractility resulting in a decrease in left ventricular ejection fraction
To compensate, cardiac output is maintained by LV enlargement (increase stroke volume)
As a result, systolic dysfunction is most commonly characterized by a dilated cardiomyopathy
Diastolic
Dysfunction in LV relaxation resulting in abnormal filling and elevated filling pressures
Mostly affected by compliance and distensibility of the myocardium
As a result, diastolic dysfunction is most commonly characterized by restrictive cardiomyopathy
Current Classifications
Dilated
Definition
Dilation and impaired contraction of one or both ventricles resulting in an increase in total cardiac mass
Numbers
Incidence – 5-8 cases per 100,000 population
Prevalence – 36 per 100,000
STRONG HEART Study (20021) – Up to 14% of middle-aged and elderly may have asymptomatic LV dysfunction
Causes
Signs and Symptoms
Progressive dyspnea on exertion
Impaired exercise capacity
Orthopnea
Paroxysmal nocturnal dyspnea
Peripheral edema
Cardiomegaly
Radiographic
> 50% cardiothoracic ratio
Clinical
Displaced PMI
S3 with gallop
Classic Echocardiographic Findings
Left ventricular cavitary spherical dilation
Normal to decreased wall thickness
Reduced inward systolic motion
Left > Right atrial enlargement and dysfunction
Hypertrophic
Definition
Increased Left > Right ventricular wall thickness in the absence of pathologic causing conditions
Numbers
Prevalence – 1:500 of the adult population
Causes
Primarily genetic
Autosomal dominant with incomplete penetrance
60-70% of patients have mutations in the beta myosin heavy chain and cardiac myosin-binding protein C genes
Signs and Symptoms
Atypical angina (25-30%)
Presyncope and syncope during or immediately after exertion (15-20%)
More common in patients < 30yo
Palpitations
Dyspnea on exertion
Fatigue
Clinical
LVOT obstruction
S4
Harsh crescendo-decrescendo systolic murmur after S1 best heard at apex and lower left sternal border
Accentuated by squatting and standing quickly
Diminished by standing and squatting quickly or with handgrip
Mitral regurgitation murmur
Classic Echocardiographic Findings
LV wall thickness > 15mm
LV outflow obstruction > 30mmHg
Asymmetric septal hypertrophy
Systolic anterior motion of the mitral valve (SAM)
Restrictive
Definition
Non-dilated, nonhypertrophied ventricles with moderate to marked biatrial enlargement
Numbers
~5% of all cases of cardiomyopathies
Causes
Infiltrative
Amyloidosis, sarcoidosis
Non-infiltrative
Diabetic, scleroderma
Storage Disease
Hemochromatosis, Fabry, Gaucher
Endomyocardial
Cancer/Cancer therapy, pharmacologic
Signs and Symptoms
Dyspnea
Peripheral edema
Palpitations
Fatigue
Weakness
Exercise intolerance
Clinical
Elevated JVP with a prominent y descent
S3
Hepatosplenomegaly and ascites
Classic Echocardiographic Findings
Difficult and often requires doppler interrogation
Elevated peak mitral inflow velocity
Rapid early mitral inflow deceleration
Reduced annular velocity
Normal to low diastolic volume
Normal to low reduced LVEF
Atrial enlargement
The Cottage Physician (1893)
References
Report of the WHO/ISFC task force on the definition and classification of cardiomyopathies. British heart journal. 1980; 44(6):672-3. [pubmed]
Richardson P, McKenna W, Bristow M, et al. Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies. Circulation. 1996; 93(5):841-2. [pubmed]
Maron BJ, Towbin JA, Thiene G, et al. Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention. Circulation. 2006; 113(14):1807-16. [pubmed]
Elliott P, Andersson B, Arbustini E, et al. Classification of the cardiomyopathies: a position statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases. European heart journal. 2008; 29(2):270-6. [pubmed]
Dec GW, Fuster V. Idiopathic dilated cardiomyopathy. The New England journal of medicine. 1994; 331(23):1564-75. [pubmed]
Devereux RB, Roman MJ, Paranicas M, et al. A population-based assessment of left ventricular systolic dysfunction in middle-aged and older adults: the Strong Heart Study. American heart journal. 2001; 141(3):439-46. [pubmed]
Felker GM, Thompson RE, Hare JM, et al. Underlying causes and long-term survival in patients with initially unexplained cardiomyopathy. The New England journal of medicine. 2000; 342(15):1077-84. [pubmed]
Maron BJ, Gardin JM, Flack JM, Gidding SS, Kurosaki TT, Bild DE. Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary Artery Risk Development in (Young) Adults. Circulation. 1995; 92(4):785-9. [pubmed]
Maron BJ. Clinical Course and Management of Hypertrophic Cardiomyopathy. The New England journal of medicine. 2018; 379(7):655-668. [pubmed]
Richard P, Charron P, Carrier L, et al. Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation. 2003; 107(17):2227-32. [pubmed]
Nienaber CA, Hiller S, Spielmann RP, Geiger M, Kuck KH. Syncope in hypertrophic cardiomyopathy: multivariate analysis of prognostic determinants. Journal of the American College of Cardiology. 1990; 15(5):948-55. [pubmed]
Muchtar E, Blauwet LA, Gertz MA. Restrictive Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy. Circulation research. 2017; 121(7):819-837. [pubmed]
Ammash NM, Seward JB, Bailey KR, Edwards WD, Tajik AJ. Clinical profile and outcome of idiopathic restrictive cardiomyopathy. Circulation. 2000; 101(21):2490-6. [pubmed]
Kushwaha SS, Fallon JT, Fuster V. Restrictive cardiomyopathy. The New England journal of medicine. 1997; 336(4):267-76. [pubmed]
